Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47341257_47344691del | CA913203384 | MYBPC3 | c.1091-1066_1791-12del c.1073-1066_1773-12del | |
11 | g.47343254_47343582delinsT | CA2573147072 | MYBPC3 | c.1133_1226+6delinsA c.1133_1224-106delinsA c.1115_1208+6delinsA | ClinVar dbSNP |
11 | g.47343448del | CA2613406286 | MYBPC3 | c.1223+48del (n.1223+48del) c.1205+48del (n.1205+48del) | gnomAD v4 |
11 | g.47343446G>A | CA2613406296 | MYBPC3 | c.1223+46C>T (n.1223+46C>T) c.1205+46C>T (n.1205+46C>T) | gnomAD v4 |
11 | g.47343446G>T | CA2613406317 | MYBPC3 | c.1223+46C>A (n.1223+46C>A) c.1205+46C>A (n.1205+46C>A) | gnomAD v4 |
11 | g.47343447G>A | CA599059002 | MYBPC3 | c.1223+45C>T (n.1223+45C>T) c.1205+45C>T (n.1205+45C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343447G= | CA1969337073 | MYBPC3 | c.1223+45C= (n.1223+45C=) c.1205+45C= (n.1205+45C=) | |
11 | g.47343447G>T | CA043285 | MYBPC3 | c.1223+45C>A (n.1223+45C>A) c.1205+45C>A (n.1205+45C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343448G>A | CA2613406322 | MYBPC3 | c.1223+44C>T (n.1223+44C>T) c.1205+44C>T (n.1205+44C>T) | gnomAD v4 |
11 | g.47343448G>T | CA2613406326 | MYBPC3 | c.1223+44C>A (n.1223+44C>A) c.1205+44C>A (n.1205+44C>A) | gnomAD v4 |
11 | g.47343449del | CA2613406330 | MYBPC3 | c.1223+43del (n.1223+43del) c.1205+43del (n.1205+43del) | gnomAD v4 |
11 | g.47343449T>C | CA677001455 | MYBPC3 | c.1223+43A>G (n.1223+43A>G) c.1205+43A>G (n.1205+43A>G) | dbSNP gnomAD v4 |
11 | g.47343449T>G | CA2791322983 | MYBPC3 | c.1223+43A>C (n.1223+43A>C) c.1205+43A>C (n.1205+43A>C) | |
11 | g.47343449T= | CA1969337075 | MYBPC3 | c.1223+43A= (n.1223+43A=) c.1205+43A= (n.1205+43A=) | |
11 | g.47343449_47343450delinsTC | CA1969337074 | MYBPC3 | c.1223+42_1223+43delinsGA (n.1223+42_1223+43delinsGA) c.1205+42_1205+43delinsGA (n.1205+42_1205+43delinsGA) | |
11 | g.47343450C>A | CA599059003 | MYBPC3 | c.1223+42G>T (n.1223+42G>T) c.1205+42G>T (n.1205+42G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343450C= | CA1969337077 | MYBPC3 | c.1223+42G= (n.1223+42G=) c.1205+42G= (n.1205+42G=) | |
11 | g.47343450C>T | CA2613406337 | MYBPC3 | c.1223+42G>A (n.1223+42G>A) c.1205+42G>A (n.1205+42G>A) | gnomAD v4 |
11 | g.47343451_47343453dup | CA2791322984 | MYBPC3 | c.1223+40_1223+42dup (n.1223+40_1223+42dup) c.1205+40_1205+42dup (n.1205+40_1205+42dup) | |
11 | g.47343453del | CA1969337076 | MYBPC3 | c.1223+42del (n.1223+42del) c.1205+42del (n.1205+42del) | dbSNP gnomAD v4 |
11 | g.47343451C>A | CA2613406341 | MYBPC3 | c.1223+41G>T (n.1223+41G>T) c.1205+41G>T (n.1205+41G>T) | gnomAD v4 |
11 | g.47343451C>T | CA2613406342 | MYBPC3 | c.1223+41G>A (n.1223+41G>A) c.1205+41G>A (n.1205+41G>A) | gnomAD v4 |
11 | g.47343452C>A | CA2613406345 | MYBPC3 | c.1223+40G>T (n.1223+40G>T) c.1205+40G>T (n.1205+40G>T) | gnomAD v4 |
11 | g.47343452C= | CA1969337078 | MYBPC3 | c.1223+40G= (n.1223+40G=) c.1205+40G= (n.1205+40G=) | |
11 | g.47343452C>G | CA1969337079 | MYBPC3 | c.1223+40G>C (n.1223+40G>C) c.1205+40G>C (n.1205+40G>C) | dbSNP |
11 | g.47343452C>T | CA2613406346 | MYBPC3 | c.1223+40G>A (n.1223+40G>A) c.1205+40G>A (n.1205+40G>A) | gnomAD v4 |
11 | g.47343453C>A | CA2613406353 | MYBPC3 | c.1223+39G>T (n.1223+39G>T) c.1205+39G>T (n.1205+39G>T) | gnomAD v4 |
11 | g.47343453C= | CA1969337080 | MYBPC3 | c.1223+39G= (n.1223+39G=) c.1205+39G= (n.1205+39G=) | |
11 | g.47343453C>T | CA599059004 | MYBPC3 | c.1223+39G>A (n.1223+39G>A) c.1205+39G>A (n.1205+39G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.47343454del | CA937656008 | MYBPC3 | c.1223+38del (n.1223+38del) c.1205+38del (n.1205+38del) | gnomAD v3 gnomAD v4 |
11 | g.47343454A= | CA1969337081 | MYBPC3 | c.1223+38T= (n.1223+38T=) c.1205+38T= (n.1205+38T=) | |
11 | g.47343454A>C | CA221697406 | MYBPC3 | c.1223+38T>G (n.1223+38T>G) c.1205+38T>G (n.1205+38T>G) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.47343454A>G | CA2613406362 | MYBPC3 | c.1223+38T>C (n.1223+38T>C) c.1205+38T>C (n.1205+38T>C) | gnomAD v4 |
11 | g.47343455C>A | CA221697418 | MYBPC3 | c.1223+37G>T (n.1223+37G>T) c.1205+37G>T (n.1205+37G>T) | dbSNP gnomAD v4 |
11 | g.47343455C= | CA1969337082 | MYBPC3 | c.1223+37G= (n.1223+37G=) c.1205+37G= (n.1205+37G=) | |
11 | g.47343457_47343459del | CA2613406367 | MYBPC3 | c.1223+35_1223+37del (n.1223+35_1223+37del) c.1205+35_1205+37del (n.1205+35_1205+37del) | gnomAD v4 |
11 | g.47343456C>A | CA2574816218 | MYBPC3 | c.1223+36G>T (n.1223+36G>T) c.1205+36G>T (n.1205+36G>T) | gnomAD v4 |
11 | g.47343456C= | CA1969337084 | MYBPC3 | c.1223+36G= (n.1223+36G=) c.1205+36G= (n.1205+36G=) | |
11 | g.47343456C>T | CA677001473 | MYBPC3 | c.1223+36G>A (n.1223+36G>A) c.1205+36G>A (n.1205+36G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343457_47343458del | CA937656012 | MYBPC3 | c.1223+35_1223+36del (n.1223+35_1223+36del) c.1205+35_1205+36del (n.1205+35_1205+36del) | gnomAD v3 gnomAD v4 |
11 | g.47343457T>A | CA937656015 | MYBPC3 | c.1223+35A>T (n.1223+35A>T) c.1205+35A>T (n.1205+35A>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343457T>C | CA221697428 | MYBPC3 | c.1223+35A>G (n.1223+35A>G) c.1205+35A>G (n.1205+35A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343457T>G | CA2613406376 | MYBPC3 | c.1223+35A>C (n.1223+35A>C) c.1205+35A>C (n.1205+35A>C) | gnomAD v4 |
11 | g.47343457T= | CA1969337085 | MYBPC3 | c.1223+35A= (n.1223+35A=) c.1205+35A= (n.1205+35A=) | |
11 | g.47343458C>A | CA2613406379 | MYBPC3 | c.1223+34G>T (n.1223+34G>T) c.1205+34G>T (n.1205+34G>T) | gnomAD v4 |
11 | g.47343458C= | CA1969337086 | MYBPC3 | c.1223+34G= (n.1223+34G=) c.1205+34G= (n.1205+34G=) | |
11 | g.47343458C>G | CA599059005 | MYBPC3 | c.1223+34G>C (n.1223+34G>C) c.1205+34G>C (n.1205+34G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343458C>T | CA2613406382 | MYBPC3 | c.1223+34G>A (n.1223+34G>A) c.1205+34G>A (n.1205+34G>A) | gnomAD v4 |
11 | g.47343459C>A | CA2613406386 | MYBPC3 | c.1223+33G>T (n.1223+33G>T) c.1205+33G>T (n.1205+33G>T) | gnomAD v4 |
11 | g.47343459C>T | CA2613406388 | MYBPC3 | c.1223+33G>A (n.1223+33G>A) c.1205+33G>A (n.1205+33G>A) | gnomAD v4 |
11 | g.47343460A>C | CA937656018 | MYBPC3 | c.1223+32T>G (n.1223+32T>G) c.1205+32T>G (n.1205+32T>G) | gnomAD v3 gnomAD v4 |
11 | g.47343461C>A | CA2613406430 | MYBPC3 | c.1223+31G>T (n.1223+31G>T) c.1205+31G>T (n.1205+31G>T) | gnomAD v4 |
11 | g.47343461C>T | CA2613406394 | MYBPC3 | c.1223+31G>A (n.1223+31G>A) c.1205+31G>A (n.1205+31G>A) | gnomAD v4 |
11 | g.47343463del | CA2613406389 | MYBPC3 | c.1223+31del (n.1223+31del) c.1205+31del (n.1205+31del) | gnomAD v4 |
11 | g.47343462C>A | CA043271 | MYBPC3 | c.1223+30G>T (n.1223+30G>T) c.1205+30G>T (n.1205+30G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343462C= | CA1969337088 | MYBPC3 | c.1223+30G= (n.1223+30G=) c.1205+30G= (n.1205+30G=) | |
11 | g.47343463C>A | CA599059006 | MYBPC3 | c.1223+29G>T (n.1223+29G>T) c.1205+29G>T (n.1205+29G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343463C= | CA1630848691 | MYBPC3 | c.1223+29G= (n.1223+29G=) c.1205+29G= (n.1205+29G=) | |
11 | g.47343463C>G | CA2580599952 | MYBPC3 | c.1223+29G>C (n.1223+29G>C) c.1205+29G>C (n.1205+29G>C) | |
11 | g.47343463C>T | CA009901 | MYBPC3 | c.1223+29G>A (n.1223+29G>A) c.1205+29G>A (n.1205+29G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343464_47343467del | CA2596115429 | MYBPC3 | c.1223+26_1223+29del (n.1223+26_1223+29del) c.1205+26_1205+29del (n.1205+26_1205+29del) | gnomAD v3 gnomAD v4 |
11 | g.47343464G>A | CA043233 | MYBPC3 | c.1223+28C>T (n.1223+28C>T) c.1205+28C>T (n.1205+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343464G>C | CA937656028 | MYBPC3 | c.1223+28C>G (n.1223+28C>G) c.1205+28C>G (n.1205+28C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343464G= | CA1969337090 | MYBPC3 | c.1223+28C= (n.1223+28C=) c.1205+28C= (n.1205+28C=) | |
11 | g.47343464G>T | CA599059007 | MYBPC3 | c.1223+28C>A (n.1223+28C>A) c.1205+28C>A (n.1205+28C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343464_47343466del | CA2613406449 | MYBPC3 | c.1223+26_1223+28del (n.1223+26_1223+28del) c.1205+26_1205+28del (n.1205+26_1205+28del) | gnomAD v4 |
11 | g.47343465A= | CA1969337092 | MYBPC3 | c.1223+27T= (n.1223+27T=) c.1205+27T= (n.1205+27T=) | |
11 | g.47343465A>C | CA2574816219 | MYBPC3 | c.1223+27T>G (n.1223+27T>G) c.1205+27T>G (n.1205+27T>G) | gnomAD v4 |
11 | g.47343465A>G | CA1969337093 | MYBPC3 | c.1223+27T>C (n.1223+27T>C) c.1205+27T>C (n.1205+27T>C) | dbSNP gnomAD v4 |
11 | g.47343466G>A | CA2613406484 | MYBPC3 | c.1223+26C>T (n.1223+26C>T) c.1205+26C>T (n.1205+26C>T) | gnomAD v4 |
11 | g.47343466G>T | CA2613406487 | MYBPC3 | c.1223+26C>A (n.1223+26C>A) c.1205+26C>A (n.1205+26C>A) | gnomAD v4 |
11 | g.47343466_47343467delinsGC | CA1969337094 | MYBPC3 | c.1223+25_1223+26delinsGC (n.1223+25_1223+26delinsGC) c.1205+25_1205+26delinsGC (n.1205+25_1205+26delinsGC) | |
11 | g.47343467C>A | CA2613406551 | MYBPC3 | c.1223+25G>T (n.1223+25G>T) c.1205+25G>T (n.1205+25G>T) | gnomAD v4 |
11 | g.47343467C= | CA1969337096 | MYBPC3 | c.1223+25G= (n.1223+25G=) c.1205+25G= (n.1205+25G=) | |
11 | g.47343467C>G | CA599059009 | MYBPC3 | c.1223+25G>C (n.1223+25G>C) c.1205+25G>C (n.1205+25G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343467C>T | CA2613406540 | MYBPC3 | c.1223+25G>A (n.1223+25G>A) c.1205+25G>A (n.1205+25G>A) | gnomAD v4 |
11 | g.47343472dup | CA2613406517 | MYBPC3 | c.1223+25dup (n.1223+25dup) c.1205+25dup (n.1205+25dup) | gnomAD v4 |
11 | g.47343468_47343472dup | CA2613406549 | MYBPC3 | c.1223+21_1223+25dup (n.1223+21_1223+25dup) c.1205+21_1205+25dup (n.1205+21_1205+25dup) | gnomAD v4 |
11 | g.47343472del | CA599059008 | MYBPC3 | c.1223+25del (n.1223+25del) c.1205+25del (n.1205+25del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343468C= | CA1969337097 | MYBPC3 | c.1223+24G= (n.1223+24G=) c.1205+24G= (n.1205+24G=) | |
11 | g.47343468C>T | CA677001493 | MYBPC3 | c.1223+24G>A (n.1223+24G>A) c.1205+24G>A (n.1205+24G>A) | dbSNP gnomAD v4 |
11 | g.47343469C>A | CA2613406564 | MYBPC3 | c.1223+23G>T (n.1223+23G>T) c.1205+23G>T (n.1205+23G>T) | gnomAD v4 |
11 | g.47343469C= | CA1969337098 | MYBPC3 | c.1223+23G= (n.1223+23G=) c.1205+23G= (n.1205+23G=) | |
11 | g.47343469C>T | CA043224 | MYBPC3 | c.1223+23G>A (n.1223+23G>A) c.1205+23G>A (n.1205+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343473_47343477del | CA2613406561 | MYBPC3 | c.1223+19_1223+23del (n.1223+19_1223+23del) c.1205+19_1205+23del (n.1205+19_1205+23del) | gnomAD v4 |
11 | g.47343470C= | CA1969337100 | MYBPC3 | c.1223+22G= (n.1223+22G=) c.1205+22G= (n.1205+22G=) | |
11 | g.47343470C>G | CA599059010 | MYBPC3 | c.1223+22G>C (n.1223+22G>C) c.1205+22G>C (n.1205+22G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343470C>T | CA1969337101 | MYBPC3 | c.1223+22G>A (n.1223+22G>A) c.1205+22G>A (n.1205+22G>A) | dbSNP gnomAD v4 |
11 | g.47343472_47343473insCCCCCCCCCCCCGCAGGACCC | CA2613406569 | MYBPC3 | c.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG (n.1223+22_1223+23insTCCTGCGGGGGGGGGGGGGGG) c.1205+22_1205+23insTCCTGCGGGGGGGGGGGGGGG (n.1205+22_1205+23insTCCTGCGGGGGGGGGGGGGGG) | gnomAD v4 |
11 | g.47343471C>A | CA043213 | MYBPC3 | c.1223+21G>T (n.1223+21G>T) c.1205+21G>T (n.1205+21G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343471C= | CA1969337102 | MYBPC3 | c.1223+21G= (n.1223+21G=) c.1205+21G= (n.1205+21G=) | |
11 | g.47343471C>G | CA043202 | MYBPC3 | c.1223+21G>C (n.1223+21G>C) c.1205+21G>C (n.1205+21G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343471C>T | CA599059011 | MYBPC3 | c.1223+21G>A (n.1223+21G>A) c.1205+21G>A (n.1205+21G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343472_47343473insACC | CA2741170216 | MYBPC3 | c.1223+21_1223+22insTGG (n.1223+21_1223+22insTGG) c.1205+21_1205+22insTGG (n.1205+21_1205+22insTGG) | |
11 | g.47343472C>A | CA2613406585 | MYBPC3 | c.1223+20G>T (n.1223+20G>T) c.1205+20G>T (n.1205+20G>T) | gnomAD v4 |
11 | g.47343472C>T | CA2613406587 | MYBPC3 | c.1223+20G>A (n.1223+20G>A) c.1205+20G>A (n.1205+20G>A) | gnomAD v4 |
11 | g.47343473del | CA2613406619 | MYBPC3 | c.1223+19del (n.1223+19del) c.1205+19del (n.1205+19del) | gnomAD v4 |
11 | g.47343473T>A | CA937656037 | MYBPC3 | c.1223+19A>T (n.1223+19A>T) c.1205+19A>T (n.1205+19A>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343473T>C | CA221697464 | MYBPC3 | c.1223+19A>G (n.1223+19A>G) c.1205+19A>G (n.1205+19A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343473T>G | CA2613406622 | MYBPC3 | c.1223+19A>C (n.1223+19A>C) c.1205+19A>C (n.1205+19A>C) | gnomAD v4 |
11 | g.47343473T= | CA1969337104 | MYBPC3 | c.1223+19A= (n.1223+19A=) c.1205+19A= (n.1205+19A=) | |
11 | g.47343474C>A | CA2613406631 | MYBPC3 | c.1223+18G>T (n.1223+18G>T) c.1205+18G>T (n.1205+18G>T) | gnomAD v4 |
11 | g.47343474C= | CA1969337106 | MYBPC3 | c.1223+18G= (n.1223+18G=) c.1205+18G= (n.1205+18G=) | |
11 | g.47343474C>G | CA599059012 | MYBPC3 | c.1223+18G>C (n.1223+18G>C) c.1205+18G>C (n.1205+18G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343477del | CA2613406625 | MYBPC3 | c.1223+18del (n.1223+18del) c.1205+18del (n.1205+18del) | gnomAD v4 |
11 | g.47343475C>A | CA2613406638 | MYBPC3 | c.1223+17G>T (n.1223+17G>T) c.1205+17G>T (n.1205+17G>T) | gnomAD v4 |
11 | g.47343475C= | CA1969337107 | MYBPC3 | c.1223+17G= (n.1223+17G=) c.1205+17G= (n.1205+17G=) | |
11 | g.47343475C>G | CA677001502 | MYBPC3 | c.1223+17G>C (n.1223+17G>C) c.1205+17G>C (n.1205+17G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343475C>T | CA2613406644 | MYBPC3 | c.1223+17G>A (n.1223+17G>A) c.1205+17G>A (n.1205+17G>A) | gnomAD v4 |
11 | g.47343476C>A | CA2613406693 | MYBPC3 | c.1223+16G>T (n.1223+16G>T) c.1205+16G>T (n.1205+16G>T) | gnomAD v4 |
11 | g.47343476C>G | CA2613406652 | MYBPC3 | c.1223+16G>C (n.1223+16G>C) c.1205+16G>C (n.1205+16G>C) | gnomAD v4 |
11 | g.47343476C>T | CA2613406649 | MYBPC3 | c.1223+16G>A (n.1223+16G>A) c.1205+16G>A (n.1205+16G>A) | gnomAD v4 |
11 | g.47343477C>A | CA2613406701 | MYBPC3 | c.1223+15G>T (n.1223+15G>T) c.1205+15G>T (n.1205+15G>T) | gnomAD v4 |
11 | g.47343477C= | CA1969337109 | MYBPC3 | c.1223+15G= (n.1223+15G=) c.1205+15G= (n.1205+15G=) | |
11 | g.47343477C>T | CA221697477 | MYBPC3 | c.1223+15G>A (n.1223+15G>A) c.1205+15G>A (n.1205+15G>A) | dbSNP gnomAD v4 |
11 | g.47343478A= | CA1969337111 | MYBPC3 | c.1223+14T= (n.1223+14T=) c.1205+14T= (n.1205+14T=) | |
11 | g.47343478A>C | CA009891 | MYBPC3 | c.1223+14T>G (n.1223+14T>G) c.1205+14T>G (n.1205+14T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343478A>G | CA2613406706 | MYBPC3 | c.1223+14T>C (n.1223+14T>C) c.1205+14T>C (n.1205+14T>C) | gnomAD v4 |
11 | g.47343479C>A | CA2613406712 | MYBPC3 | c.1223+13G>T (n.1223+13G>T) c.1205+13G>T (n.1205+13G>T) | gnomAD v4 |
11 | g.47343479C>G | CA2613406713 | MYBPC3 | c.1223+13G>C (n.1223+13G>C) c.1205+13G>C (n.1205+13G>C) | gnomAD v4 |
11 | g.47343479C>T | CA2613406715 | MYBPC3 | c.1223+13G>A (n.1223+13G>A) c.1205+13G>A (n.1205+13G>A) | gnomAD v4 |
11 | g.47343481_47343482dup | CA2613406708 | MYBPC3 | c.1223+12_1223+13dup (n.1223+12_1223+13dup) c.1205+12_1205+13dup (n.1205+12_1205+13dup) | gnomAD v4 |
11 | g.47343482del | CA2613406711 | MYBPC3 | c.1223+13del (n.1223+13del) c.1205+13del (n.1205+13del) | gnomAD v4 |
11 | g.47343480C>A | CA599059013 | MYBPC3 | c.1223+12G>T (n.1223+12G>T) c.1205+12G>T (n.1205+12G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343480C= | CA1969337112 | MYBPC3 | c.1223+12G= (n.1223+12G=) c.1205+12G= (n.1205+12G=) | |
11 | g.47343480C>G | CA2791322988 | MYBPC3 | c.1223+12G>C (n.1223+12G>C) c.1205+12G>C (n.1205+12G>C) | |
11 | g.47343480C>T | CA2613406730 | MYBPC3 | c.1223+12G>A (n.1223+12G>A) c.1205+12G>A (n.1205+12G>A) | gnomAD v4 |
11 | g.47343481C>A | CA2613406737 | MYBPC3 | c.1223+11G>T (n.1223+11G>T) c.1205+11G>T (n.1205+11G>T) | gnomAD v4 |
11 | g.47343481C= | CA1969337113 | MYBPC3 | c.1223+11G= (n.1223+11G=) c.1205+11G= (n.1205+11G=) | |
11 | g.47343481C>G | CA599059014 | MYBPC3 | c.1223+11G>C (n.1223+11G>C) c.1205+11G>C (n.1205+11G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343482C>A | CA1969337116 | MYBPC3 | c.1223+10G>T (n.1223+10G>T) c.1205+10G>T (n.1205+10G>T) | dbSNP gnomAD v4 |
11 | g.47343482C= | CA1969337114 | MYBPC3 | c.1223+10G= (n.1223+10G=) c.1205+10G= (n.1205+10G=) | |
11 | g.47343482C>G | CA2613406742 | MYBPC3 | c.1223+10G>C (n.1223+10G>C) c.1205+10G>C (n.1205+10G>C) | gnomAD v4 |
11 | g.47343482C>T | CA937656045 | MYBPC3 | c.1223+10G>A (n.1223+10G>A) c.1205+10G>A (n.1205+10G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343483A= | CA1969337117 | MYBPC3 | c.1223+9T= (n.1223+9T=) c.1205+9T= (n.1205+9T=) | |
11 | g.47343483A>C | CA677001521 | MYBPC3 | c.1223+9T>G (n.1223+9T>G) c.1205+9T>G (n.1205+9T>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343483A>G | CA2613406747 | MYBPC3 | c.1223+9T>C (n.1223+9T>C) c.1205+9T>C (n.1205+9T>C) | gnomAD v4 |
11 | g.47343484G>A | CA2499220979 | MYBPC3 | c.1223+8C>T (n.1223+8C>T) c.1205+8C>T (n.1205+8C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47343484G>C | CA2596115432 | MYBPC3 | c.1223+8C>G (n.1223+8C>G) c.1205+8C>G (n.1205+8C>G) | gnomAD v3 gnomAD v4 |
11 | g.47343484G>T | CA2574816220 | MYBPC3 | c.1223+8C>A (n.1223+8C>A) c.1205+8C>A (n.1205+8C>A) | gnomAD v4 |
11 | g.47343485G>A | CA2613406768 | MYBPC3 | c.1223+7C>T (n.1223+7C>T) c.1205+7C>T (n.1205+7C>T) | gnomAD v4 |
11 | g.47343485G= | CA1969337119 | MYBPC3 | c.1223+7C= (n.1223+7C=) c.1205+7C= (n.1205+7C=) | |
11 | g.47343485G>T | CA677001525 | MYBPC3 | c.1223+7C>A (n.1223+7C>A) c.1205+7C>A (n.1205+7C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343486C>A | CA2613406806 | MYBPC3 | c.1223+6G>T (n.1223+6G>T) c.1205+6G>T (n.1205+6G>T) | gnomAD v4 |
11 | g.47343486C>G | CA2613406812 | MYBPC3 | c.1223+6G>C (n.1223+6G>C) c.1205+6G>C (n.1205+6G>C) | gnomAD v4 |
11 | g.47343487T>A | CA937656049 | MYBPC3 | c.1223+5A>T (n.1223+5A>T) c.1205+5A>T (n.1205+5A>T) | gnomAD v3 gnomAD v4 |
11 | g.47343487T>G | CA2613406813 | MYBPC3 | c.1223+5A>C (n.1223+5A>C) c.1205+5A>C (n.1205+5A>C) | gnomAD v4 |
11 | g.47343488G>A | CA913187822 | MYBPC3 | c.1223+4C>T (n.1223+4C>T) c.1205+4C>T (n.1205+4C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47343488G= | CA1969337121 | MYBPC3 | c.1223+4C= (n.1223+4C=) c.1205+4C= (n.1205+4C=) | |
11 | g.47343488G>T | CA599059015 | MYBPC3 | c.1223+4C>A (n.1223+4C>A) c.1205+4C>A (n.1205+4C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343489C>A | CA2613406829 | MYBPC3 | c.1223+3G>T (n.1223+3G>T) c.1205+3G>T (n.1205+3G>T) | gnomAD v4 |
11 | g.47343489C>T | CA2613406821 | MYBPC3 | c.1223+3G>A (n.1223+3G>A) c.1205+3G>A (n.1205+3G>A) | gnomAD v4 |
11 | g.47343490A= | CA1969337123 | MYBPC3 | c.1223+2T= (n.1223+2T=) c.1205+2T= (n.1205+2T=) | |
11 | g.47343490A>C | CA009906 | MYBPC3 | c.1223+2T>G (n.1223+2T>G) c.1205+2T>G (n.1205+2T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47343490A>G | CA380328408 | MYBPC3 | c.1223+2T>C (n.1223+2T>C) c.1205+2T>C (n.1205+2T>C) | ClinVar dbSNP gnomAD v4 |
11 | g.47343490A>T | CA380328410 | MYBPC3 | c.1223+2T>A (n.1223+2T>A) c.1205+2T>A (n.1205+2T>A) | |
11 | g.47343491C>A | CA380328411 | MYBPC3 | c.1223+1G>T (n.1223+1G>T) c.1205+1G>T (n.1205+1G>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47343491C= | CA1969337127 | MYBPC3 | c.1223+1G= (n.1223+1G=) c.1205+1G= (n.1205+1G=) | |
11 | g.47343491C>G | CA380328412 | MYBPC3 | c.1223+1G>C (n.1223+1G>C) c.1205+1G>C (n.1205+1G>C) | |
11 | g.47343491C>T | CA009895 | MYBPC3 | c.1223+1G>A (n.1223+1G>A) c.1205+1G>A (n.1205+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343492C>A | CA380328415 | MYBPC3 | c.1223G>T (p.Ser408Ile) c.1205G>T (p.Ser402Ile) | gnomAD v4 |
11 | g.47343492C= | CA1969337128 | MYBPC3 | c.1223G= (p.Ser408=) c.1205G= (p.Ser402=) | |
11 | g.47343492C>G | CA380328418 | MYBPC3 | c.1223G>C (p.Ser408Thr) c.1205G>C (p.Ser402Thr) | ClinVar dbSNP |
11 | g.47343492C>T | CA380328421 | MYBPC3 | c.1223G>A (p.Ser408Asn) c.1205G>A (p.Ser402Asn) | ClinVar dbSNP |
11 | g.47343493T>A | CA380328424 | MYBPC3 | c.1222A>T (p.Ser408Cys) c.1204A>T (p.Ser402Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343493T>C | CA380328427 | MYBPC3 | c.1222A>G (p.Ser408Gly) c.1204A>G (p.Ser402Gly) | ClinVar dbSNP |
11 | g.47343493T>G | CA009884 | MYBPC3 | c.1222A>C (p.Ser408Arg) c.1204A>C (p.Ser402Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343493T= | CA1969337130 | MYBPC3 | c.1222A= (p.Ser408=) c.1204A= (p.Ser402=) | |
11 | g.47343494G>A | CA474220386 | MYBPC3 | c.1221C>T (p.Gly407=) c.1203C>T (p.Gly401=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343494G>C | CA474220388 | MYBPC3 | c.1221C>G (p.Gly407=) c.1203C>G (p.Gly401=) | |
11 | g.47343494G= | CA1969337132 | MYBPC3 | c.1221C= (p.Gly407=) c.1203C= (p.Gly401=) | |
11 | g.47343494G>T | CA474220390 | MYBPC3 | c.1221C>A (p.Gly407=) c.1203C>A (p.Gly401=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343495C>A | CA380328437 | MYBPC3 | c.1220G>T (p.Gly407Val) c.1202G>T (p.Gly401Val) | gnomAD v4 |
11 | g.47343495C= | CA1969337134 | MYBPC3 | c.1220G= (p.Gly407=) c.1202G= (p.Gly401=) | |
11 | g.47343495C>G | CA380328432 | MYBPC3 | c.1220G>C (p.Gly407Ala) c.1202G>C (p.Gly401Ala) | |
11 | g.47343495C>T | CA380328434 | MYBPC3 | c.1220G>A (p.Gly407Asp) c.1202G>A (p.Gly401Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343496C>A | CA380328441 | MYBPC3 | c.1219G>T (p.Gly407Cys) c.1201G>T (p.Gly401Cys) | gnomAD v4 |
11 | g.47343496C= | CA1969337136 | MYBPC3 | c.1219G= (p.Gly407=) c.1201G= (p.Gly401=) | |
11 | g.47343496C>G | CA380328444 | MYBPC3 | c.1219G>C (p.Gly407Arg) c.1201G>C (p.Gly401Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343496C>T | CA009874 | MYBPC3 | c.1219G>A (p.Gly407Ser) c.1201G>A (p.Gly401Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343497G>A | CA043168 | MYBPC3 | c.1218C>T (p.Ser406=) c.1200C>T (p.Ser400=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343497G>C | CA380328450 | MYBPC3 | c.1218C>G (p.Ser406Arg) c.1200C>G (p.Ser400Arg) | ClinVar |
11 | g.47343497G= | CA1969337139 | MYBPC3 | c.1218C= (p.Ser406=) c.1200C= (p.Ser400=) | |
11 | g.47343497G>T | CA380328453 | MYBPC3 | c.1218C>A (p.Ser406Arg) c.1200C>A (p.Ser400Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.47343498C>A | CA380328459 | MYBPC3 | c.1217G>T (p.Ser406Ile) c.1199G>T (p.Ser400Ile) | gnomAD v4 |
11 | g.47343498C= | CA1969337143 | MYBPC3 | c.1217G= (p.Ser406=) c.1199G= (p.Ser400=) | |
11 | g.47343498C>G | CA380328468 | MYBPC3 | c.1217G>C (p.Ser406Thr) c.1199G>C (p.Ser400Thr) | |
11 | g.47343498C>T | CA221697573 | MYBPC3 | c.1217G>A (p.Ser406Asn) c.1199G>A (p.Ser400Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343499T>A | CA380328473 | MYBPC3 | c.1216A>T (p.Ser406Cys) c.1198A>T (p.Ser400Cys) | ClinVar dbSNP |
11 | g.47343499T>C | CA380328474 | MYBPC3 | c.1216A>G (p.Ser406Gly) c.1198A>G (p.Ser400Gly) | gnomAD v4 |
11 | g.47343499T>G | CA380328475 | MYBPC3 | c.1216A>C (p.Ser406Arg) c.1198A>C (p.Ser400Arg) | |
11 | g.47343500C>A | CA380328479 | MYBPC3 | c.1215G>T (p.Met405Ile) c.1197G>T (p.Met399Ile) | gnomAD v4 |
11 | g.47343500C>G | CA380328481 | MYBPC3 | c.1215G>C (p.Met405Ile) c.1197G>C (p.Met399Ile) | |
11 | g.47343500C>T | CA380328477 | MYBPC3 | c.1215G>A (p.Met405Ile) c.1197G>A (p.Met399Ile) | ClinVar gnomAD v4 |
11 | g.47343501A= | CA1969337144 | MYBPC3 | c.1214T= (p.Met405=) c.1196T= (p.Met399=) | |
11 | g.47343501A>C | CA380328485 | MYBPC3 | c.1214T>G (p.Met405Arg) c.1196T>G (p.Met399Arg) | gnomAD v4 |
11 | g.47343501A>G | CA380328483 | MYBPC3 | c.1214T>C (p.Met405Thr) c.1196T>C (p.Met399Thr) | gnomAD v4 |
11 | g.47343501A>T | CA221697580 | MYBPC3 | c.1214T>A (p.Met405Lys) c.1196T>A (p.Met399Lys) | dbSNP |
11 | g.47343502T>A | CA380328487 | MYBPC3 | c.1213A>T (p.Met405Leu) c.1195A>T (p.Met399Leu) | |
11 | g.47343502T>C | CA009867 | MYBPC3 | c.1213A>G (p.Met405Val) c.1195A>G (p.Met399Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47343502T>G | CA221697585 | MYBPC3 | c.1213A>C (p.Met405Leu) c.1195A>C (p.Met399Leu) | dbSNP |
11 | g.47343502T= | CA1969337146 | MYBPC3 | c.1213A= (p.Met405=) c.1195A= (p.Met399=) | |
11 | g.47343503C>A | CA380328490 | MYBPC3 | c.1212G>T (p.Gln404His) c.1194G>T (p.Gln398His) | |
11 | g.47343503C>G | CA380328492 | MYBPC3 | c.1212G>C (p.Gln404His) c.1194G>C (p.Gln398His) | |
11 | g.47343503C>T | CA474220401 | MYBPC3 | c.1212G>A (p.Gln404=) c.1194G>A (p.Gln398=) | ClinVar gnomAD v4 |
11 | g.47343504T>A | CA380328495 | MYBPC3 | c.1211A>T (p.Gln404Leu) c.1193A>T (p.Gln398Leu) | |
11 | g.47343504T>C | CA380328497 | MYBPC3 | c.1211A>G (p.Gln404Arg) c.1193A>G (p.Gln398Arg) | gnomAD v4 |
11 | g.47343504T>G | CA043150 | MYBPC3 | c.1211A>C (p.Gln404Pro) c.1193A>C (p.Gln398Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343504T= | CA1969337148 | MYBPC3 | c.1211A= (p.Gln404=) c.1193A= (p.Gln398=) | |
11 | g.47343505G>A | CA009860 | MYBPC3 | c.1210C>T (p.Gln404Ter) c.1192C>T (p.Gln398Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47343505G>C | CA380328501 | MYBPC3 | c.1210C>G (p.Gln404Glu) c.1192C>G (p.Gln398Glu) | |
11 | g.47343505G= | CA1969337150 | MYBPC3 | c.1210C= (p.Gln404=) c.1192C= (p.Gln398=) | |
11 | g.47343505G>T | CA380328502 | MYBPC3 | c.1210C>A (p.Gln404Lys) c.1192C>A (p.Gln398Lys) | gnomAD v4 |
11 | g.47343506del | CA2613406949 | MYBPC3 | c.1210del (p.Gln404ArgfsTer2) c.1192del (p.Gln398ArgfsTer2) | gnomAD v4 |
11 | g.47343506G>A | CA474220404 | MYBPC3 | c.1209C>T (p.Ile403=) c.1191C>T (p.Ile397=) | |
11 | g.47343506G>C | CA380328503 | MYBPC3 | c.1209C>G (p.Ile403Met) c.1191C>G (p.Ile397Met) | |
11 | g.47343506G>T | CA474220403 | MYBPC3 | c.1209C>A (p.Ile403=) c.1191C>A (p.Ile397=) | gnomAD v4 |
11 | g.47343507A>C | CA380328504 | MYBPC3 | c.1208T>G (p.Ile403Ser) c.1190T>G (p.Ile397Ser) | gnomAD v4 |
11 | g.47343507A>G | CA380328509 | MYBPC3 | c.1208T>C (p.Ile403Thr) c.1190T>C (p.Ile397Thr) | |
11 | g.47343507A>T | CA380328506 | MYBPC3 | c.1208T>A (p.Ile403Asn) c.1190T>A (p.Ile397Asn) | ClinVar dbSNP |
11 | g.47343508T>A | CA380328512 | MYBPC3 | c.1207A>T (p.Ile403Phe) c.1189A>T (p.Ile397Phe) | |
11 | g.47343508T>C | CA380328516 | MYBPC3 | c.1207A>G (p.Ile403Val) c.1189A>G (p.Ile397Val) | |
11 | g.47343508T>G | CA380328519 | MYBPC3 | c.1207A>C (p.Ile403Leu) c.1189A>C (p.Ile397Leu) | ClinVar |
11 | g.47343509C>A | CA380328523 | MYBPC3 | c.1206G>T (p.Glu402Asp) c.1188G>T (p.Glu396Asp) | gnomAD v4 |
11 | g.47343509C>G | CA380328525 | MYBPC3 | c.1206G>C (p.Glu402Asp) c.1188G>C (p.Glu396Asp) | |
11 | g.47343509C>T | CA474220406 | MYBPC3 | c.1206G>A (p.Glu402=) c.1188G>A (p.Glu396=) | gnomAD v4 |
11 | g.47343510T>A | CA380328531 | MYBPC3 | c.1205A>T (p.Glu402Val) c.1187A>T (p.Glu396Val) | |
11 | g.47343510T>C | CA380328534 | MYBPC3 | c.1205A>G (p.Glu402Gly) c.1187A>G (p.Glu396Gly) | |
11 | g.47343510T>G | CA380328546 | MYBPC3 | c.1205A>C (p.Glu402Ala) c.1187A>C (p.Glu396Ala) | |
11 | g.47343511C>A | CA380328551 | MYBPC3 | c.1204G>T (p.Glu402Ter) c.1186G>T (p.Glu396Ter) | |
11 | g.47343511C>G | CA380328555 | MYBPC3 | c.1204G>C (p.Glu402Gln) c.1186G>C (p.Glu396Gln) | |
11 | g.47343511C>T | CA380328558 | MYBPC3 | c.1204G>A (p.Glu402Lys) c.1186G>A (p.Glu396Lys) | COSMIC COSMIC |
11 | g.47343512del | CA2613406962 | MYBPC3 | c.1204del (p.Glu402ArgfsTer4) c.1186del (p.Glu396ArgfsTer4) | gnomAD v4 |
11 | g.47343512C>A | CA380328563 | MYBPC3 | c.1203G>T (p.Gln401His) c.1185G>T (p.Gln395His) | |
11 | g.47343512C>G | CA380328561 | MYBPC3 | c.1203G>C (p.Gln401His) c.1185G>C (p.Gln395His) | |
11 | g.47343512C>T | CA474220412 | MYBPC3 | c.1203G>A (p.Gln401=) c.1185G>A (p.Gln395=) | |
11 | g.47343513T>A | CA380328569 | MYBPC3 | c.1202A>T (p.Gln401Leu) c.1184A>T (p.Gln395Leu) | |
11 | g.47343513T>C | CA380328574 | MYBPC3 | c.1202A>G (p.Gln401Arg) c.1184A>G (p.Gln395Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343513T>G | CA380328572 | MYBPC3 | c.1202A>C (p.Gln401Pro) c.1184A>C (p.Gln395Pro) | |
11 | g.47343513T= | CA1969337152 | MYBPC3 | c.1202A= (p.Gln401=) c.1184A= (p.Gln395=) | |
11 | g.47343514G>A | CA009855 | MYBPC3 | c.1201C>T (p.Gln401Ter) c.1183C>T (p.Gln395Ter) | ClinVar dbSNP |
11 | g.47343514G>C | CA380328587 | MYBPC3 | c.1201C>G (p.Gln401Glu) c.1183C>G (p.Gln395Glu) | |
11 | g.47343514G= | CA1969337154 | MYBPC3 | c.1201C= (p.Gln401=) c.1183C= (p.Gln395=) | |
11 | g.47343514G>T | CA380328592 | MYBPC3 | c.1201C>A (p.Gln401Lys) c.1183C>A (p.Gln395Lys) | gnomAD v4 |
11 | g.47343515dup | CA2695213922 | MYBPC3 | c.1201dup (p.Gln401ProfsTer13) c.1183dup (p.Gln395ProfsTer13) | |
11 | g.47343515G>A | CA474220418 | MYBPC3 | c.1200C>T (p.Gly400=) c.1182C>T (p.Gly394=) | |
11 | g.47343515G>C | CA474220419 | MYBPC3 | c.1200C>G (p.Gly400=) c.1182C>G (p.Gly394=) | |
11 | g.47343515G>T | CA474220421 | MYBPC3 | c.1200C>A (p.Gly400=) c.1182C>A (p.Gly394=) | |
11 | g.47343516C>A | CA380328596 | MYBPC3 | c.1199G>T (p.Gly400Val) c.1181G>T (p.Gly394Val) | gnomAD v4 |
11 | g.47343516C>G | CA380328600 | MYBPC3 | c.1199G>C (p.Gly400Ala) c.1181G>C (p.Gly394Ala) | |
11 | g.47343516C>T | CA380328603 | MYBPC3 | c.1199G>A (p.Gly400Asp) c.1181G>A (p.Gly394Asp) | ClinVar |
11 | g.47343517C>A | CA380328607 | MYBPC3 | c.1198G>T (p.Gly400Cys) c.1180G>T (p.Gly394Cys) | |
11 | g.47343517C>G | CA380328610 | MYBPC3 | c.1198G>C (p.Gly400Arg) c.1180G>C (p.Gly394Arg) | |
11 | g.47343517C>T | CA380328613 | MYBPC3 | c.1198G>A (p.Gly400Ser) c.1180G>A (p.Gly394Ser) | |
11 | g.47343518A= | CA1969337155 | MYBPC3 | c.1197T= (p.Asn399=) c.1179T= (p.Asn393=) | |
11 | g.47343518A>C | CA380328615 | MYBPC3 | c.1197T>G (p.Asn399Lys) c.1179T>G (p.Asn393Lys) | gnomAD v3 gnomAD v4 |
11 | g.47343518A>G | CA221697603 | MYBPC3 | c.1197T>C (p.Asn399=) c.1179T>C (p.Asn393=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343518A>T | CA380328617 | MYBPC3 | c.1197T>A (p.Asn399Lys) c.1179T>A (p.Asn393Lys) | |
11 | g.47343519T>A | CA380328626 | MYBPC3 | c.1196A>T (p.Asn399Ile) c.1178A>T (p.Asn393Ile) | |
11 | g.47343519T>C | CA380328623 | MYBPC3 | c.1196A>G (p.Asn399Ser) c.1178A>G (p.Asn393Ser) | |
11 | g.47343519T>G | CA380328620 | MYBPC3 | c.1196A>C (p.Asn399Thr) c.1178A>C (p.Asn393Thr) | |
11 | g.47343520T>A | CA380328631 | MYBPC3 | c.1195A>T (p.Asn399Tyr) c.1177A>T (p.Asn393Tyr) | |
11 | g.47343520T>C | CA380328633 | MYBPC3 | c.1195A>G (p.Asn399Asp) c.1177A>G (p.Asn393Asp) | ClinVar dbSNP gnomAD v4 |
11 | g.47343520T>G | CA380328637 | MYBPC3 | c.1195A>C (p.Asn399His) c.1177A>C (p.Asn393His) | |
11 | g.47343521del | CA2573147073 | MYBPC3 | c.1194del (p.Asn399MetfsTer7) c.1176del (p.Asn393MetfsTer7) | ClinVar dbSNP |
11 | g.47343521C>A | CA380328640 | MYBPC3 | c.1194G>T (p.Lys398Asn) c.1176G>T (p.Lys392Asn) | gnomAD v4 |
11 | g.47343521C>G | CA380328643 | MYBPC3 | c.1194G>C (p.Lys398Asn) c.1176G>C (p.Lys392Asn) | gnomAD v4 |
11 | g.47343521C>T | CA474220431 | MYBPC3 | c.1194G>A (p.Lys398=) c.1176G>A (p.Lys392=) | |
11 | g.47343522T>A | CA380328648 | MYBPC3 | c.1193A>T (p.Lys398Met) c.1175A>T (p.Lys392Met) | |
11 | g.47343522T>C | CA380328653 | MYBPC3 | c.1193A>G (p.Lys398Arg) c.1175A>G (p.Lys392Arg) | ClinVar gnomAD v4 |
11 | g.47343522T>G | CA380328655 | MYBPC3 | c.1193A>C (p.Lys398Thr) c.1175A>C (p.Lys392Thr) | |
11 | g.47343523T>A | CA380328660 | MYBPC3 | c.1192A>T (p.Lys398Ter) c.1174A>T (p.Lys392Ter) | |
11 | g.47343523T>C | CA380328663 | MYBPC3 | c.1192A>G (p.Lys398Glu) c.1174A>G (p.Lys392Glu) | ClinVar dbSNP |
11 | g.47343523T>G | CA380328666 | MYBPC3 | c.1192A>C (p.Lys398Gln) c.1174A>C (p.Lys392Gln) | gnomAD v4 |
11 | g.47343523T= | CA1969337157 | MYBPC3 | c.1192A= (p.Lys398=) c.1174A= (p.Lys392=) | |
11 | g.47343524G>A | CA474220439 | MYBPC3 | c.1191C>T (p.Leu397=) c.1173C>T (p.Leu391=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343524G>C | CA474220441 | MYBPC3 | c.1191C>G (p.Leu397=) c.1173C>G (p.Leu391=) | |
11 | g.47343524G= | CA1969337158 | MYBPC3 | c.1191C= (p.Leu397=) c.1173C= (p.Leu391=) | |
11 | g.47343524G>T | CA474220440 | MYBPC3 | c.1191C>A (p.Leu397=) c.1173C>A (p.Leu391=) | |
11 | g.47343525A>C | CA380328668 | MYBPC3 | c.1190T>G (p.Leu397Arg) c.1172T>G (p.Leu391Arg) | |
11 | g.47343525A>G | CA380328672 | MYBPC3 | c.1190T>C (p.Leu397Pro) c.1172T>C (p.Leu391Pro) | |
11 | g.47343525A>T | CA380328674 | MYBPC3 | c.1190T>A (p.Leu397His) c.1172T>A (p.Leu391His) | |
11 | g.47343526G>A | CA380328684 | MYBPC3 | c.1189C>T (p.Leu397Phe) c.1171C>T (p.Leu391Phe) | gnomAD v4 |
11 | g.47343526G>C | CA380328681 | MYBPC3 | c.1189C>G (p.Leu397Val) c.1171C>G (p.Leu391Val) | |
11 | g.47343526G>T | CA380328680 | MYBPC3 | c.1189C>A (p.Leu397Ile) c.1171C>A (p.Leu391Ile) | |
11 | g.47343527C>A | CA009849 | MYBPC3 | c.1188G>T (p.Trp396Cys) c.1170G>T (p.Trp390Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.47343527C= | CA1969337160 | MYBPC3 | c.1188G= (p.Trp396=) c.1170G= (p.Trp390=) | |
11 | g.47343527C>G | CA380328711 | MYBPC3 | c.1188G>C (p.Trp396Cys) c.1170G>C (p.Trp390Cys) | |
11 | g.47343527C>T | CA009844 | MYBPC3 | c.1188G>A (p.Trp396Ter) c.1170G>A (p.Trp390Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343528C>A | CA380328715 | MYBPC3 | c.1187G>T (p.Trp396Leu) c.1169G>T (p.Trp390Leu) | |
11 | g.47343528C>G | CA380328719 | MYBPC3 | c.1187G>C (p.Trp396Ser) c.1169G>C (p.Trp390Ser) | |
11 | g.47343528C>T | CA380328717 | MYBPC3 | c.1187G>A (p.Trp396Ter) c.1169G>A (p.Trp390Ter) | ClinVar |
11 | g.47343529A>C | CA380328723 | MYBPC3 | c.1186T>G (p.Trp396Gly) c.1168T>G (p.Trp390Gly) | |
11 | g.47343529A>G | CA380328728 | MYBPC3 | c.1186T>C (p.Trp396Arg) c.1168T>C (p.Trp390Arg) | |
11 | g.47343529A>T | CA380328726 | MYBPC3 | c.1186T>A (p.Trp396Arg) c.1168T>A (p.Trp390Arg) | |
11 | g.47343530T>A | CA380328732 | MYBPC3 | c.1185A>T (p.Lys395Asn) c.1167A>T (p.Lys389Asn) | |
11 | g.47343530T>C | CA474220452 | MYBPC3 | c.1185A>G (p.Lys395=) c.1167A>G (p.Lys389=) | |
11 | g.47343530T>G | CA380328734 | MYBPC3 | c.1185A>C (p.Lys395Asn) c.1167A>C (p.Lys389Asn) | |
11 | g.47343531T>A | CA380328740 | MYBPC3 | c.1184A>T (p.Lys395Ile) c.1166A>T (p.Lys389Ile) | COSMIC |
11 | g.47343531T>C | CA380328745 | MYBPC3 | c.1184A>G (p.Lys395Arg) c.1166A>G (p.Lys389Arg) | |
11 | g.47343531T>G | CA380328748 | MYBPC3 | c.1184A>C (p.Lys395Thr) c.1166A>C (p.Lys389Thr) | |
11 | g.47343532T>A | CA380328752 | MYBPC3 | c.1183A>T (p.Lys395Ter) c.1165A>T (p.Lys389Ter) | ClinVar dbSNP |
11 | g.47343532T>C | CA380328755 | MYBPC3 | c.1183A>G (p.Lys395Glu) c.1165A>G (p.Lys389Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343532T>G | CA380328758 | MYBPC3 | c.1183A>C (p.Lys395Gln) c.1165A>C (p.Lys389Gln) | |
11 | g.47343532T= | CA1969337163 | MYBPC3 | c.1183A= (p.Lys395=) c.1165A= (p.Lys389=) | |
11 | g.47343533G>A | CA474220458 | MYBPC3 | c.1182C>T (p.Val394=) c.1164C>T (p.Val388=) | gnomAD v4 |
11 | g.47343533G>C | CA043065 | MYBPC3 | c.1182C>G (p.Val394=) c.1164C>G (p.Val388=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.47343533G= | CA1969337166 | MYBPC3 | c.1182C= (p.Val394=) c.1164C= (p.Val388=) | |
11 | g.47343533G>T | CA009839 | MYBPC3 | c.1182C>A (p.Val394=) c.1164C>A (p.Val388=) | ClinVar dbSNP |
11 | g.47343534A>C | CA380328769 | MYBPC3 | c.1181T>G (p.Val394Gly) c.1163T>G (p.Val388Gly) | |
11 | g.47343534A>G | CA380328771 | MYBPC3 | c.1181T>C (p.Val394Ala) c.1163T>C (p.Val388Ala) | |
11 | g.47343534A>T | CA380328773 | MYBPC3 | c.1181T>A (p.Val394Asp) c.1163T>A (p.Val388Asp) | |
11 | g.47343535C>A | CA380328780 | MYBPC3 | c.1180G>T (p.Val394Phe) c.1162G>T (p.Val388Phe) | |
11 | g.47343535C= | CA1969337168 | MYBPC3 | c.1180G= (p.Val394=) c.1162G= (p.Val388=) | |
11 | g.47343535C>G | CA380328777 | MYBPC3 | c.1180G>C (p.Val394Leu) c.1162G>C (p.Val388Leu) | |
11 | g.47343535C>T | CA043047 | MYBPC3 | c.1180G>A (p.Val394Ile) c.1162G>A (p.Val388Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343536C>A | CA380328784 | MYBPC3 | c.1179G>T (p.Glu393Asp) c.1161G>T (p.Glu387Asp) | |
11 | g.47343536C= | CA1969337170 | MYBPC3 | c.1179G= (p.Glu393=) c.1161G= (p.Glu387=) | |
11 | g.47343536C>G | CA380328787 | MYBPC3 | c.1179G>C (p.Glu393Asp) c.1161G>C (p.Glu387Asp) | |
11 | g.47343536C>T | CA043005 | MYBPC3 | c.1179G>A (p.Glu393=) c.1161G>A (p.Glu387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343537T>A | CA380328788 | MYBPC3 | c.1178A>T (p.Glu393Val) c.1160A>T (p.Glu387Val) | |
11 | g.47343537T>C | CA380328789 | MYBPC3 | c.1178A>G (p.Glu393Gly) c.1160A>G (p.Glu387Gly) | |
11 | g.47343537T>G | CA380328792 | MYBPC3 | c.1178A>C (p.Glu393Ala) c.1160A>C (p.Glu387Ala) | |
11 | g.47343538C>A | CA380328796 | MYBPC3 | c.1177G>T (p.Glu393Ter) c.1159G>T (p.Glu387Ter) | |
11 | g.47343538C= | CA1969337172 | MYBPC3 | c.1177G= (p.Glu393=) c.1159G= (p.Glu387=) | |
11 | g.47343538C>G | CA380328798 | MYBPC3 | c.1177G>C (p.Glu393Gln) c.1159G>C (p.Glu387Gln) | dbSNP |
11 | g.47343538C>T | CA380328799 | MYBPC3 | c.1177G>A (p.Glu393Lys) c.1159G>A (p.Glu387Lys) | gnomAD v4 |
11 | g.47343539A= | CA1969337173 | MYBPC3 | c.1176T= (p.Ala392=) c.1158T= (p.Ala386=) | |
11 | g.47343539A>C | CA474220476 | MYBPC3 | c.1176T>G (p.Ala392=) c.1158T>G (p.Ala386=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343539A>G | CA474220474 | MYBPC3 | c.1176T>C (p.Ala392=) c.1158T>C (p.Ala386=) | |
11 | g.47343539A>T | CA474220475 | MYBPC3 | c.1176T>A (p.Ala392=) c.1158T>A (p.Ala386=) | |
11 | g.47343540G>A | CA380328800 | MYBPC3 | c.1175C>T (p.Ala392Val) c.1157C>T (p.Ala386Val) | |
11 | g.47343540G>C | CA380328801 | MYBPC3 | c.1175C>G (p.Ala392Gly) c.1157C>G (p.Ala386Gly) | |
11 | g.47343540G>T | CA380328802 | MYBPC3 | c.1175C>A (p.Ala392Asp) c.1157C>A (p.Ala386Asp) | |
11 | g.47343540_47343541delinsGC | CA1969337175 | MYBPC3 | c.1174_1175delinsGC (p.Ala392=) c.1156_1157delinsGC (p.Ala386=) | |
11 | g.47343541del | CA891842478 | MYBPC3 | c.1174del (p.Ala392LeufsTer14) c.1156del (p.Ala386LeufsTer14) | ClinVar dbSNP |
11 | g.47343541C>A | CA380328805 | MYBPC3 | c.1174G>T (p.Ala392Ser) c.1156G>T (p.Ala386Ser) | ClinVar gnomAD v4 |
11 | g.47343541C= | CA1969337177 | MYBPC3 | c.1174G= (p.Ala392=) c.1156G= (p.Ala386=) | |
11 | g.47343541C>G | CA380328804 | MYBPC3 | c.1174G>C (p.Ala392Pro) c.1156G>C (p.Ala386Pro) | |
11 | g.47343541C>T | CA221697618 | MYBPC3 | c.1174G>A (p.Ala392Thr) c.1156G>A (p.Ala386Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343542G>A | CA042990 | MYBPC3 | c.1173C>T (p.Asp391=) c.1155C>T (p.Asp385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343542G>C | CA380328806 | MYBPC3 | c.1173C>G (p.Asp391Glu) c.1155C>G (p.Asp385Glu) | |
11 | g.47343542G= | CA1969337179 | MYBPC3 | c.1173C= (p.Asp391=) c.1155C= (p.Asp385=) | |
11 | g.47343542G>T | CA380328808 | MYBPC3 | c.1173C>A (p.Asp391Glu) c.1155C>A (p.Asp385Glu) | |
11 | g.47343543T>A | CA380328811 | MYBPC3 | c.1172A>T (p.Asp391Val) c.1154A>T (p.Asp385Val) | |
11 | g.47343543T>C | CA380328812 | MYBPC3 | c.1172A>G (p.Asp391Gly) c.1154A>G (p.Asp385Gly) | gnomAD v4 |
11 | g.47343543T>G | CA380328813 | MYBPC3 | c.1172A>C (p.Asp391Ala) c.1154A>C (p.Asp385Ala) | |
11 | g.47343543T= | CA1969337182 | MYBPC3 | c.1172A= (p.Asp391=) c.1154A= (p.Asp385=) | |
11 | g.47343544del | CA2573051162 | MYBPC3 | c.1171del (p.Asp391ThrfsTer15) c.1153del (p.Asp385ThrfsTer15) | |
11 | g.47343544C>A | CA042973 | MYBPC3 | c.1171G>T (p.Asp391Tyr) c.1153G>T (p.Asp385Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343544C= | CA1969337183 | MYBPC3 | c.1171G= (p.Asp391=) c.1153G= (p.Asp385=) | |
11 | g.47343544C>G | CA380328814 | MYBPC3 | c.1171G>C (p.Asp391His) c.1153G>C (p.Asp385His) | |
11 | g.47343544C>T | CA380328815 | MYBPC3 | c.1171G>A (p.Asp391Asn) c.1153G>A (p.Asp385Asn) | |
11 | g.47343546_47343561dup | CA296444 | MYBPC3 | c.1156_1171dup (p.Asp391GlyfsTer4) c.1138_1153dup (p.Asp385GlyfsTer4) | ClinVar dbSNP |
11 | g.47343545A>C | CA380328816 | MYBPC3 | c.1170T>G (p.His390Gln) c.1152T>G (p.His384Gln) | |
11 | g.47343545A>G | CA474220492 | MYBPC3 | c.1170T>C (p.His390=) c.1152T>C (p.His384=) | ClinVar dbSNP |
11 | g.47343545A>T | CA380328817 | MYBPC3 | c.1170T>A (p.His390Gln) c.1152T>A (p.His384Gln) | |
11 | g.47343546T>A | CA380328818 | MYBPC3 | c.1169A>T (p.His390Leu) c.1151A>T (p.His384Leu) | |
11 | g.47343546T>C | CA380328820 | MYBPC3 | c.1169A>G (p.His390Arg) c.1151A>G (p.His384Arg) | ClinVar |
11 | g.47343546T>G | CA380328819 | MYBPC3 | c.1169A>C (p.His390Pro) c.1151A>C (p.His384Pro) | ClinVar |
11 | g.47343546_47343547delinsTG | CA1969337187 | MYBPC3 | c.1168_1169delinsCA (p.His390=) c.1150_1151delinsCA (p.His384=) | |
11 | g.47343546_47343562delinsTGGTCAGCCAGTTCCAC | CA1969337186 | MYBPC3 | c.1153_1169delinsGTGGAACTGGCTGACCA (p.Val385=) c.1135_1151delinsGTGGAACTGGCTGACCA (p.Val379=) |