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.47333115G>A | CA2613393027 | MYBPC3 | c.3330+79C>T (n.3330+79C>T) c.3312+79C>T (n.3312+79C>T) c.3249+79C>T (n.3249+79C>T) | gnomAD v4 |
11 | g.47333116G>T | CA2613393028 | MYBPC3 | c.3330+78C>A (n.3330+78C>A) c.3312+78C>A (n.3312+78C>A) c.3249+78C>A (n.3249+78C>A) | gnomAD v4 |
11 | g.47333118C>A | CA221682384 | MYBPC3 | c.3330+76G>T (n.3330+76G>T) c.3312+76G>T (n.3312+76G>T) c.3249+76G>T (n.3249+76G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333118C= | CA1969334959 | MYBPC3 | c.3330+76G= (n.3330+76G=) c.3312+76G= (n.3312+76G=) c.3249+76G= (n.3249+76G=) | |
11 | g.47333118C>T | CA677014597 | MYBPC3 | c.3330+76G>A (n.3330+76G>A) c.3312+76G>A (n.3312+76G>A) c.3249+76G>A (n.3249+76G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333120G>A | CA677014605 | MYBPC3 | c.3330+74C>T (n.3330+74C>T) c.3312+74C>T (n.3312+74C>T) c.3249+74C>T (n.3249+74C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333120G= | CA1969334961 | MYBPC3 | c.3330+74C= (n.3330+74C=) c.3312+74C= (n.3312+74C=) c.3249+74C= (n.3249+74C=) | |
11 | g.47333120G>T | CA2613393033 | MYBPC3 | c.3330+74C>A (n.3330+74C>A) c.3312+74C>A (n.3312+74C>A) c.3249+74C>A (n.3249+74C>A) | gnomAD v4 |
11 | g.47333121T>A | CA2574815749 | MYBPC3 | c.3330+73A>T (n.3330+73A>T) c.3312+73A>T (n.3312+73A>T) c.3249+73A>T (n.3249+73A>T) | gnomAD v4 |
11 | g.47333121T>C | CA677014607 | MYBPC3 | c.3330+73A>G (n.3330+73A>G) c.3312+73A>G (n.3312+73A>G) c.3249+73A>G (n.3249+73A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333121T= | CA1969334963 | MYBPC3 | c.3330+73A= (n.3330+73A=) c.3312+73A= (n.3312+73A=) c.3249+73A= (n.3249+73A=) | |
11 | g.47333122G>C | CA2613393034 | MYBPC3 | c.3330+72C>G (n.3330+72C>G) c.3312+72C>G (n.3312+72C>G) c.3249+72C>G (n.3249+72C>G) | gnomAD v4 |
11 | g.47333122G>T | CA2613393035 | MYBPC3 | c.3330+72C>A (n.3330+72C>A) c.3312+72C>A (n.3312+72C>A) c.3249+72C>A (n.3249+72C>A) | gnomAD v4 |
11 | g.47333123A>G | CA2574815750 | MYBPC3 | c.3330+71T>C (n.3330+71T>C) c.3312+71T>C (n.3312+71T>C) c.3249+71T>C (n.3249+71T>C) | gnomAD v4 |
11 | g.47333124A= | CA1969334965 | MYBPC3 | c.3330+70T= (n.3330+70T=) c.3312+70T= (n.3312+70T=) c.3249+70T= (n.3249+70T=) | |
11 | g.47333124A>G | CA677014611 | MYBPC3 | c.3330+70T>C (n.3330+70T>C) c.3312+70T>C (n.3312+70T>C) c.3249+70T>C (n.3249+70T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333125G>A | CA2574815751 | MYBPC3 | c.3330+69C>T (n.3330+69C>T) c.3312+69C>T (n.3312+69C>T) c.3249+69C>T (n.3249+69C>T) | gnomAD v4 |
11 | g.47333125G>T | CA2613393036 | MYBPC3 | c.3330+69C>A (n.3330+69C>A) c.3312+69C>A (n.3312+69C>A) c.3249+69C>A (n.3249+69C>A) | gnomAD v4 |
11 | g.47333126G>A | CA2613393037 | MYBPC3 | c.3330+68C>T (n.3330+68C>T) c.3312+68C>T (n.3312+68C>T) c.3249+68C>T (n.3249+68C>T) | gnomAD v4 |
11 | g.47333126G>T | CA2613393038 | MYBPC3 | c.3330+68C>A (n.3330+68C>A) c.3312+68C>A (n.3312+68C>A) c.3249+68C>A (n.3249+68C>A) | gnomAD v4 |
11 | g.47333127G>A | CA2613393039 | MYBPC3 | c.3330+67C>T (n.3330+67C>T) c.3312+67C>T (n.3312+67C>T) c.3249+67C>T (n.3249+67C>T) | gnomAD v4 |
11 | g.47333127G>T | CA2613393040 | MYBPC3 | c.3330+67C>A (n.3330+67C>A) c.3312+67C>A (n.3312+67C>A) c.3249+67C>A (n.3249+67C>A) | gnomAD v4 |
11 | g.47333129A= | CA1969334969 | MYBPC3 | c.3330+65T= (n.3330+65T=) c.3312+65T= (n.3312+65T=) c.3249+65T= (n.3249+65T=) | |
11 | g.47333129A>G | CA599374323 | MYBPC3 | c.3330+65T>C (n.3330+65T>C) c.3312+65T>C (n.3312+65T>C) c.3249+65T>C (n.3249+65T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333130G>A | CA221682386 | MYBPC3 | c.3330+64C>T (n.3330+64C>T) c.3312+64C>T (n.3312+64C>T) c.3249+64C>T (n.3249+64C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333130G= | CA1969334971 | MYBPC3 | c.3330+64C= (n.3330+64C=) c.3312+64C= (n.3312+64C=) c.3249+64C= (n.3249+64C=) | |
11 | g.47333130G>T | CA2613393045 | MYBPC3 | c.3330+64C>A (n.3330+64C>A) c.3312+64C>A (n.3312+64C>A) c.3249+64C>A (n.3249+64C>A) | gnomAD v4 |
11 | g.47333131C>A | CA2613393047 | MYBPC3 | c.3330+63G>T (n.3330+63G>T) c.3312+63G>T (n.3312+63G>T) c.3249+63G>T (n.3249+63G>T) | gnomAD v4 |
11 | g.47333131C>T | CA2613393048 | MYBPC3 | c.3330+63G>A (n.3330+63G>A) c.3312+63G>A (n.3312+63G>A) c.3249+63G>A (n.3249+63G>A) | gnomAD v4 |
11 | g.47333132T>C | CA2613393049 | MYBPC3 | c.3330+62A>G (n.3330+62A>G) c.3312+62A>G (n.3312+62A>G) c.3249+62A>G (n.3249+62A>G) | gnomAD v4 |
11 | g.47333133G>A | CA599374324 | MYBPC3 | c.3330+61C>T (n.3330+61C>T) c.3312+61C>T (n.3312+61C>T) c.3249+61C>T (n.3249+61C>T) | gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333133G>T | CA2613393050 | MYBPC3 | c.3330+61C>A (n.3330+61C>A) c.3312+61C>A (n.3312+61C>A) c.3249+61C>A (n.3249+61C>A) | gnomAD v4 |
11 | g.47333134del | CA2613393052 | MYBPC3 | c.3330+60del (n.3330+60del) c.3312+60del (n.3312+60del) c.3249+60del (n.3249+60del) | gnomAD v4 |
11 | g.47333134C>A | CA2613393053 | MYBPC3 | c.3330+60G>T (n.3330+60G>T) c.3312+60G>T (n.3312+60G>T) c.3249+60G>T (n.3249+60G>T) | gnomAD v4 |
11 | g.47333134C= | CA1969334974 | MYBPC3 | c.3330+60G= (n.3330+60G=) c.3312+60G= (n.3312+60G=) c.3249+60G= (n.3249+60G=) | |
11 | g.47333134C>T | CA221682388 | MYBPC3 | c.3330+60G>A (n.3330+60G>A) c.3312+60G>A (n.3312+60G>A) c.3249+60G>A (n.3249+60G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333135G>A | CA221682391 | MYBPC3 | c.3330+59C>T (n.3330+59C>T) c.3312+59C>T (n.3312+59C>T) c.3249+59C>T (n.3249+59C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333135G>C | CA2613393054 | MYBPC3 | c.3330+59C>G (n.3330+59C>G) c.3312+59C>G (n.3312+59C>G) c.3249+59C>G (n.3249+59C>G) | gnomAD v4 |
11 | g.47333135G= | CA1969334977 | MYBPC3 | c.3330+59C= (n.3330+59C=) c.3312+59C= (n.3312+59C=) c.3249+59C= (n.3249+59C=) | |
11 | g.47333135G>T | CA2613393056 | MYBPC3 | c.3330+59C>A (n.3330+59C>A) c.3312+59C>A (n.3312+59C>A) c.3249+59C>A (n.3249+59C>A) | gnomAD v4 |
11 | g.47333136G>A | CA1969334982 | MYBPC3 | c.3330+58C>T (n.3330+58C>T) c.3312+58C>T (n.3312+58C>T) c.3249+58C>T (n.3249+58C>T) | dbSNP gnomAD v4 |
11 | g.47333136G= | CA1969334980 | MYBPC3 | c.3330+58C= (n.3330+58C=) c.3312+58C= (n.3312+58C=) c.3249+58C= (n.3249+58C=) | |
11 | g.47333136G>T | CA2613393057 | MYBPC3 | c.3330+58C>A (n.3330+58C>A) c.3312+58C>A (n.3312+58C>A) c.3249+58C>A (n.3249+58C>A) | gnomAD v4 |
11 | g.47333137C>A | CA2613393058 | MYBPC3 | c.3330+57G>T (n.3330+57G>T) c.3312+57G>T (n.3312+57G>T) c.3249+57G>T (n.3249+57G>T) | gnomAD v4 |
11 | g.47333137C= | CA1969334984 | MYBPC3 | c.3330+57G= (n.3330+57G=) c.3312+57G= (n.3312+57G=) c.3249+57G= (n.3249+57G=) | |
11 | g.47333137C>T | CA599374325 | MYBPC3 | c.3330+57G>A (n.3330+57G>A) c.3312+57G>A (n.3312+57G>A) c.3249+57G>A (n.3249+57G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333139T>A | CA2613393059 | MYBPC3 | c.3330+55A>T (n.3330+55A>T) c.3312+55A>T (n.3312+55A>T) c.3249+55A>T (n.3249+55A>T) | gnomAD v4 |
11 | g.47333139T>C | CA2613393060 | MYBPC3 | c.3330+55A>G (n.3330+55A>G) c.3312+55A>G (n.3312+55A>G) c.3249+55A>G (n.3249+55A>G) | gnomAD v4 |
11 | g.47333140G>A | CA677014625 | MYBPC3 | c.3330+54C>T (n.3330+54C>T) c.3312+54C>T (n.3312+54C>T) c.3249+54C>T (n.3249+54C>T) | dbSNP |
11 | g.47333140G>C | CA2613393061 | MYBPC3 | c.3330+54C>G (n.3330+54C>G) c.3312+54C>G (n.3312+54C>G) c.3249+54C>G (n.3249+54C>G) | gnomAD v4 |
11 | g.47333140G= | CA1969334987 | MYBPC3 | c.3330+54C= (n.3330+54C=) c.3312+54C= (n.3312+54C=) c.3249+54C= (n.3249+54C=) | |
11 | g.47333140G>T | CA2613393062 | MYBPC3 | c.3330+54C>A (n.3330+54C>A) c.3312+54C>A (n.3312+54C>A) c.3249+54C>A (n.3249+54C>A) | gnomAD v4 |
11 | g.47333141G>A | CA2613393064 | MYBPC3 | c.3330+53C>T (n.3330+53C>T) c.3312+53C>T (n.3312+53C>T) c.3249+53C>T (n.3249+53C>T) | gnomAD v4 |
11 | g.47333141G>C | CA2613393065 | MYBPC3 | c.3330+53C>G (n.3330+53C>G) c.3312+53C>G (n.3312+53C>G) c.3249+53C>G (n.3249+53C>G) | gnomAD v4 |
11 | g.47333141G>T | CA2613393066 | MYBPC3 | c.3330+53C>A (n.3330+53C>A) c.3312+53C>A (n.3312+53C>A) c.3249+53C>A (n.3249+53C>A) | gnomAD v4 |
11 | g.47333142G>A | CA2613393067 | MYBPC3 | c.3330+52C>T (n.3330+52C>T) c.3312+52C>T (n.3312+52C>T) c.3249+52C>T (n.3249+52C>T) | gnomAD v4 |
11 | g.47333142G= | CA1969334989 | MYBPC3 | c.3330+52C= (n.3330+52C=) c.3312+52C= (n.3312+52C=) c.3249+52C= (n.3249+52C=) | |
11 | g.47333142G>T | CA677014627 | MYBPC3 | c.3330+52C>A (n.3330+52C>A) c.3312+52C>A (n.3312+52C>A) c.3249+52C>A (n.3249+52C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333143T= | CA1969334991 | MYBPC3 | c.3330+51A= (n.3330+51A=) c.3312+51A= (n.3312+51A=) c.3249+51A= (n.3249+51A=) | |
11 | g.47333144C>A | CA2613393069 | MYBPC3 | c.3330+50G>T (n.3330+50G>T) c.3312+50G>T (n.3312+50G>T) c.3249+50G>T (n.3249+50G>T) | gnomAD v4 |
11 | g.47333144C>T | CA2613393070 | MYBPC3 | c.3330+50G>A (n.3330+50G>A) c.3312+50G>A (n.3312+50G>A) c.3249+50G>A (n.3249+50G>A) | gnomAD v4 |
11 | g.47333144_47333158dup | CA677014628 | MYBPC3 | c.3330+36_3330+50dup (n.3330+36_3330+50dup) c.3312+36_3312+50dup (n.3312+36_3312+50dup) c.3249+36_3249+50dup (n.3249+36_3249+50dup) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47333145T>C | CA2613393071 | MYBPC3 | c.3330+49A>G (n.3330+49A>G) c.3312+49A>G (n.3312+49A>G) c.3249+49A>G (n.3249+49A>G) | gnomAD v4 |
11 | g.47333146G>A | CA2613393072 | MYBPC3 | c.3330+48C>T (n.3330+48C>T) c.3312+48C>T (n.3312+48C>T) c.3249+48C>T (n.3249+48C>T) | gnomAD v4 |
11 | g.47333146G= | CA1969334994 | MYBPC3 | c.3330+48C= (n.3330+48C=) c.3312+48C= (n.3312+48C=) c.3249+48C= (n.3249+48C=) | |
11 | g.47333146G>T | CA599374326 | MYBPC3 | c.3330+48C>A (n.3330+48C>A) c.3312+48C>A (n.3312+48C>A) c.3249+48C>A (n.3249+48C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333147C>A | CA2613393075 | MYBPC3 | c.3330+47G>T (n.3330+47G>T) c.3312+47G>T (n.3312+47G>T) c.3249+47G>T (n.3249+47G>T) | gnomAD v4 |
11 | g.47333147C>T | CA2613393076 | MYBPC3 | c.3330+47G>A (n.3330+47G>A) c.3312+47G>A (n.3312+47G>A) c.3249+47G>A (n.3249+47G>A) | gnomAD v4 |
11 | g.47333148C>A | CA2613393078 | MYBPC3 | c.3330+46G>T (n.3330+46G>T) c.3312+46G>T (n.3312+46G>T) c.3249+46G>T (n.3249+46G>T) | dbSNP gnomAD v4 |
11 | g.47333148C= | CA1969334996 | MYBPC3 | c.3330+46G= (n.3330+46G=) c.3312+46G= (n.3312+46G=) c.3249+46G= (n.3249+46G=) | |
11 | g.47333148C>T | CA079308 | MYBPC3 | c.3330+46G>A (n.3330+46G>A) c.3312+46G>A (n.3312+46G>A) c.3249+46G>A (n.3249+46G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333149G>A | CA599374327 | MYBPC3 | c.3330+45C>T (n.3330+45C>T) c.3312+45C>T (n.3312+45C>T) c.3249+45C>T (n.3249+45C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333149G= | CA1969334999 | MYBPC3 | c.3330+45C= (n.3330+45C=) c.3312+45C= (n.3312+45C=) c.3249+45C= (n.3249+45C=) | |
11 | g.47333149G>T | CA079306 | MYBPC3 | c.3330+45C>A (n.3330+45C>A) c.3312+45C>A (n.3312+45C>A) c.3249+45C>A (n.3249+45C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333151del | CA2613393080 | MYBPC3 | c.3330+45del (n.3330+45del) c.3312+45del (n.3312+45del) c.3249+45del (n.3249+45del) | gnomAD v4 |
11 | g.47333150G>A | CA2613393083 | MYBPC3 | c.3330+44C>T (n.3330+44C>T) c.3312+44C>T (n.3312+44C>T) c.3249+44C>T (n.3249+44C>T) | gnomAD v4 |
11 | g.47333150G>T | CA2613393084 | MYBPC3 | c.3330+44C>A (n.3330+44C>A) c.3312+44C>A (n.3312+44C>A) c.3249+44C>A (n.3249+44C>A) | gnomAD v4 |
11 | g.47333151G>A | CA2613393086 | MYBPC3 | c.3330+43C>T (n.3330+43C>T) c.3312+43C>T (n.3312+43C>T) c.3249+43C>T (n.3249+43C>T) | gnomAD v4 |
11 | g.47333151G= | CA1969335002 | MYBPC3 | c.3330+43C= (n.3330+43C=) c.3312+43C= (n.3312+43C=) c.3249+43C= (n.3249+43C=) | |
11 | g.47333151G>T | CA1969335003 | MYBPC3 | c.3330+43C>A (n.3330+43C>A) c.3312+43C>A (n.3312+43C>A) c.3249+43C>A (n.3249+43C>A) | dbSNP gnomAD v4 |
11 | g.47333152C>A | CA2613393089 | MYBPC3 | c.3330+42G>T (n.3330+42G>T) c.3312+42G>T (n.3312+42G>T) c.3249+42G>T (n.3249+42G>T) | gnomAD v4 |
11 | g.47333153C>A | CA221682400 | MYBPC3 | c.3330+41G>T (n.3330+41G>T) c.3312+41G>T (n.3312+41G>T) c.3249+41G>T (n.3249+41G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333153C= | CA1969335009 | MYBPC3 | c.3330+41G= (n.3330+41G=) c.3312+41G= (n.3312+41G=) c.3249+41G= (n.3249+41G=) | |
11 | g.47333153C>G | CA2574815752 | MYBPC3 | c.3330+41G>C (n.3330+41G>C) c.3312+41G>C (n.3312+41G>C) c.3249+41G>C (n.3249+41G>C) | |
11 | g.47333153C>T | CA079304 | MYBPC3 | c.3330+41G>A (n.3330+41G>A) c.3312+41G>A (n.3312+41G>A) c.3249+41G>A (n.3249+41G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333154T>C | CA2613393092 | MYBPC3 | c.3330+40A>G (n.3330+40A>G) c.3312+40A>G (n.3312+40A>G) c.3249+40A>G (n.3249+40A>G) | gnomAD v4 |
11 | g.47333155A>G | CA2613393093 | MYBPC3 | c.3330+39T>C (n.3330+39T>C) c.3312+39T>C (n.3312+39T>C) c.3249+39T>C (n.3249+39T>C) | gnomAD v4 |
11 | g.47333156G>T | CA2613393094 | MYBPC3 | c.3330+38C>A (n.3330+38C>A) c.3312+38C>A (n.3312+38C>A) c.3249+38C>A (n.3249+38C>A) | gnomAD v4 |
11 | g.47333157G>A | CA2613393095 | MYBPC3 | c.3330+37C>T (n.3330+37C>T) c.3312+37C>T (n.3312+37C>T) c.3249+37C>T (n.3249+37C>T) | gnomAD v4 |
11 | g.47333157G>T | CA2613393096 | MYBPC3 | c.3330+37C>A (n.3330+37C>A) c.3312+37C>A (n.3312+37C>A) c.3249+37C>A (n.3249+37C>A) | gnomAD v4 |
11 | g.47333158C>A | CA2613393098 | MYBPC3 | c.3330+36G>T (n.3330+36G>T) c.3312+36G>T (n.3312+36G>T) c.3249+36G>T (n.3249+36G>T) | gnomAD v4 |
11 | g.47333158C>T | CA2613393099 | MYBPC3 | c.3330+36G>A (n.3330+36G>A) c.3312+36G>A (n.3312+36G>A) c.3249+36G>A (n.3249+36G>A) | gnomAD v4 |
11 | g.47333159A>C | CA2613393101 | MYBPC3 | c.3330+35T>G (n.3330+35T>G) c.3312+35T>G (n.3312+35T>G) c.3249+35T>G (n.3249+35T>G) | gnomAD v4 |
11 | g.47333160G>A | CA599374328 | MYBPC3 | c.3330+34C>T (n.3330+34C>T) c.3312+34C>T (n.3312+34C>T) c.3249+34C>T (n.3249+34C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333160G>C | CA079302 | MYBPC3 | c.3330+34C>G (n.3330+34C>G) c.3312+34C>G (n.3312+34C>G) c.3249+34C>G (n.3249+34C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333160G= | CA1969335012 | MYBPC3 | c.3330+34C= (n.3330+34C=) c.3312+34C= (n.3312+34C=) c.3249+34C= (n.3249+34C=) | |
11 | g.47333160G>T | CA2613393110 | MYBPC3 | c.3330+34C>A (n.3330+34C>A) c.3312+34C>A (n.3312+34C>A) c.3249+34C>A (n.3249+34C>A) | gnomAD v4 |
11 | g.47333162del | CA2613393108 | MYBPC3 | c.3330+34del (n.3330+34del) c.3312+34del (n.3312+34del) c.3249+34del (n.3249+34del) | gnomAD v4 |
11 | g.47333161G>A | CA599374329 | MYBPC3 | c.3330+33C>T (n.3330+33C>T) c.3312+33C>T (n.3312+33C>T) c.3249+33C>T (n.3249+33C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333161G= | CA1969335014 | MYBPC3 | c.3330+33C= (n.3330+33C=) c.3312+33C= (n.3312+33C=) c.3249+33C= (n.3249+33C=) | |
11 | g.47333161G>T | CA2613393112 | MYBPC3 | c.3330+33C>A (n.3330+33C>A) c.3312+33C>A (n.3312+33C>A) c.3249+33C>A (n.3249+33C>A) | gnomAD v4 |
11 | g.47333162G>A | CA599374330 | MYBPC3 | c.3330+32C>T (n.3330+32C>T) c.3312+32C>T (n.3312+32C>T) c.3249+32C>T (n.3249+32C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333162G= | CA1969335016 | MYBPC3 | c.3330+32C= (n.3330+32C=) c.3312+32C= (n.3312+32C=) c.3249+32C= (n.3249+32C=) | |
11 | g.47333162G>T | CA2613393113 | MYBPC3 | c.3330+32C>A (n.3330+32C>A) c.3312+32C>A (n.3312+32C>A) c.3249+32C>A (n.3249+32C>A) | gnomAD v4 |
11 | g.47333163T>C | CA2613393114 | MYBPC3 | c.3330+31A>G (n.3330+31A>G) c.3312+31A>G (n.3312+31A>G) c.3249+31A>G (n.3249+31A>G) | gnomAD v4 |
11 | g.47333163T>G | CA599374331 | MYBPC3 | c.3330+31A>C (n.3330+31A>C) c.3312+31A>C (n.3312+31A>C) c.3249+31A>C (n.3249+31A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333163T= | CA1969335018 | MYBPC3 | c.3330+31A= (n.3330+31A=) c.3312+31A= (n.3312+31A=) c.3249+31A= (n.3249+31A=) | |
11 | g.47333164G>A | CA2574815753 | MYBPC3 | c.3330+30C>T (n.3330+30C>T) c.3312+30C>T (n.3312+30C>T) c.3249+30C>T (n.3249+30C>T) | gnomAD v4 |
11 | g.47333164G>T | CA2613393116 | MYBPC3 | c.3330+30C>A (n.3330+30C>A) c.3312+30C>A (n.3312+30C>A) c.3249+30C>A (n.3249+30C>A) | gnomAD v4 |
11 | g.47333165C>A | CA2613393117 | MYBPC3 | c.3330+29G>T (n.3330+29G>T) c.3312+29G>T (n.3312+29G>T) c.3249+29G>T (n.3249+29G>T) | gnomAD v4 |
11 | g.47333165C>T | CA2613393118 | MYBPC3 | c.3330+29G>A (n.3330+29G>A) c.3312+29G>A (n.3312+29G>A) c.3249+29G>A (n.3249+29G>A) | gnomAD v4 |
11 | g.47333166A= | CA1969335020 | MYBPC3 | c.3330+28T= (n.3330+28T=) c.3312+28T= (n.3312+28T=) c.3249+28T= (n.3249+28T=) | |
11 | g.47333166A>C | CA2613393119 | MYBPC3 | c.3330+28T>G (n.3330+28T>G) c.3312+28T>G (n.3312+28T>G) c.3249+28T>G (n.3249+28T>G) | gnomAD v4 |
11 | g.47333166A>G | CA1969335021 | MYBPC3 | c.3330+28T>C (n.3330+28T>C) c.3312+28T>C (n.3312+28T>C) c.3249+28T>C (n.3249+28T>C) | dbSNP |
11 | g.47333167C>A | CA2613393120 | MYBPC3 | c.3330+27G>T (n.3330+27G>T) c.3312+27G>T (n.3312+27G>T) c.3249+27G>T (n.3249+27G>T) | gnomAD v4 |
11 | g.47333167C= | CA1969335025 | MYBPC3 | c.3330+27G= (n.3330+27G=) c.3312+27G= (n.3312+27G=) c.3249+27G= (n.3249+27G=) | |
11 | g.47333167C>T | CA474212112 | MYBPC3 | c.3330+27G>A (n.3330+27G>A) c.3312+27G>A (n.3312+27G>A) c.3249+27G>A (n.3249+27G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333168del | CA2613393121 | MYBPC3 | c.3330+26del (n.3330+26del) c.3312+26del (n.3312+26del) c.3249+26del (n.3249+26del) | gnomAD v4 |
11 | g.47333168G>A | CA079299 | MYBPC3 | c.3330+26C>T (n.3330+26C>T) c.3312+26C>T (n.3312+26C>T) c.3249+26C>T (n.3249+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333168G= | CA1969335026 | MYBPC3 | c.3330+26C= (n.3330+26C=) c.3312+26C= (n.3312+26C=) c.3249+26C= (n.3249+26C=) | |
11 | g.47333168G>T | CA2613393122 | MYBPC3 | c.3330+26C>A (n.3330+26C>A) c.3312+26C>A (n.3312+26C>A) c.3249+26C>A (n.3249+26C>A) | gnomAD v4 |
11 | g.47333169T>C | CA599374332 | MYBPC3 | c.3330+25A>G (n.3330+25A>G) c.3312+25A>G (n.3312+25A>G) c.3249+25A>G (n.3249+25A>G) | gnomAD v2 |
11 | g.47333169_47333170delinsTG | CA1969335029 | MYBPC3 | c.3330+24_3330+25delinsCA (n.3330+24_3330+25delinsCA) c.3312+24_3312+25delinsCA (n.3312+24_3312+25delinsCA) c.3249+24_3249+25delinsCA (n.3249+24_3249+25delinsCA) | |
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.47333170G>A | CA079295 | MYBPC3 | c.3330+24C>T (n.3330+24C>T) c.3312+24C>T (n.3312+24C>T) c.3249+24C>T (n.3249+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333170G= | CA1969335032 | MYBPC3 | c.3330+24C= (n.3330+24C=) c.3312+24C= (n.3312+24C=) c.3249+24C= (n.3249+24C=) | |
11 | g.47333170G>T | CA2613393126 | MYBPC3 | c.3330+24C>A (n.3330+24C>A) c.3312+24C>A (n.3312+24C>A) c.3249+24C>A (n.3249+24C>A) | gnomAD v4 |
11 | g.47333173dup | CA1969335031 | MYBPC3 | c.3330+24dup (n.3330+24dup) c.3312+24dup (n.3312+24dup) c.3249+24dup (n.3249+24dup) | dbSNP gnomAD v4 |
11 | g.47333173del | CA053499 | MYBPC3 | c.3330+24del (n.3330+24del) c.3312+24del (n.3312+24del) c.3249+24del (n.3249+24del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333171G>A | CA053507 | MYBPC3 | c.3330+23C>T (n.3330+23C>T) c.3312+23C>T (n.3312+23C>T) c.3249+23C>T (n.3249+23C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333171G= | CA1969335037 | MYBPC3 | c.3330+23C= (n.3330+23C=) c.3312+23C= (n.3312+23C=) c.3249+23C= (n.3249+23C=) | |
11 | g.47333171G>T | CA2613393127 | MYBPC3 | c.3330+23C>A (n.3330+23C>A) c.3312+23C>A (n.3312+23C>A) c.3249+23C>A (n.3249+23C>A) | gnomAD v4 |
11 | g.47333172G>A | CA654413167 | MYBPC3 | c.3330+22C>T (n.3330+22C>T) c.3312+22C>T (n.3312+22C>T) c.3249+22C>T (n.3249+22C>T) | gnomAD v4 COSMIC |
11 | g.47333172G>T | CA2613393128 | MYBPC3 | c.3330+22C>A (n.3330+22C>A) c.3312+22C>A (n.3312+22C>A) c.3249+22C>A (n.3249+22C>A) | gnomAD v4 |
11 | g.47333173G>A | CA053490 | MYBPC3 | c.3330+21C>T (n.3330+21C>T) c.3312+21C>T (n.3312+21C>T) c.3249+21C>T (n.3249+21C>T) | gnomAD v4 COSMIC |
11 | g.47333173G>T | CA2613393129 | MYBPC3 | c.3330+21C>A (n.3330+21C>A) c.3312+21C>A (n.3312+21C>A) c.3249+21C>A (n.3249+21C>A) | gnomAD v4 |
11 | g.47333174A= | CA1969335039 | MYBPC3 | c.3330+20T= (n.3330+20T=) c.3312+20T= (n.3312+20T=) c.3249+20T= (n.3249+20T=) | |
11 | g.47333174A>C | CA2613393130 | MYBPC3 | c.3330+20T>G (n.3330+20T>G) c.3312+20T>G (n.3312+20T>G) c.3249+20T>G (n.3249+20T>G) | gnomAD v4 |
11 | g.47333174A>G | CA599374333 | MYBPC3 | c.3330+20T>C (n.3330+20T>C) c.3312+20T>C (n.3312+20T>C) c.3249+20T>C (n.3249+20T>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333174_47333175delinsAC | CA1969335041 | MYBPC3 | c.3330+19_3330+20delinsGT (n.3330+19_3330+20delinsGT) c.3312+19_3312+20delinsGT (n.3312+19_3312+20delinsGT) c.3249+19_3249+20delinsGT (n.3249+19_3249+20delinsGT) | |
11 | g.47333175C>A | CA2573146362 | MYBPC3 | c.3330+19G>T (n.3330+19G>T) c.3312+19G>T (n.3312+19G>T) c.3249+19G>T (n.3249+19G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47333175C= | CA1969335044 | MYBPC3 | c.3330+19G= (n.3330+19G=) c.3312+19G= (n.3312+19G=) c.3249+19G= (n.3249+19G=) | |
11 | g.47333175C>T | CA599374334 | MYBPC3 | c.3330+19G>A (n.3330+19G>A) c.3312+19G>A (n.3312+19G>A) c.3249+19G>A (n.3249+19G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47333178del | CA1969335045 | MYBPC3 | c.3330+19del (n.3330+19del) c.3312+19del (n.3312+19del) c.3249+19del (n.3249+19del) | dbSNP gnomAD v4 |
11 | g.47333176C>A | CA2613393132 | MYBPC3 | c.3330+18G>T (n.3330+18G>T) c.3312+18G>T (n.3312+18G>T) c.3249+18G>T (n.3249+18G>T) | gnomAD v4 |
11 | g.47333176C>T | CA2574815754 | MYBPC3 | c.3330+18G>A (n.3330+18G>A) c.3312+18G>A (n.3312+18G>A) c.3249+18G>A (n.3249+18G>A) | gnomAD v4 |
11 | g.47333177C>A | CA2574815755 | MYBPC3 | c.3330+17G>T (n.3330+17G>T) c.3312+17G>T (n.3312+17G>T) c.3249+17G>T (n.3249+17G>T) | gnomAD v4 |
11 | g.47333177C>T | CA2613393134 | MYBPC3 | c.3330+17G>A (n.3330+17G>A) c.3312+17G>A (n.3312+17G>A) c.3249+17G>A (n.3249+17G>A) | gnomAD v4 |
11 | g.47333178C>A | CA2613393136 | MYBPC3 | c.3330+16G>T (n.3330+16G>T) c.3312+16G>T (n.3312+16G>T) c.3249+16G>T (n.3249+16G>T) | gnomAD v4 |
11 | g.47333179A>C | CA2613393138 | MYBPC3 | c.3330+15T>G (n.3330+15T>G) c.3312+15T>G (n.3312+15T>G) c.3249+15T>G (n.3249+15T>G) | gnomAD v4 |
11 | g.47333179A>G | CA2613393139 | MYBPC3 | c.3330+15T>C (n.3330+15T>C) c.3312+15T>C (n.3312+15T>C) c.3249+15T>C (n.3249+15T>C) | 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 |