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.47332496G>T | CA2613356105 | MYBPC3 | c.3627+70C>A (n.3627+70C>A) c.3609+70C>A (n.3609+70C>A) c.3546+70C>A (n.3546+70C>A) | gnomAD v4 |
11 | g.47332497A>G | CA2613356106 | MYBPC3 | c.3627+69T>C (n.3627+69T>C) c.3609+69T>C (n.3609+69T>C) c.3546+69T>C (n.3546+69T>C) | gnomAD v4 |
11 | g.47332498C= | CA1969333912 | MYBPC3 | c.3627+68G= (n.3627+68G=) c.3609+68G= (n.3609+68G=) c.3546+68G= (n.3546+68G=) | |
11 | g.47332498C>T | CA1969333913 | MYBPC3 | c.3627+68G>A (n.3627+68G>A) c.3609+68G>A (n.3609+68G>A) c.3546+68G>A (n.3546+68G>A) | dbSNP gnomAD v4 |
11 | g.47332499T>A | CA2839535310 | MYBPC3 | c.3627+67A>T (n.3627+67A>T) c.3609+67A>T (n.3609+67A>T) c.3546+67A>T (n.3546+67A>T) | |
11 | g.47332500G>A | CA2574815717 | MYBPC3 | c.3627+66C>T (n.3627+66C>T) c.3609+66C>T (n.3609+66C>T) c.3546+66C>T (n.3546+66C>T) | |
11 | g.47332500G>C | CA1969333916 | MYBPC3 | c.3627+66C>G (n.3627+66C>G) c.3609+66C>G (n.3609+66C>G) c.3546+66C>G (n.3546+66C>G) | dbSNP gnomAD v4 |
11 | g.47332500G= | CA1969333914 | MYBPC3 | c.3627+66C= (n.3627+66C=) c.3609+66C= (n.3609+66C=) c.3546+66C= (n.3546+66C=) | |
11 | g.47332500G>T | CA2613356107 | MYBPC3 | c.3627+66C>A (n.3627+66C>A) c.3609+66C>A (n.3609+66C>A) c.3546+66C>A (n.3546+66C>A) | gnomAD v4 |
11 | g.47332501C>A | CA2613356108 | MYBPC3 | c.3627+65G>T (n.3627+65G>T) c.3609+65G>T (n.3609+65G>T) c.3546+65G>T (n.3546+65G>T) | gnomAD v4 |
11 | g.47332501C>T | CA2841271671 | MYBPC3 | c.3627+65G>A (n.3627+65G>A) c.3609+65G>A (n.3609+65G>A) c.3546+65G>A (n.3546+65G>A) | |
11 | g.47332503C>A | CA2613356109 | MYBPC3 | c.3627+63G>T (n.3627+63G>T) c.3609+63G>T (n.3609+63G>T) c.3546+63G>T (n.3546+63G>T) | gnomAD v4 |
11 | g.47332503C= | CA1969333917 | MYBPC3 | c.3627+63G= (n.3627+63G=) c.3609+63G= (n.3609+63G=) c.3546+63G= (n.3546+63G=) | |
11 | g.47332503C>G | CA2574815718 | MYBPC3 | c.3627+63G>C (n.3627+63G>C) c.3609+63G>C (n.3609+63G>C) c.3546+63G>C (n.3546+63G>C) | gnomAD v4 |
11 | g.47332503C>T | CA677013624 | MYBPC3 | c.3627+63G>A (n.3627+63G>A) c.3609+63G>A (n.3609+63G>A) c.3546+63G>A (n.3546+63G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332504A>G | CA2613356110 | MYBPC3 | c.3627+62T>C (n.3627+62T>C) c.3609+62T>C (n.3609+62T>C) c.3546+62T>C (n.3546+62T>C) | dbSNP gnomAD v4 |
11 | g.47332506C= | CA1969333921 | MYBPC3 | c.3627+60G= (n.3627+60G=) c.3609+60G= (n.3609+60G=) c.3546+60G= (n.3546+60G=) | |
11 | g.47332506C>G | CA677013628 | MYBPC3 | c.3627+60G>C (n.3627+60G>C) c.3609+60G>C (n.3609+60G>C) c.3546+60G>C (n.3546+60G>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332506C>T | CA221681975 | MYBPC3 | c.3627+60G>A (n.3627+60G>A) c.3609+60G>A (n.3609+60G>A) c.3546+60G>A (n.3546+60G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332507_47332515del | CA2613356111 | MYBPC3 | c.3627+52_3627+60del (n.3627+52_3627+60del) c.3609+52_3609+60del (n.3609+52_3609+60del) c.3546+52_3546+60del (n.3546+52_3546+60del) | gnomAD v4 |
11 | g.47332507G>A | CA221681979 | MYBPC3 | c.3627+59C>T (n.3627+59C>T) c.3609+59C>T (n.3609+59C>T) c.3546+59C>T (n.3546+59C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332507G>C | CA937665489 | MYBPC3 | c.3627+59C>G (n.3627+59C>G) c.3609+59C>G (n.3609+59C>G) c.3546+59C>G (n.3546+59C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332507G= | CA1969333923 | MYBPC3 | c.3627+59C= (n.3627+59C=) c.3609+59C= (n.3609+59C=) c.3546+59C= (n.3546+59C=) | |
11 | g.47332507G>T | CA2613356112 | MYBPC3 | c.3627+59C>A (n.3627+59C>A) c.3609+59C>A (n.3609+59C>A) c.3546+59C>A (n.3546+59C>A) | gnomAD v4 |
11 | g.47332508T>C | CA937665492 | MYBPC3 | c.3627+58A>G (n.3627+58A>G) c.3609+58A>G (n.3609+58A>G) c.3546+58A>G (n.3546+58A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332508T= | CA1969333927 | MYBPC3 | c.3627+58A= (n.3627+58A=) c.3609+58A= (n.3609+58A=) c.3546+58A= (n.3546+58A=) | |
11 | g.47332509C>A | CA2613356113 | MYBPC3 | c.3627+57G>T (n.3627+57G>T) c.3609+57G>T (n.3609+57G>T) c.3546+57G>T (n.3546+57G>T) | gnomAD v4 |
11 | g.47332509C= | CA1969333929 | MYBPC3 | c.3627+57G= (n.3627+57G=) c.3609+57G= (n.3609+57G=) c.3546+57G= (n.3546+57G=) | |
11 | g.47332509C>T | CA677013631 | MYBPC3 | c.3627+57G>A (n.3627+57G>A) c.3609+57G>A (n.3609+57G>A) c.3546+57G>A (n.3546+57G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332510G>A | CA221681982 | MYBPC3 | c.3627+56C>T (n.3627+56C>T) c.3609+56C>T (n.3609+56C>T) c.3546+56C>T (n.3546+56C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332510G= | CA1969333932 | MYBPC3 | c.3627+56C= (n.3627+56C=) c.3609+56C= (n.3609+56C=) c.3546+56C= (n.3546+56C=) | |
11 | g.47332510G>T | CA2613356115 | MYBPC3 | c.3627+56C>A (n.3627+56C>A) c.3609+56C>A (n.3609+56C>A) c.3546+56C>A (n.3546+56C>A) | gnomAD v4 |
11 | g.47332513del | CA2613356114 | MYBPC3 | c.3627+56del (n.3627+56del) c.3609+56del (n.3609+56del) c.3546+56del (n.3546+56del) | gnomAD v4 |
11 | g.47332512G>A | CA2841271672 | MYBPC3 | c.3627+54C>T (n.3627+54C>T) c.3609+54C>T (n.3609+54C>T) c.3546+54C>T (n.3546+54C>T) | |
11 | g.47332512G>T | CA2613356116 | MYBPC3 | c.3627+54C>A (n.3627+54C>A) c.3609+54C>A (n.3609+54C>A) c.3546+54C>A (n.3546+54C>A) | gnomAD v4 |
11 | g.47332513G>A | CA1969333934 | MYBPC3 | c.3627+53C>T (n.3627+53C>T) c.3609+53C>T (n.3609+53C>T) c.3546+53C>T (n.3546+53C>T) | dbSNP |
11 | g.47332513G= | CA1969333933 | MYBPC3 | c.3627+53C= (n.3627+53C=) c.3609+53C= (n.3609+53C=) c.3546+53C= (n.3546+53C=) | |
11 | g.47332513G>T | CA2613356117 | MYBPC3 | c.3627+53C>A (n.3627+53C>A) c.3609+53C>A (n.3609+53C>A) c.3546+53C>A (n.3546+53C>A) | gnomAD v4 |
11 | g.47332514C>A | CA2613356118 | MYBPC3 | c.3627+52G>T (n.3627+52G>T) c.3609+52G>T (n.3609+52G>T) c.3546+52G>T (n.3546+52G>T) | gnomAD v4 |
11 | g.47332514C= | CA1969333935 | MYBPC3 | c.3627+52G= (n.3627+52G=) c.3609+52G= (n.3609+52G=) c.3546+52G= (n.3546+52G=) | |
11 | g.47332514C>T | CA221681984 | MYBPC3 | c.3627+52G>A (n.3627+52G>A) c.3609+52G>A (n.3609+52G>A) c.3546+52G>A (n.3546+52G>A) | dbSNP gnomAD v4 |
11 | g.47332515C>A | CA2613356119 | MYBPC3 | c.3627+51G>T (n.3627+51G>T) c.3609+51G>T (n.3609+51G>T) c.3546+51G>T (n.3546+51G>T) | gnomAD v4 |
11 | g.47332516T>C | CA2613356120 | MYBPC3 | c.3627+50A>G (n.3627+50A>G) c.3609+50A>G (n.3609+50A>G) c.3546+50A>G (n.3546+50A>G) | gnomAD v4 |
11 | g.47332517G>A | CA079462 | MYBPC3 | c.3627+49C>T (n.3627+49C>T) c.3609+49C>T (n.3609+49C>T) c.3546+49C>T (n.3546+49C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332517G>C | CA2581005420 | MYBPC3 | c.3627+49C>G (n.3627+49C>G) c.3609+49C>G (n.3609+49C>G) c.3546+49C>G (n.3546+49C>G) | |
11 | g.47332517G= | CA1969333940 | MYBPC3 | c.3627+49C= (n.3627+49C=) c.3609+49C= (n.3609+49C=) c.3546+49C= (n.3546+49C=) | |
11 | g.47332517G>T | CA2581005418 | MYBPC3 | c.3627+49C>A (n.3627+49C>A) c.3609+49C>A (n.3609+49C>A) c.3546+49C>A (n.3546+49C>A) | |
11 | g.47332518T>C | CA677013640 | MYBPC3 | c.3627+48A>G (n.3627+48A>G) c.3609+48A>G (n.3609+48A>G) c.3546+48A>G (n.3546+48A>G) | dbSNP gnomAD v4 |
11 | g.47332518T>G | CA2613356121 | MYBPC3 | c.3627+48A>C (n.3627+48A>C) c.3609+48A>C (n.3609+48A>C) c.3546+48A>C (n.3546+48A>C) | gnomAD v4 |
11 | g.47332518T= | CA1969333943 | MYBPC3 | c.3627+48A= (n.3627+48A=) c.3609+48A= (n.3609+48A=) c.3546+48A= (n.3546+48A=) | |
11 | g.47332519G>A | CA1969333947 | MYBPC3 | c.3627+47C>T (n.3627+47C>T) c.3609+47C>T (n.3609+47C>T) c.3546+47C>T (n.3546+47C>T) | dbSNP gnomAD v4 |
11 | g.47332519G= | CA1969333945 | MYBPC3 | c.3627+47C= (n.3627+47C=) c.3609+47C= (n.3609+47C=) c.3546+47C= (n.3546+47C=) | |
11 | g.47332519G>T | CA2838198202 | MYBPC3 | c.3627+47C>A (n.3627+47C>A) c.3609+47C>A (n.3609+47C>A) c.3546+47C>A (n.3546+47C>A) | |
11 | g.47332521G>A | CA599374074 | MYBPC3 | c.3627+45C>T (n.3627+45C>T) c.3609+45C>T (n.3609+45C>T) c.3546+45C>T (n.3546+45C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332521G>C | CA2613356122 | MYBPC3 | c.3627+45C>G (n.3627+45C>G) c.3609+45C>G (n.3609+45C>G) c.3546+45C>G (n.3546+45C>G) | gnomAD v4 |
11 | g.47332521G= | CA1969333949 | MYBPC3 | c.3627+45C= (n.3627+45C=) c.3609+45C= (n.3609+45C=) c.3546+45C= (n.3546+45C=) | |
11 | g.47332521G>T | CA2613392394 | MYBPC3 | c.3627+45C>A (n.3627+45C>A) c.3609+45C>A (n.3609+45C>A) c.3546+45C>A (n.3546+45C>A) | gnomAD v4 |
11 | g.47332522C>A | CA2613392395 | MYBPC3 | c.3627+44G>T (n.3627+44G>T) c.3609+44G>T (n.3609+44G>T) c.3546+44G>T (n.3546+44G>T) | gnomAD v4 |
11 | g.47332522C>T | CA2613392396 | MYBPC3 | c.3627+44G>A (n.3627+44G>A) c.3609+44G>A (n.3609+44G>A) c.3546+44G>A (n.3546+44G>A) | gnomAD v4 |
11 | g.47332522_47332525dup | CA677013650 | MYBPC3 | c.3627+41_3627+44dup (n.3627+41_3627+44dup) c.3609+41_3609+44dup (n.3609+41_3609+44dup) c.3546+41_3546+44dup (n.3546+41_3546+44dup) | dbSNP gnomAD v4 |
11 | g.47332523C>A | CA2841271673 | MYBPC3 | c.3627+43G>T (n.3627+43G>T) c.3609+43G>T (n.3609+43G>T) c.3546+43G>T (n.3546+43G>T) | |
11 | g.47332523C= | CA1969333953 | MYBPC3 | c.3627+43G= (n.3627+43G=) c.3609+43G= (n.3609+43G=) c.3546+43G= (n.3546+43G=) | |
11 | g.47332523C>G | CA599374075 | MYBPC3 | c.3627+43G>C (n.3627+43G>C) c.3609+43G>C (n.3609+43G>C) c.3546+43G>C (n.3546+43G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332523C>T | CA677013653 | MYBPC3 | c.3627+43G>A (n.3627+43G>A) c.3609+43G>A (n.3609+43G>A) c.3546+43G>A (n.3546+43G>A) | dbSNP |
11 | g.47332524C>A | CA2791331601 | MYBPC3 | c.3627+42G>T (n.3627+42G>T) c.3609+42G>T (n.3609+42G>T) c.3546+42G>T (n.3546+42G>T) | |
11 | g.47332524C>T | CA2791331602 | MYBPC3 | c.3627+42G>A (n.3627+42G>A) c.3609+42G>A (n.3609+42G>A) c.3546+42G>A (n.3546+42G>A) | |
11 | g.47332525T>A | CA1969333955 | MYBPC3 | c.3627+41A>T (n.3627+41A>T) c.3609+41A>T (n.3609+41A>T) c.3546+41A>T (n.3546+41A>T) | dbSNP |
11 | g.47332525T>C | CA2613392397 | MYBPC3 | c.3627+41A>G (n.3627+41A>G) c.3609+41A>G (n.3609+41A>G) c.3546+41A>G (n.3546+41A>G) | gnomAD v4 |
11 | g.47332525T= | CA1969333954 | MYBPC3 | c.3627+41A= (n.3627+41A=) c.3609+41A= (n.3609+41A=) c.3546+41A= (n.3546+41A=) | |
11 | g.47332526G>A | CA2613392398 | MYBPC3 | c.3627+40C>T (n.3627+40C>T) c.3609+40C>T (n.3609+40C>T) c.3546+40C>T (n.3546+40C>T) | gnomAD v4 |
11 | g.47332526G>T | CA2841271674 | MYBPC3 | c.3627+40C>A (n.3627+40C>A) c.3609+40C>A (n.3609+40C>A) c.3546+40C>A (n.3546+40C>A) | |
11 | g.47332527C>A | CA677013655 | MYBPC3 | c.3627+39G>T (n.3627+39G>T) c.3609+39G>T (n.3609+39G>T) c.3546+39G>T (n.3546+39G>T) | dbSNP |
11 | g.47332527C= | CA1969333957 | MYBPC3 | c.3627+39G= (n.3627+39G=) c.3609+39G= (n.3609+39G=) c.3546+39G= (n.3546+39G=) | |
11 | g.47332528C>A | CA2613392399 | MYBPC3 | c.3627+38G>T (n.3627+38G>T) c.3609+38G>T (n.3609+38G>T) c.3546+38G>T (n.3546+38G>T) | gnomAD v4 |
11 | g.47332528C= | CA1969333959 | MYBPC3 | c.3627+38G= (n.3627+38G=) c.3609+38G= (n.3609+38G=) c.3546+38G= (n.3546+38G=) | |
11 | g.47332528C>T | CA079460 | MYBPC3 | c.3627+38G>A (n.3627+38G>A) c.3609+38G>A (n.3609+38G>A) c.3546+38G>A (n.3546+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332530C= | CA1969333962 | MYBPC3 | c.3627+36G= (n.3627+36G=) c.3609+36G= (n.3609+36G=) c.3546+36G= (n.3546+36G=) | |
11 | g.47332530C>G | CA2613392400 | MYBPC3 | c.3627+36G>C (n.3627+36G>C) c.3609+36G>C (n.3609+36G>C) c.3546+36G>C (n.3546+36G>C) | gnomAD v4 |
11 | g.47332530C>T | CA677013661 | MYBPC3 | c.3627+36G>A (n.3627+36G>A) c.3609+36G>A (n.3609+36G>A) c.3546+36G>A (n.3546+36G>A) | dbSNP gnomAD v4 |
11 | g.47332531C>T | CA054439 | MYBPC3 | c.3627+35G>A (n.3627+35G>A) c.3609+35G>A (n.3609+35G>A) c.3546+35G>A (n.3546+35G>A) | |
11 | g.47332532T>A | CA2838882476 | MYBPC3 | c.3627+34A>T (n.3627+34A>T) c.3609+34A>T (n.3609+34A>T) c.3546+34A>T (n.3546+34A>T) | |
11 | g.47332533G>C | CA2841271676 | MYBPC3 | c.3627+33C>G (n.3627+33C>G) c.3609+33C>G (n.3609+33C>G) c.3546+33C>G (n.3546+33C>G) | |
11 | g.47332533G>T | CA2613392401 | MYBPC3 | c.3627+33C>A (n.3627+33C>A) c.3609+33C>A (n.3609+33C>A) c.3546+33C>A (n.3546+33C>A) | gnomAD v4 |
11 | g.47332534del | CA2841271675 | MYBPC3 | c.3627+33del (n.3627+33del) c.3609+33del (n.3609+33del) c.3546+33del (n.3546+33del) | |
11 | g.47332534G>T | CA2841271677 | MYBPC3 | c.3627+32C>A (n.3627+32C>A) c.3609+32C>A (n.3609+32C>A) c.3546+32C>A (n.3546+32C>A) | |
11 | g.47332535T>A | CA2841271678 | MYBPC3 | c.3627+31A>T (n.3627+31A>T) c.3609+31A>T (n.3609+31A>T) c.3546+31A>T (n.3546+31A>T) | |
11 | g.47332536C>A | CA079459 | MYBPC3 | c.3627+30G>T (n.3627+30G>T) c.3609+30G>T (n.3609+30G>T) c.3546+30G>T (n.3546+30G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332536C= | CA1969333964 | MYBPC3 | c.3627+30G= (n.3627+30G=) c.3609+30G= (n.3609+30G=) c.3546+30G= (n.3546+30G=) | |
11 | g.47332536C>T | CA014518 | MYBPC3 | c.3627+30G>A (n.3627+30G>A) c.3609+30G>A (n.3609+30G>A) c.3546+30G>A (n.3546+30G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332537G>A | CA079457 | MYBPC3 | c.3627+29C>T (n.3627+29C>T) c.3609+29C>T (n.3609+29C>T) c.3546+29C>T (n.3546+29C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332537G= | CA1969333966 | MYBPC3 | c.3627+29C= (n.3627+29C=) c.3609+29C= (n.3609+29C=) c.3546+29C= (n.3546+29C=) | |
11 | g.47332537G>T | CA079455 | MYBPC3 | c.3627+29C>A (n.3627+29C>A) c.3609+29C>A (n.3609+29C>A) c.3546+29C>A (n.3546+29C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332538G>A | CA2613392402 | MYBPC3 | c.3627+28C>T (n.3627+28C>T) c.3609+28C>T (n.3609+28C>T) c.3546+28C>T (n.3546+28C>T) | gnomAD v4 |
11 | g.47332538G>C | CA2838882481 | MYBPC3 | c.3627+28C>G (n.3627+28C>G) c.3609+28C>G (n.3609+28C>G) c.3546+28C>G (n.3546+28C>G) | |
11 | g.47332538G>T | CA2841271679 | MYBPC3 | c.3627+28C>A (n.3627+28C>A) c.3609+28C>A (n.3609+28C>A) c.3546+28C>A (n.3546+28C>A) | |
11 | g.47332539C>A | CA054428 | MYBPC3 | c.3627+27G>T (n.3627+27G>T) c.3609+27G>T (n.3609+27G>T) c.3546+27G>T (n.3546+27G>T) | |
11 | g.47332539C>T | CA054422 | MYBPC3 | c.3627+27G>A (n.3627+27G>A) c.3609+27G>A (n.3609+27G>A) c.3546+27G>A (n.3546+27G>A) | gnomAD v4 |
11 | g.47332540C>A | CA2613392403 | MYBPC3 | c.3627+26G>T (n.3627+26G>T) c.3609+26G>T (n.3609+26G>T) c.3546+26G>T (n.3546+26G>T) | gnomAD v4 |
11 | g.47332540C>G | CA2613392404 | MYBPC3 | c.3627+26G>C (n.3627+26G>C) c.3609+26G>C (n.3609+26G>C) c.3546+26G>C (n.3546+26G>C) | gnomAD v4 |
11 | g.47332541T>A | CA2838882467 | MYBPC3 | c.3627+25A>T (n.3627+25A>T) c.3609+25A>T (n.3609+25A>T) c.3546+25A>T (n.3546+25A>T) | |
11 | g.47332541T>C | CA2613392405 | MYBPC3 | c.3627+25A>G (n.3627+25A>G) c.3609+25A>G (n.3609+25A>G) c.3546+25A>G (n.3546+25A>G) | gnomAD v4 |
11 | g.47332542G>C | CA2841271680 | MYBPC3 | c.3627+24C>G (n.3627+24C>G) c.3609+24C>G (n.3609+24C>G) c.3546+24C>G (n.3546+24C>G) | |
11 | g.47332542G>T | CA2613392406 | MYBPC3 | c.3627+24C>A (n.3627+24C>A) c.3609+24C>A (n.3609+24C>A) c.3546+24C>A (n.3546+24C>A) | gnomAD v4 |
11 | g.47332543G>A | CA079454 | MYBPC3 | c.3627+23C>T (n.3627+23C>T) c.3609+23C>T (n.3609+23C>T) c.3546+23C>T (n.3546+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332543G>C | CA599374076 | MYBPC3 | c.3627+23C>G (n.3627+23C>G) c.3609+23C>G (n.3609+23C>G) c.3546+23C>G (n.3546+23C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332543G= | CA1969333970 | MYBPC3 | c.3627+23C= (n.3627+23C=) c.3609+23C= (n.3609+23C=) c.3546+23C= (n.3546+23C=) | |
11 | g.47332543G>T | CA2841271681 | MYBPC3 | c.3627+23C>A (n.3627+23C>A) c.3609+23C>A (n.3609+23C>A) c.3546+23C>A (n.3546+23C>A) | |
11 | g.47332544A= | CA1969333972 | MYBPC3 | c.3627+22T= (n.3627+22T=) c.3609+22T= (n.3609+22T=) c.3546+22T= (n.3546+22T=) | |
11 | g.47332544A>C | CA1969333973 | MYBPC3 | c.3627+22T>G (n.3627+22T>G) c.3609+22T>G (n.3609+22T>G) c.3546+22T>G (n.3546+22T>G) | dbSNP |
11 | g.47332544A>G | CA2841271683 | MYBPC3 | c.3627+22T>C (n.3627+22T>C) c.3609+22T>C (n.3609+22T>C) c.3546+22T>C (n.3546+22T>C) | |
11 | g.47332544A>T | CA2841271682 | MYBPC3 | c.3627+22T>A (n.3627+22T>A) c.3609+22T>A (n.3609+22T>A) c.3546+22T>A (n.3546+22T>A) | |
11 | g.47332545C>T | CA2613392407 | MYBPC3 | c.3627+21G>A (n.3627+21G>A) c.3609+21G>A (n.3609+21G>A) c.3546+21G>A (n.3546+21G>A) | gnomAD v4 |
11 | g.47332546C>A | CA599374077 | MYBPC3 | c.3627+20G>T (n.3627+20G>T) c.3609+20G>T (n.3609+20G>T) c.3546+20G>T (n.3546+20G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332546C= | CA1969333974 | MYBPC3 | c.3627+20G= (n.3627+20G=) c.3609+20G= (n.3609+20G=) c.3546+20G= (n.3546+20G=) | |
11 | g.47332546C>T | CA2613392408 | MYBPC3 | c.3627+20G>A (n.3627+20G>A) c.3609+20G>A (n.3609+20G>A) c.3546+20G>A (n.3546+20G>A) | ClinVar gnomAD v4 |
11 | g.47332549_47332603del | CA2580084192 | MYBPC3 | c.3593_3627+20del c.3575_3609+20del c.3512_3546+20del | ClinVar |
11 | g.47332547A>T | CA2838882472 | MYBPC3 | c.3627+19T>A (n.3627+19T>A) c.3609+19T>A (n.3609+19T>A) c.3546+19T>A (n.3546+19T>A) | |
11 | g.47332549C>A | CA2613392409 | MYBPC3 | c.3627+17G>T (n.3627+17G>T) c.3609+17G>T (n.3609+17G>T) c.3546+17G>T (n.3546+17G>T) | gnomAD v4 |
11 | g.47332549C= | CA1969333976 | MYBPC3 | c.3627+17G= (n.3627+17G=) c.3609+17G= (n.3609+17G=) c.3546+17G= (n.3546+17G=) | |
11 | g.47332549C>T | CA079452 | MYBPC3 | c.3627+17G>A (n.3627+17G>A) c.3609+17G>A (n.3609+17G>A) c.3546+17G>A (n.3546+17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332550G>A | CA221682002 | MYBPC3 | c.3627+16C>T (n.3627+16C>T) c.3609+16C>T (n.3609+16C>T) c.3546+16C>T (n.3546+16C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332550G= | CA1969333979 | MYBPC3 | c.3627+16C= (n.3627+16C=) c.3609+16C= (n.3609+16C=) c.3546+16C= (n.3546+16C=) | |
11 | g.47332550G>T | CA2841271684 | MYBPC3 | c.3627+16C>A (n.3627+16C>A) c.3609+16C>A (n.3609+16C>A) c.3546+16C>A (n.3546+16C>A) | |
11 | g.47332551C>A | CA2613392410 | MYBPC3 | c.3627+15G>T (n.3627+15G>T) c.3609+15G>T (n.3609+15G>T) c.3546+15G>T (n.3546+15G>T) | gnomAD v4 |
11 | g.47332551C= | CA1969333981 | MYBPC3 | c.3627+15G= (n.3627+15G=) c.3609+15G= (n.3609+15G=) c.3546+15G= (n.3546+15G=) | |
11 | g.47332551C>T | CA599374078 | MYBPC3 | c.3627+15G>A (n.3627+15G>A) c.3609+15G>A (n.3609+15G>A) c.3546+15G>A (n.3546+15G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332552C= | CA1969333982 | MYBPC3 | c.3627+14G= (n.3627+14G=) c.3609+14G= (n.3609+14G=) c.3546+14G= (n.3546+14G=) | |
11 | g.47332552C>G | CA2613392411 | MYBPC3 | c.3627+14G>C (n.3627+14G>C) c.3609+14G>C (n.3609+14G>C) c.3546+14G>C (n.3546+14G>C) | gnomAD v4 |
11 | g.47332552C>T | CA054386 | MYBPC3 | c.3627+14G>A (n.3627+14G>A) c.3609+14G>A (n.3609+14G>A) c.3546+14G>A (n.3546+14G>A) | ClinVar dbSNP |
11 | g.47332553_47332555delinsTAA | CA1969333984 | MYBPC3 | c.3627+11_3627+13delinsTTA (n.3627+11_3627+13delinsTTA) c.3609+11_3609+13delinsTTA (n.3609+11_3609+13delinsTTA) c.3546+11_3546+13delinsTTA (n.3546+11_3546+13delinsTTA) | |
11 | g.47332554A= | CA1969333988 | MYBPC3 | c.3627+12T= (n.3627+12T=) c.3609+12T= (n.3609+12T=) c.3546+12T= (n.3546+12T=) | |
11 | g.47332554A>G | CA1969333991 | MYBPC3 | c.3627+12T>C (n.3627+12T>C) c.3609+12T>C (n.3609+12T>C) c.3546+12T>C (n.3546+12T>C) | ClinVar dbSNP |
11 | g.47332556del | CA014508 | MYBPC3 | c.3627+12del (n.3627+12del) c.3609+12del (n.3609+12del) c.3546+12del (n.3546+12del) | dbSNP |
11 | g.47332555_47332556del | CA1969333986 | MYBPC3 | c.3627+11_3627+12del (n.3627+11_3627+12del) c.3609+11_3609+12del (n.3609+11_3609+12del) c.3546+11_3546+12del (n.3546+11_3546+12del) | dbSNP |
11 | g.47332555A>G | CA2613392412 | MYBPC3 | c.3627+11T>C (n.3627+11T>C) c.3609+11T>C (n.3609+11T>C) c.3546+11T>C (n.3546+11T>C) | gnomAD v4 |
11 | g.47332555_47332559del | CA2791331610 | MYBPC3 | c.3627+7_3627+11del (n.3627+7_3627+11del) c.3609+7_3609+11del (n.3609+7_3609+11del) c.3546+7_3546+11del (n.3546+7_3546+11del) | |
11 | g.47332556A>G | CA2613392413 | MYBPC3 | c.3627+10T>C (n.3627+10T>C) c.3609+10T>C (n.3609+10T>C) c.3546+10T>C (n.3546+10T>C) | gnomAD v4 |
11 | g.47332557G>A | CA2613392414 | MYBPC3 | c.3627+9C>T (n.3627+9C>T) c.3609+9C>T (n.3609+9C>T) c.3546+9C>T (n.3546+9C>T) | dbSNP gnomAD v4 |
11 | g.47332559T>C | CA2841271685 | MYBPC3 | c.3627+7A>G (n.3627+7A>G) c.3609+7A>G (n.3609+7A>G) c.3546+7A>G (n.3546+7A>G) | |
11 | g.47332560C>A | CA10635052 | MYBPC3 | c.3627+6G>T (n.3627+6G>T) c.3609+6G>T (n.3609+6G>T) c.3546+6G>T (n.3546+6G>T) | ClinVar dbSNP |
11 | g.47332560C= | CA1969333996 | MYBPC3 | c.3627+6G= (n.3627+6G=) c.3609+6G= (n.3609+6G=) c.3546+6G= (n.3546+6G=) | |
11 | g.47332560C>G | CA599374079 | MYBPC3 | c.3627+6G>C (n.3627+6G>C) c.3609+6G>C (n.3609+6G>C) c.3546+6G>C (n.3546+6G>C) | dbSNP gnomAD v2 |
11 | g.47332560C>T | CA599374080 | MYBPC3 | c.3627+6G>A (n.3627+6G>A) c.3609+6G>A (n.3609+6G>A) c.3546+6G>A (n.3546+6G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332561C>T | CA2613392416 | MYBPC3 | c.3627+5G>A (n.3627+5G>A) c.3609+5G>A (n.3609+5G>A) c.3546+5G>A (n.3546+5G>A) | gnomAD v4 |
11 | g.47332562C>G | CA2613392417 | MYBPC3 | c.3627+4G>C (n.3627+4G>C) c.3609+4G>C (n.3609+4G>C) c.3546+4G>C (n.3546+4G>C) | gnomAD v4 |
11 | g.47332562C>T | CA2841271686 | MYBPC3 | c.3627+4G>A (n.3627+4G>A) c.3609+4G>A (n.3609+4G>A) c.3546+4G>A (n.3546+4G>A) | |
11 | g.47332563T>C | CA1969334001 | MYBPC3 | c.3627+3A>G (n.3627+3A>G) c.3609+3A>G (n.3609+3A>G) c.3546+3A>G (n.3546+3A>G) | dbSNP |
11 | g.47332563T= | CA1969334000 | MYBPC3 | c.3627+3A= (n.3627+3A=) c.3609+3A= (n.3609+3A=) c.3546+3A= (n.3546+3A=) | |
11 | g.47332563_47332564del | CA2791331613 | MYBPC3 | c.3627+2_3627+3del (n.3627+2_3627+3del) c.3609+2_3609+3del (n.3609+2_3609+3del) c.3546+2_3546+3del (n.3546+2_3546+3del) | |
11 | g.47332563_47332564delinsTA | CA1969334003 | MYBPC3 | c.3627+2_3627+3delinsTA (n.3627+2_3627+3delinsTA) c.3609+2_3609+3delinsTA (n.3609+2_3609+3delinsTA) c.3546+2_3546+3delinsTA (n.3546+2_3546+3delinsTA) | |
11 | g.47332564del | CA658797619 | MYBPC3 | c.3627+2del (n.3627+2del) c.3609+2del (n.3609+2del) c.3546+2del (n.3546+2del) | ClinVar dbSNP |
11 | g.47332564A= | CA1969334014 | MYBPC3 | c.3627+2T= (n.3627+2T=) c.3609+2T= (n.3609+2T=) c.3546+2T= (n.3546+2T=) | |
11 | g.47332564A>C | CA380312126 | MYBPC3 | c.3627+2T>G (n.3627+2T>G) c.3609+2T>G (n.3609+2T>G) c.3546+2T>G (n.3546+2T>G) | ClinVar dbSNP |
11 | g.47332564A>G | CA380312131 | MYBPC3 | c.3627+2T>C (n.3627+2T>C) c.3609+2T>C (n.3609+2T>C) c.3546+2T>C (n.3546+2T>C) | ClinVar dbSNP |
11 | g.47332564A>T | CA380312133 | MYBPC3 | c.3627+2T>A (n.3627+2T>A) c.3609+2T>A (n.3609+2T>A) c.3546+2T>A (n.3546+2T>A) | dbSNP gnomAD v2 |
11 | g.47332565C>A | CA380312136 | MYBPC3 | c.3627+1G>T (n.3627+1G>T) c.3609+1G>T (n.3609+1G>T) c.3546+1G>T (n.3546+1G>T) | gnomAD v4 |
11 | g.47332565C= | CA1969334021 | MYBPC3 | c.3627+1G= (n.3627+1G=) c.3609+1G= (n.3609+1G=) c.3546+1G= (n.3546+1G=) | |
11 | g.47332565C>G | CA380312137 | MYBPC3 | c.3627+1G>C (n.3627+1G>C) c.3609+1G>C (n.3609+1G>C) c.3546+1G>C (n.3546+1G>C) | dbSNP |
11 | g.47332565C>T | CA014514 | MYBPC3 | c.3627+1G>A (n.3627+1G>A) c.3609+1G>A (n.3609+1G>A) c.3546+1G>A (n.3546+1G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.47332566C>A | CA380312148 | MYBPC3 | c.3627G>T (p.Lys1209Asn) c.3609G>T (p.Lys1203Asn) c.3546G>T (p.Lys1182Asn) | |
11 | g.47332566C= | CA1969334027 | MYBPC3 | c.3627G= (p.Lys1209=) c.3609G= (p.Lys1203=) c.3546G= (p.Lys1182=) | |
11 | g.47332566C>G | CA380312144 | MYBPC3 | c.3627G>C (p.Lys1209Asn) c.3609G>C (p.Lys1203Asn) c.3546G>C (p.Lys1182Asn) | |
11 | g.47332566C>T | CA474428880 | MYBPC3 | c.3627G>A (p.Lys1209=) c.3609G>A (p.Lys1203=) c.3546G>A (p.Lys1182=) | ClinVar dbSNP |
11 | g.47332566_47332569del | CA2791331615 | MYBPC3 | c.3624_3627del (p.Lys1209ProfsTer27) c.3606_3609del (p.Lys1203ProfsTer27) c.3543_3546del (p.Lys1182ProfsTer27) | |
11 | g.47332567T>A | CA380312151 | MYBPC3 | c.3626A>T (p.Lys1209Met) c.3608A>T (p.Lys1203Met) c.3545A>T (p.Lys1182Met) | |
11 | g.47332567T>C | CA380312160 | MYBPC3 | c.3626A>G (p.Lys1209Arg) c.3608A>G (p.Lys1203Arg) c.3545A>G (p.Lys1182Arg) | dbSNP |
11 | g.47332567T>G | CA380312161 | MYBPC3 | c.3626A>C (p.Lys1209Thr) c.3608A>C (p.Lys1203Thr) c.3545A>C (p.Lys1182Thr) | |
11 | g.47332567T= | CA1969334033 | MYBPC3 | c.3626A= (p.Lys1209=) c.3608A= (p.Lys1203=) c.3545A= (p.Lys1182=) | |
11 | g.47332568T>A | CA380312164 | MYBPC3 | c.3625A>T (p.Lys1209Ter) c.3607A>T (p.Lys1203Ter) c.3544A>T (p.Lys1182Ter) | |
11 | g.47332568T>C | CA380312165 | MYBPC3 | c.3625A>G (p.Lys1209Glu) c.3607A>G (p.Lys1203Glu) c.3544A>G (p.Lys1182Glu) | |
11 | g.47332568T>G | CA380312167 | MYBPC3 | c.3625A>C (p.Lys1209Gln) c.3607A>C (p.Lys1203Gln) c.3544A>C (p.Lys1182Gln) | |
11 | g.47332568_47332569delinsTG | CA1969334034 | MYBPC3 | c.3624_3625delinsCA (p.Pro1208=) c.3606_3607delinsCA (p.Pro1202=) c.3543_3544delinsCA (p.Pro1181=) | |
11 | g.47332569G>A | CA474428884 | MYBPC3 | c.3624C>T (p.Pro1208=) c.3606C>T (p.Pro1202=) c.3543C>T (p.Pro1181=) | |
11 | g.47332569G>C | CA474428883 | MYBPC3 | c.3624C>G (p.Pro1208=) c.3606C>G (p.Pro1202=) c.3543C>G (p.Pro1181=) | |
11 | g.47332569G>T | CA474428882 | MYBPC3 | c.3624C>A (p.Pro1208=) c.3606C>A (p.Pro1202=) c.3543C>A (p.Pro1181=) | |
11 | g.47332572dup | CA014487 | MYBPC3 | c.3624dup (p.Lys1209GlnfsTer?) c.3606dup (p.Lys1203GlnfsTer?) c.3543dup (p.Lys1182GlnfsTer?) | ClinVar dbSNP |
11 | g.47332572del | CA014493 | MYBPC3 | c.3624del (p.Lys1209SerfsTer28) c.3606del (p.Lys1203SerfsTer28) c.3543del (p.Lys1182SerfsTer28) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332570G>A | CA380312178 | MYBPC3 | c.3623C>T (p.Pro1208Leu) c.3605C>T (p.Pro1202Leu) c.3542C>T (p.Pro1181Leu) | |
11 | g.47332570G>C | CA380312180 | MYBPC3 | c.3623C>G (p.Pro1208Arg) c.3605C>G (p.Pro1202Arg) c.3542C>G (p.Pro1181Arg) | ClinVar |
11 | g.47332570G>T | CA380312182 | MYBPC3 | c.3623C>A (p.Pro1208His) c.3605C>A (p.Pro1202His) c.3542C>A (p.Pro1181His) | |
11 | g.47332570_47332573dup | CA2573051241 | MYBPC3 | c.3620_3623dup (p.Lys1209ProfsTer?) c.3602_3605dup (p.Lys1203ProfsTer?) c.3539_3542dup (p.Lys1182ProfsTer?) | |
11 | g.47332571G>A | CA380312186 | MYBPC3 | c.3622C>T (p.Pro1208Ser) c.3604C>T (p.Pro1202Ser) c.3541C>T (p.Pro1181Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.47332571G>C | CA380312189 | MYBPC3 | c.3622C>G (p.Pro1208Ala) c.3604C>G (p.Pro1202Ala) c.3541C>G (p.Pro1181Ala) | ClinVar |
11 | g.47332571G>T | CA380312194 | MYBPC3 | c.3622C>A (p.Pro1208Thr) c.3604C>A (p.Pro1202Thr) c.3541C>A (p.Pro1181Thr) | |
11 | g.47332572G>A | CA474428888 | MYBPC3 | c.3621C>T (p.Ser1207=) c.3603C>T (p.Ser1201=) c.3540C>T (p.Ser1180=) | gnomAD v4 |
11 | g.47332572G>C | CA380312198 | MYBPC3 | c.3621C>G (p.Ser1207Arg) c.3603C>G (p.Ser1201Arg) c.3540C>G (p.Ser1180Arg) | |
11 | g.47332572G>T | CA380312201 | MYBPC3 | c.3621C>A (p.Ser1207Arg) c.3603C>A (p.Ser1201Arg) c.3540C>A (p.Ser1180Arg) | |
11 | g.47332572_47332573delinsGC | CA1969334044 | MYBPC3 | c.3620_3621delinsGC (p.Ser1207=) c.3602_3603delinsGC (p.Ser1201=) c.3539_3540delinsGC (p.Ser1180=) | |
11 | g.47332573del | CA1139659385 | MYBPC3 | c.3620del (p.Ser1207ThrfsTer30) c.3602del (p.Ser1201ThrfsTer30) c.3539del (p.Ser1180ThrfsTer30) | ClinVar dbSNP |
11 | g.47332573C>A | CA079451 | MYBPC3 | c.3620G>T (p.Ser1207Ile) c.3602G>T (p.Ser1201Ile) c.3539G>T (p.Ser1180Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332573C= | CA1969334050 | MYBPC3 | c.3620G= (p.Ser1207=) c.3602G= (p.Ser1201=) c.3539G= (p.Ser1180=) | |
11 | g.47332573C>G | CA380312210 | MYBPC3 | c.3620G>C (p.Ser1207Thr) c.3602G>C (p.Ser1201Thr) c.3539G>C (p.Ser1180Thr) | |
11 | g.47332573C>T | CA380312207 | MYBPC3 | c.3620G>A (p.Ser1207Asn) c.3602G>A (p.Ser1201Asn) c.3539G>A (p.Ser1180Asn) | gnomAD v4 |
11 | g.47332574T>A | CA380312215 | MYBPC3 | c.3619A>T (p.Ser1207Cys) c.3601A>T (p.Ser1201Cys) c.3538A>T (p.Ser1180Cys) | |
11 | g.47332574T>C | CA380312221 | MYBPC3 | c.3619A>G (p.Ser1207Gly) c.3601A>G (p.Ser1201Gly) c.3538A>G (p.Ser1180Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332574T>G | CA380312218 | MYBPC3 | c.3619A>C (p.Ser1207Arg) c.3601A>C (p.Ser1201Arg) c.3538A>C (p.Ser1180Arg) | |
11 | g.47332574T= | CA1969334056 | MYBPC3 | c.3619A= (p.Ser1207=) c.3601A= (p.Ser1201=) c.3538A= (p.Ser1180=) | |
11 | g.47332575A>C | CA474428892 | MYBPC3 | c.3618T>G (p.Gly1206=) c.3600T>G (p.Gly1200=) c.3537T>G (p.Gly1179=) | |
11 | g.47332575A>G | CA474428893 | MYBPC3 | c.3618T>C (p.Gly1206=) c.3600T>C (p.Gly1200=) c.3537T>C (p.Gly1179=) | gnomAD v4 |
11 | g.47332575A>T | CA474428894 | MYBPC3 | c.3618T>A (p.Gly1206=) c.3600T>A (p.Gly1200=) c.3537T>A (p.Gly1179=) | gnomAD v4 |
11 | g.47332575_47332576del | CA2695213904 | MYBPC3 | c.3617_3618del (p.Gly1206GlufsTer?) c.3599_3600del (p.Gly1200GlufsTer?) c.3536_3537del (p.Gly1179GlufsTer?) | |
11 | g.47332575_47332576delinsAC | CA1969334059 | MYBPC3 | c.3617_3618delinsGT (p.Gly1206=) c.3599_3600delinsGT (p.Gly1200=) c.3536_3537delinsGT (p.Gly1179=) | |
11 | g.47332576C>A | CA054375 | MYBPC3 | c.3617G>T (p.Gly1206Val) c.3599G>T (p.Gly1200Val) c.3536G>T (p.Gly1179Val) | ClinVar dbSNP |
11 | g.47332576C= | CA1969334064 | MYBPC3 | c.3617G= (p.Gly1206=) c.3599G= (p.Gly1200=) c.3536G= (p.Gly1179=) | |
11 | g.47332576C>G | CA380312229 | MYBPC3 | c.3617G>C (p.Gly1206Ala) c.3599G>C (p.Gly1200Ala) c.3536G>C (p.Gly1179Ala) | |
11 | g.47332576C>T | CA16042795 | MYBPC3 | c.3617G>A (p.Gly1206Asp) c.3599G>A (p.Gly1200Asp) c.3536G>A (p.Gly1179Asp) | ClinVar dbSNP gnomAD v4 |
11 | g.47332576_47332577delinsTT | CA2580084194 | MYBPC3 | c.3616_3617delinsAA (p.Gly1206Asn) c.3598_3599delinsAA (p.Gly1200Asn) c.3535_3536delinsAA (p.Gly1179Asn) | ClinVar |
11 | g.47332579del | CA16613343 | MYBPC3 | c.3617del (p.Gly1206ValfsTer?) c.3599del (p.Gly1200ValfsTer?) c.3536del (p.Gly1179ValfsTer?) | ClinVar dbSNP |
11 | g.47332577C>A | CA380312232 | MYBPC3 | c.3616G>T (p.Gly1206Cys) c.3598G>T (p.Gly1200Cys) c.3535G>T (p.Gly1179Cys) | |
11 | g.47332577C>G | CA380312235 | MYBPC3 | c.3616G>C (p.Gly1206Arg) c.3598G>C (p.Gly1200Arg) c.3535G>C (p.Gly1179Arg) | |
11 | g.47332577C>T | CA380312237 | MYBPC3 | c.3616G>A (p.Gly1206Ser) c.3598G>A (p.Gly1200Ser) c.3535G>A (p.Gly1179Ser) | |
11 | g.47332578C>A | CA474428895 | MYBPC3 | c.3615G>T (p.Arg1205=) c.3597G>T (p.Arg1199=) c.3534G>T (p.Arg1178=) | dbSNP |
11 | g.47332578C= | CA1969334069 | MYBPC3 | c.3615G= (p.Arg1205=) c.3597G= (p.Arg1199=) c.3534G= (p.Arg1178=) | |
11 | g.47332578C>G | CA474428896 | MYBPC3 | c.3615G>C (p.Arg1205=) c.3597G>C (p.Arg1199=) c.3534G>C (p.Arg1178=) | ClinVar dbSNP gnomAD v4 |
11 | g.47332578C>T | CA079448 | MYBPC3 | c.3615G>A (p.Arg1205=) c.3597G>A (p.Arg1199=) c.3534G>A (p.Arg1178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47332579C>A | CA380312245 | MYBPC3 | c.3614G>T (p.Arg1205Leu) c.3596G>T (p.Arg1199Leu) c.3533G>T (p.Arg1178Leu) | |
11 | g.47332579C= | CA1969334075 | MYBPC3 | c.3614G= (p.Arg1205=) c.3596G= (p.Arg1199=) c.3533G= (p.Arg1178=) | |
11 | g.47332579C>G | CA380312247 | MYBPC3 | c.3614G>C (p.Arg1205Pro) c.3596G>C (p.Arg1199Pro) c.3533G>C (p.Arg1178Pro) | ClinVar dbSNP |
11 | g.47332579C>T | CA014478 | MYBPC3 | c.3614G>A (p.Arg1205Gln) c.3596G>A (p.Arg1199Gln) c.3533G>A (p.Arg1178Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332580G>A | CA014469 | MYBPC3 | c.3613C>T (p.Arg1205Trp) c.3595C>T (p.Arg1199Trp) c.3532C>T (p.Arg1178Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332580G>C | CA054456 | MYBPC3 | c.3613C>G (p.Arg1205Gly) c.3595C>G (p.Arg1199Gly) c.3532C>G (p.Arg1178Gly) | |
11 | g.47332580G= | CA1969334088 | MYBPC3 | c.3613C= (p.Arg1205=) c.3595C= (p.Arg1199=) c.3532C= (p.Arg1178=) | |
11 | g.47332580G>T | CA474428897 | MYBPC3 | c.3613C>A (p.Arg1205=) c.3595C>A (p.Arg1199=) c.3532C>A (p.Arg1178=) | gnomAD v4 |
11 | g.47332581G>A | CA474428898 | MYBPC3 | c.3612C>T (p.Val1204=) c.3594C>T (p.Val1198=) c.3531C>T (p.Val1177=) | |
11 | g.47332581G>C | CA474428899 | MYBPC3 | c.3612C>G (p.Val1204=) c.3594C>G (p.Val1198=) c.3531C>G (p.Val1177=) | |
11 | g.47332581G>T | CA474428900 | MYBPC3 | c.3612C>A (p.Val1204=) c.3594C>A (p.Val1198=) c.3531C>A (p.Val1177=) | gnomAD v4 |
11 | g.47332582A= | CA1969334096 | MYBPC3 | c.3611T= (p.Val1204=) c.3593T= (p.Val1198=) c.3530T= (p.Val1177=) | |
11 | g.47332582A>C | CA380312258 | MYBPC3 | c.3611T>G (p.Val1204Gly) c.3593T>G (p.Val1198Gly) c.3530T>G (p.Val1177Gly) | |
11 | g.47332582A>G | CA014459 | MYBPC3 | c.3611T>C (p.Val1204Ala) c.3593T>C (p.Val1198Ala) c.3530T>C (p.Val1177Ala) | ClinVar dbSNP |
11 | g.47332582A>T | CA380312264 | MYBPC3 | c.3611T>A (p.Val1204Asp) c.3593T>A (p.Val1198Asp) c.3530T>A (p.Val1177Asp) | |
11 | g.47332588_47332592dup | CA2580615677 | MYBPC3 | c.3607_3611dup (p.Arg1205LeufsTer?) c.3589_3593dup (p.Arg1199LeufsTer?) c.3526_3530dup (p.Arg1178LeufsTer?) | ClinVar |
11 | g.47332583C>A | CA380312268 | MYBPC3 | c.3610G>T (p.Val1204Phe) c.3592G>T (p.Val1198Phe) c.3529G>T (p.Val1177Phe) | |
11 | g.47332583C= | CA1969334108 | MYBPC3 | c.3610G= (p.Val1204=) c.3592G= (p.Val1198=) c.3529G= (p.Val1177=) | |
11 | g.47332583C>G | CA380312274 | MYBPC3 | c.3610G>C (p.Val1204Leu) c.3592G>C (p.Val1198Leu) c.3529G>C (p.Val1177Leu) | |
11 | g.47332583C>T | CA380312272 | MYBPC3 | c.3610G>A (p.Val1204Ile) c.3592G>A (p.Val1198Ile) c.3529G>A (p.Val1177Ile) | dbSNP |
11 | g.47332583_47332593delinsCAGCACAGCAG | CA1969334106 | MYBPC3 | c.3600_3610delinsCTGCTGTGCTG (p.Leu1200=) c.3582_3592delinsCTGCTGTGCTG (p.Leu1194=) c.3519_3529delinsCTGCTGTGCTG (p.Leu1173=) | |
11 | g.47332584A>C | CA474428903 | MYBPC3 | c.3609T>G (p.Ala1203=) c.3591T>G (p.Ala1197=) c.3528T>G (p.Ala1176=) | |
11 | g.47332584A>G | CA474428904 | MYBPC3 | c.3609T>C (p.Ala1203=) c.3591T>C (p.Ala1197=) c.3528T>C (p.Ala1176=) | |
11 | g.47332584A>T | CA474428902 | MYBPC3 | c.3609T>A (p.Ala1203=) c.3591T>A (p.Ala1197=) c.3528T>A (p.Ala1176=) | |
11 | g.47332588_47332597dup | CA2580084197 | MYBPC3 | c.3600_3609dup (p.Val1204LeufsTer7) c.3582_3591dup (p.Val1198LeufsTer7) c.3519_3528dup (p.Val1177LeufsTer7) | ClinVar |
11 | g.47332588_47332597del | CA014440 | MYBPC3 | c.3600_3609del (p.Cys1201SerfsTer?) c.3582_3591del (p.Cys1195SerfsTer?) c.3519_3528del (p.Cys1174SerfsTer?) | ClinVar dbSNP |
11 | g.47332585G>A | CA380312282 | MYBPC3 | c.3608C>T (p.Ala1203Val) c.3590C>T (p.Ala1197Val) c.3527C>T (p.Ala1176Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332585G>C | CA380312285 | MYBPC3 | c.3608C>G (p.Ala1203Gly) c.3590C>G (p.Ala1197Gly) c.3527C>G (p.Ala1176Gly) | |
11 | g.47332585G= | CA1969334125 | MYBPC3 | c.3608C= (p.Ala1203=) c.3590C= (p.Ala1197=) c.3527C= (p.Ala1176=) | |
11 | g.47332585G>T | CA380312287 | MYBPC3 | c.3608C>A (p.Ala1203Asp) c.3590C>A (p.Ala1197Asp) c.3527C>A (p.Ala1176Asp) | |
11 | g.47332586C>A | CA380312290 | MYBPC3 | c.3607G>T (p.Ala1203Ser) c.3589G>T (p.Ala1197Ser) c.3526G>T (p.Ala1176Ser) | gnomAD v4 |
11 | g.47332586C>G | CA380312292 | MYBPC3 | c.3607G>C (p.Ala1203Pro) c.3589G>C (p.Ala1197Pro) c.3526G>C (p.Ala1176Pro) | |
11 | g.47332586C>T | CA380312296 | MYBPC3 | c.3607G>A (p.Ala1203Thr) c.3589G>A (p.Ala1197Thr) c.3526G>A (p.Ala1176Thr) | |
11 | g.47332587A= | CA1969334129 | MYBPC3 | c.3606T= (p.Cys1202=) c.3588T= (p.Cys1196=) c.3525T= (p.Cys1175=) | |
11 | g.47332587A>C | CA380312298 | MYBPC3 | c.3606T>G (p.Cys1202Trp) c.3588T>G (p.Cys1196Trp) c.3525T>G (p.Cys1175Trp) | |
11 | g.47332587A>G | CA221682038 | MYBPC3 | c.3606T>C (p.Cys1202=) c.3588T>C (p.Cys1196=) c.3525T>C (p.Cys1175=) | ClinVar dbSNP gnomAD v4 |
11 | g.47332587A>T | CA380312301 | MYBPC3 | c.3606T>A (p.Cys1202Ter) c.3588T>A (p.Cys1196Ter) c.3525T>A (p.Cys1175Ter) | |
11 | g.47332588del | CA2573051215 | MYBPC3 | c.3605del (p.Cys1202LeufsTer?) c.3587del (p.Cys1196LeufsTer?) c.3524del (p.Cys1175LeufsTer?) | |
11 | g.47332588C>A | CA380312309 | MYBPC3 | c.3605G>T (p.Cys1202Phe) c.3587G>T (p.Cys1196Phe) c.3524G>T (p.Cys1175Phe) | |
11 | g.47332588C= | CA1969334138 | MYBPC3 | c.3605G= (p.Cys1202=) c.3587G= (p.Cys1196=) c.3524G= (p.Cys1175=) | |
11 | g.47332588C>G | CA16613579 | MYBPC3 | c.3605G>C (p.Cys1202Ser) c.3587G>C (p.Cys1196Ser) c.3524G>C (p.Cys1175Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47332588C>T | CA014449 | MYBPC3 | c.3605G>A (p.Cys1202Tyr) c.3587G>A (p.Cys1196Tyr) c.3524G>A (p.Cys1175Tyr) | ClinVar dbSNP |
11 | g.47332589A>C | CA380312311 | MYBPC3 | c.3604T>G (p.Cys1202Gly) c.3586T>G (p.Cys1196Gly) c.3523T>G (p.Cys1175Gly) | |
11 | g.47332589A>G | CA380312314 | MYBPC3 | c.3604T>C (p.Cys1202Arg) c.3586T>C (p.Cys1196Arg) c.3523T>C (p.Cys1175Arg) | |
11 | g.47332589A>T | CA380312316 | MYBPC3 | c.3604T>A (p.Cys1202Ser) c.3586T>A (p.Cys1196Ser) c.3523T>A (p.Cys1175Ser) | |
11 | g.47332590G>A | CA474428929 | MYBPC3 | c.3603C>T (p.Cys1201=) c.3585C>T (p.Cys1195=) c.3522C>T (p.Cys1174=) | |
11 | g.47332590G>C | CA380312320 | MYBPC3 | c.3603C>G (p.Cys1201Trp) c.3585C>G (p.Cys1195Trp) c.3522C>G (p.Cys1174Trp) | |
11 | g.47332590G>T | CA380312328 | MYBPC3 | c.3603C>A (p.Cys1201Ter) c.3585C>A (p.Cys1195Ter) c.3522C>A (p.Cys1174Ter) | |
11 | g.47332591C>A | CA380312334 | MYBPC3 | c.3602G>T (p.Cys1201Phe) c.3584G>T (p.Cys1195Phe) c.3521G>T (p.Cys1174Phe) | |
11 | g.47332591C= | CA1969334146 | MYBPC3 | c.3602G= (p.Cys1201=) c.3584G= (p.Cys1195=) c.3521G= (p.Cys1174=) | |
11 | g.47332591C>G | CA380312337 | MYBPC3 | c.3602G>C (p.Cys1201Ser) c.3584G>C (p.Cys1195Ser) c.3521G>C (p.Cys1174Ser) | gnomAD v4 |
11 | g.47332591C>T | CA380312340 | MYBPC3 | c.3602G>A (p.Cys1201Tyr) c.3584G>A (p.Cys1195Tyr) c.3521G>A (p.Cys1174Tyr) | dbSNP |
11 | g.47332592A>C | CA380312343 | MYBPC3 | c.3601T>G (p.Cys1201Gly) c.3583T>G (p.Cys1195Gly) c.3520T>G (p.Cys1174Gly) | |
11 | g.47332592A>G | CA380312346 | MYBPC3 | c.3601T>C (p.Cys1201Arg) c.3583T>C (p.Cys1195Arg) c.3520T>C (p.Cys1174Arg) | |
11 | g.47332592A>T | CA380312348 | MYBPC3 | c.3601T>A (p.Cys1201Ser) c.3583T>A (p.Cys1195Ser) c.3520T>A (p.Cys1174Ser) | |
11 | g.47332593G>A | CA054468 | MYBPC3 | c.3600C>T (p.Leu1200=) c.3582C>T (p.Leu1194=) c.3519C>T (p.Leu1173=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47332593G>C | CA474428930 | MYBPC3 | c.3600C>G (p.Leu1200=) c.3582C>G (p.Leu1194=) c.3519C>G (p.Leu1173=) | |
11 | g.47332593G= | CA1969334149 | MYBPC3 | c.3600C= (p.Leu1200=) c.3582C= (p.Leu1194=) c.3519C= (p.Leu1173=) | |
11 | g.47332593G>T | CA474428931 | MYBPC3 | c.3600C>A (p.Leu1200=) c.3582C>A (p.Leu1194=) c.3519C>A (p.Leu1173=) | |
11 | g.47332594A= | CA1969334154 | MYBPC3 | c.3599T= (p.Leu1200=) c.3581T= (p.Leu1194=) c.3518T= (p.Leu1173=) | |
11 | g.47332594A>C | CA380312358 | MYBPC3 | c.3599T>G (p.Leu1200Arg) c.3581T>G (p.Leu1194Arg) c.3518T>G (p.Leu1173Arg) | |
11 | g.47332594A>G | CA014395 | MYBPC3 | c.3599T>C (p.Leu1200Pro) c.3581T>C (p.Leu1194Pro) c.3518T>C (p.Leu1173Pro) | ClinVar dbSNP |
11 | g.47332594A>T | CA380312352 | MYBPC3 | c.3599T>A (p.Leu1200His) c.3581T>A (p.Leu1194His) c.3518T>A (p.Leu1173His) | gnomAD v4 |
11 | g.47332595G>A | CA380312363 | MYBPC3 | c.3598C>T (p.Leu1200Phe) c.3580C>T (p.Leu1194Phe) c.3517C>T (p.Leu1173Phe) | |
11 | g.47332595G>C | CA380312366 | MYBPC3 | c.3598C>G (p.Leu1200Val) c.3580C>G (p.Leu1194Val) c.3517C>G (p.Leu1173Val) | |
11 | g.47332595G>T | CA380312369 | MYBPC3 | c.3598C>A (p.Leu1200Ile) c.3580C>A (p.Leu1194Ile) c.3517C>A (p.Leu1173Ile) | |
11 | g.47332596C>A | CA380312372 | MYBPC3 | c.3597G>T (p.Met1199Ile) c.3579G>T (p.Met1193Ile) c.3516G>T (p.Met1172Ile) | |
11 | g.47332596C= | CA1969334160 | MYBPC3 | c.3597G= (p.Met1199=) c.3579G= (p.Met1193=) c.3516G= (p.Met1172=) | |
11 | g.47332596C>G | CA380312376 | MYBPC3 | c.3597G>C (p.Met1199Ile) c.3579G>C (p.Met1193Ile) c.3516G>C (p.Met1172Ile) | dbSNP |
11 | g.47332596C>T | CA380312377 | MYBPC3 | c.3597G>A (p.Met1199Ile) c.3579G>A (p.Met1193Ile) c.3516G>A (p.Met1172Ile) | gnomAD v4 |