Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23420116T>A | CA013725 | MYH7 | c.3455A>T (p.Glu1152Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23420116T>C | CA389043832 | MYH7 | c.3455A>G (p.Glu1152Gly) | gnomAD v4 |
14 | g.23420116T>G | CA389043834 | MYH7 | c.3455A>C (p.Glu1152Ala) | |
14 | g.23420116T= | CA2123446911 | MYH7 | c.3455A= (p.Glu1152=) | |
14 | g.23420117C>A | CA389043836 | MYH7 | c.3454G>T (p.Glu1152Ter) | |
14 | g.23420117C>G | CA389043838 | MYH7 | c.3454G>C (p.Glu1152Gln) | |
14 | g.23420117C>T | CA389043839 | MYH7 | c.3454G>A (p.Glu1152Lys) | |
14 | g.23420118T>A | CA389043842 | MYH7 | c.3453A>T (p.Glu1151Asp) | |
14 | g.23420118T>C | CA485621285 | MYH7 | c.3453A>G (p.Glu1151=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23420118T>G | CA389043840 | MYH7 | c.3453A>C (p.Glu1151Asp) | |
14 | g.23420118T= | CA2123446917 | MYH7 | c.3453A= (p.Glu1151=) | |
14 | g.23420119T>A | CA389043843 | MYH7 | c.3452A>T (p.Glu1151Val) | |
14 | g.23420119T>C | CA389043845 | MYH7 | c.3452A>G (p.Glu1151Gly) | |
14 | g.23420119T>G | CA389043846 | MYH7 | c.3452A>C (p.Glu1151Ala) | |
14 | g.23420120C>A | CA389043847 | MYH7 | c.3451G>T (p.Glu1151Ter) | |
14 | g.23420120C= | CA2123446925 | MYH7 | c.3451G= (p.Glu1151=) | |
14 | g.23420120C>G | CA389043849 | MYH7 | c.3451G>C (p.Glu1151Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23420120C>T | CA389043850 | MYH7 | c.3451G>A (p.Glu1151Lys) | |
14 | g.23420121C>A | CA485621296 | MYH7 | c.3450G>T (p.Leu1150=) | |
14 | g.23420121C>G | CA485621298 | MYH7 | c.3450G>C (p.Leu1150=) | |
14 | g.23420121C>T | CA485621300 | MYH7 | c.3450G>A (p.Leu1150=) | gnomAD v4 |
14 | g.23420122A>C | CA389043855 | MYH7 | c.3449T>G (p.Leu1150Arg) | |
14 | g.23420122A>G | CA389043854 | MYH7 | c.3449T>C (p.Leu1150Pro) | |
14 | g.23420122A>T | CA389043853 | MYH7 | c.3449T>A (p.Leu1150Gln) | |
14 | g.23420123G>A | CA485621305 | MYH7 | c.3448C>T (p.Leu1150=) | |
14 | g.23420123G>C | CA389043856 | MYH7 | c.3448C>G (p.Leu1150Val) | |
14 | g.23420123G>T | CA389043857 | MYH7 | c.3448C>A (p.Leu1150Met) | |
14 | g.23420124C>A | CA037375 | MYH7 | c.3447G>T (p.Arg1149=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23420124C= | CA2123446932 | MYH7 | c.3447G= (p.Arg1149=) | |
14 | g.23420124C>G | CA485621308 | MYH7 | c.3447G>C (p.Arg1149=) | ClinVar |
14 | g.23420124C>T | CA485621310 | MYH7 | c.3447G>A (p.Arg1149=) | gnomAD v4 |
14 | g.23420125C>A | CA389043862 | MYH7 | c.3446G>T (p.Arg1149Leu) | |
14 | g.23420125C= | CA2123446939 | MYH7 | c.3446G= (p.Arg1149=) | |
14 | g.23420125C>G | CA389043860 | MYH7 | c.3446G>C (p.Arg1149Pro) | ClinVar dbSNP |
14 | g.23420125C>T | CA037355 | MYH7 | c.3446G>A (p.Arg1149Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23420126G>A | CA389043863 | MYH7 | c.3445C>T (p.Arg1149Trp) | ClinVar dbSNP gnomAD v4 |
14 | g.23420126G>C | CA389043865 | MYH7 | c.3445C>G (p.Arg1149Gly) | ClinVar gnomAD v4 |
14 | g.23420126G>T | CA485621312 | MYH7 | c.3445C>A (p.Arg1149=) | gnomAD v4 |
14 | g.23420127C>A | CA389043867 | MYH7 | c.3444G>T (p.Glu1148Asp) | |
14 | g.23420127C>G | CA389043869 | MYH7 | c.3444G>C (p.Glu1148Asp) | gnomAD v4 |
14 | g.23420127C>T | CA485621313 | MYH7 | c.3444G>A (p.Glu1148=) | |
14 | g.23420128T>A | CA389043870 | MYH7 | c.3443A>T (p.Glu1148Val) | |
14 | g.23420128T>C | CA389043872 | MYH7 | c.3443A>G (p.Glu1148Gly) | |
14 | g.23420128T>G | CA389043873 | MYH7 | c.3443A>C (p.Glu1148Ala) | |
14 | g.23420129C>A | CA389043874 | MYH7 | c.3442G>T (p.Glu1148Ter) | ClinVar gnomAD v4 |
14 | g.23420129C= | CA2123446943 | MYH7 | c.3442G= (p.Glu1148=) | |
14 | g.23420129C>G | CA389043875 | MYH7 | c.3442G>C (p.Glu1148Gln) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23420129C>T | CA013712 | MYH7 | c.3442G>A (p.Glu1148Lys) | ClinVar dbSNP gnomAD v4 |
14 | g.23420130G>A | CA485621315 | MYH7 | c.3441C>T (p.Ser1147=) | COSMIC |
14 | g.23420130G>C | CA389043877 | MYH7 | c.3441C>G (p.Ser1147Arg) | ClinVar dbSNP |
14 | g.23420130G= | CA2123446950 | MYH7 | c.3441C= (p.Ser1147=) | |
14 | g.23420130G>T | CA389043878 | MYH7 | c.3441C>A (p.Ser1147Arg) | gnomAD v4 |
14 | g.23420131C>A | CA389043880 | MYH7 | c.3440G>T (p.Ser1147Ile) | |
14 | g.23420131C= | CA2123446954 | MYH7 | c.3440G= (p.Ser1147=) | |
14 | g.23420131C>G | CA037344 | MYH7 | c.3440G>C (p.Ser1147Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23420131C>T | CA389043879 | MYH7 | c.3440G>A (p.Ser1147Asn) | |
14 | g.23420132T>A | CA389043881 | MYH7 | c.3439A>T (p.Ser1147Cys) | |
14 | g.23420132T>C | CA389043882 | MYH7 | c.3439A>G (p.Ser1147Gly) | |
14 | g.23420132T>G | CA389043883 | MYH7 | c.3439A>C (p.Ser1147Arg) | ClinVar dbSNP |
14 | g.23420132T= | CA2123446963 | MYH7 | c.3439A= (p.Ser1147=) | |
14 | g.23420133G>A | CA10576955 | MYH7 | c.3438C>T (p.Ile1146=) | ClinVar dbSNP gnomAD v4 |
14 | g.23420133G>C | CA389043885 | MYH7 | c.3438C>G (p.Ile1146Met) | |
14 | g.23420133G= | CA2123446967 | MYH7 | c.3438C= (p.Ile1146=) | |
14 | g.23420133G>T | CA485621318 | MYH7 | c.3438C>A (p.Ile1146=) | gnomAD v4 |
14 | g.23420134A= | CA2123446973 | MYH7 | c.3437T= (p.Ile1146=) | |
14 | g.23420134A>C | CA037306 | MYH7 | c.3437T>G (p.Ile1146Ser) | dbSNP ExAC gnomAD v2 |
14 | g.23420134A>G | CA389043888 | MYH7 | c.3437T>C (p.Ile1146Thr) | |
14 | g.23420134A>T | CA389043889 | MYH7 | c.3437T>A (p.Ile1146Asn) | gnomAD v4 |
14 | g.23420135T>A | CA389043891 | MYH7 | c.3436A>T (p.Ile1146Phe) | dbSNP |
14 | g.23420135T>C | CA389043892 | MYH7 | c.3436A>G (p.Ile1146Val) | |
14 | g.23420135T>G | CA389043894 | MYH7 | c.3436A>C (p.Ile1146Leu) | |
14 | g.23420135T= | CA2123446977 | MYH7 | c.3436A= (p.Ile1146=) | |
14 | g.23420135_23420138delinsTCTC | CA2123446976 | MYH7 | c.3433_3436delinsGAGA (p.Glu1145=) | |
14 | g.23420136C>A | CA389043897 | MYH7 | c.3435G>T (p.Glu1145Asp) | gnomAD v4 |
14 | g.23420136C>G | CA389043895 | MYH7 | c.3435G>C (p.Glu1145Asp) | |
14 | g.23420136C>T | CA485621320 | MYH7 | c.3435G>A (p.Glu1145=) | |
14 | g.23420140_23420142del | CA613318047 | MYH7 | c.3433_3435del (p.Glu1145del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23420137T>A | CA389043898 | MYH7 | c.3434A>T (p.Glu1145Val) | |
14 | g.23420137T>C | CA389043900 | MYH7 | c.3434A>G (p.Glu1145Gly) | |
14 | g.23420137T>G | CA389043902 | MYH7 | c.3434A>C (p.Glu1145Ala) | |
14 | g.23420138C>A | CA389043903 | MYH7 | c.3433G>T (p.Glu1145Ter) | |
14 | g.23420138C>G | CA389043905 | MYH7 | c.3433G>C (p.Glu1145Gln) | |
14 | g.23420138C>T | CA389043906 | MYH7 | c.3433G>A (p.Glu1145Lys) | |
14 | g.23420139C>A | CA389043908 | MYH7 | c.3432G>T (p.Glu1144Asp) | |
14 | g.23420139C= | CA2123446988 | MYH7 | c.3432G= (p.Glu1144=) | |
14 | g.23420139C>G | CA389043910 | MYH7 | c.3432G>C (p.Glu1144Asp) | |
14 | g.23420139C>T | CA037295 | MYH7 | c.3432G>A (p.Glu1144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23420140T>A | CA389043911 | MYH7 | c.3431A>T (p.Glu1144Val) | |
14 | g.23420140T>C | CA389043912 | MYH7 | c.3431A>G (p.Glu1144Gly) | |
14 | g.23420140T>G | CA389043914 | MYH7 | c.3431A>C (p.Glu1144Ala) | |
14 | g.23420141C>A | CA389043916 | MYH7 | c.3430G>T (p.Glu1144Ter) | |
14 | g.23420141C>G | CA389043918 | MYH7 | c.3430G>C (p.Glu1144Gln) | |
14 | g.23420141C>T | CA10575446 | MYH7 | c.3430G>A (p.Glu1144Lys) | |
14 | g.23420142C>A | CA485621326 | MYH7 | c.3429G>T (p.Leu1143=) | |
14 | g.23420142C= | CA2123446997 | MYH7 | c.3429G= (p.Leu1143=) | |
14 | g.23420142C>G | CA485621327 | MYH7 | c.3429G>C (p.Leu1143=) | |
14 | g.23420142C>T | CA485621328 | MYH7 | c.3429G>A (p.Leu1143=) | dbSNP gnomAD v2 |
14 | g.23420143A= | CA2123447008 | MYH7 | c.3428T= (p.Leu1143=) | |
14 | g.23420143A>C | CA389043919 | MYH7 | c.3428T>G (p.Leu1143Arg) | ClinVar dbSNP gnomAD v4 |
14 | g.23420143A>G | CA389043921 | MYH7 | c.3428T>C (p.Leu1143Pro) | |
14 | g.23420143A>T | CA389043923 | MYH7 | c.3428T>A (p.Leu1143Gln) | |
14 | g.23420144G>A | CA485621329 | MYH7 | c.3427C>T (p.Leu1143=) | |
14 | g.23420144G>C | CA389043924 | MYH7 | c.3427C>G (p.Leu1143Val) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23420144G= | CA2123447012 | MYH7 | c.3427C= (p.Leu1143=) | |
14 | g.23420144G>T | CA389043926 | MYH7 | c.3427C>A (p.Leu1143Met) | |
14 | g.23420145C>A | CA389043929 | MYH7 | c.3426G>T (p.Glu1142Asp) | |
14 | g.23420145C= | CA2123447014 | MYH7 | c.3426G= (p.Glu1142=) | |
14 | g.23420145C>G | CA389043927 | MYH7 | c.3426G>C (p.Glu1142Asp) | |
14 | g.23420145C>T | CA485621331 | MYH7 | c.3426G>A (p.Glu1142=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23420146T>A | CA389043931 | MYH7 | c.3425A>T (p.Glu1142Val) | |
14 | g.23420146T>C | CA389043933 | MYH7 | c.3425A>G (p.Glu1142Gly) | |
14 | g.23420146T>G | CA389043934 | MYH7 | c.3425A>C (p.Glu1142Ala) | |
14 | g.23420146_23420147delinsTC | CA2123447016 | MYH7 | c.3424_3425delinsGA (p.Glu1142=) | |
14 | g.23420147C>A | CA389043936 | MYH7 | c.3424G>T (p.Glu1142Ter) | |
14 | g.23420147C= | CA2123447027 | MYH7 | c.3424G= (p.Glu1142=) | |
14 | g.23420147C>G | CA389043938 | MYH7 | c.3424G>C (p.Glu1142Gln) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23420147C>T | CA013692 | MYH7 | c.3424G>A (p.Glu1142Lys) | ClinVar dbSNP |
14 | g.23420149dup | CA2728939110 | MYH7 | c.3424dup (p.Glu1142GlyfsTer?) | dbSNP |
14 | g.23420149del | CA613318048 | MYH7 | c.3424del (p.Glu1142SerfsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23420148C>A | CA485621333 | MYH7 | c.3423G>T (p.Arg1141=) | gnomAD v4 |
14 | g.23420148C>G | CA485621334 | MYH7 | c.3423G>C (p.Arg1141=) | |
14 | g.23420148C>T | CA485621335 | MYH7 | c.3423G>A (p.Arg1141=) | |
14 | g.23420149C>A | CA389043942 | MYH7 | c.3422G>T (p.Arg1141Leu) | |
14 | g.23420149C= | CA2123447034 | MYH7 | c.3422G= (p.Arg1141=) | |
14 | g.23420149C>G | CA389043940 | MYH7 | c.3422G>C (p.Arg1141Pro) | |
14 | g.23420149C>T | CA389043939 | MYH7 | c.3422G>A (p.Arg1141Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23420150G>A | CA037275 | MYH7 | c.3421C>T (p.Arg1141Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23420150G>C | CA389043944 | MYH7 | c.3421C>G (p.Arg1141Gly) | |
14 | g.23420150G= | CA2123447039 | MYH7 | c.3421C= (p.Arg1141=) | |
14 | g.23420150G>T | CA485621336 | MYH7 | c.3421C>A (p.Arg1141=) | gnomAD v4 |
14 | g.23420151A>C | CA485621340 | MYH7 | c.3420T>G (p.Ser1140=) | |
14 | g.23420151A>G | CA485621339 | MYH7 | c.3420T>C (p.Ser1140=) | |
14 | g.23420151A>T | CA485621338 | MYH7 | c.3420T>A (p.Ser1140=) | gnomAD v4 |
14 | g.23420152G>A | CA037252 | MYH7 | c.3419C>T (p.Ser1140Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23420152G>C | CA389043946 | MYH7 | c.3419C>G (p.Ser1140Cys) | |
14 | g.23420152G= | CA2123447042 | MYH7 | c.3419C= (p.Ser1140=) | |
14 | g.23420152G>T | CA389043947 | MYH7 | c.3419C>A (p.Ser1140Tyr) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23420153A>C | CA389043948 | MYH7 | c.3418T>G (p.Ser1140Ala) | |
14 | g.23420153A>G | CA389043950 | MYH7 | c.3418T>C (p.Ser1140Pro) | |
14 | g.23420153A>T | CA389043953 | MYH7 | c.3418T>A (p.Ser1140Thr) | |
14 | g.23420154C>A | CA485621344 | MYH7 | c.3417G>T (p.Leu1139=) | |
14 | g.23420154C>G | CA485621345 | MYH7 | c.3417G>C (p.Leu1139=) | ClinVar |
14 | g.23420154C>T | CA485621346 | MYH7 | c.3417G>A (p.Leu1139=) | |
14 | g.23420155A>C | CA389043956 | MYH7 | c.3416T>G (p.Leu1139Arg) | |
14 | g.23420155A>G | CA389043957 | MYH7 | c.3416T>C (p.Leu1139Pro) | |
14 | g.23420155A>T | CA389043959 | MYH7 | c.3416T>A (p.Leu1139Gln) | |
14 | g.23420156G>A | CA037233 | MYH7 | c.3415C>T (p.Leu1139=) n.3523C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23420156G>C | CA389043963 | MYH7 | c.3415C>G (p.Leu1139Val) n.3523C>G | |
14 | g.23420156G= | CA2123447045 | MYH7 | c.3415C= (p.Leu1139=) n.3523C= | |
14 | g.23420156G>T | CA389043965 | MYH7 | c.3415C>A (p.Leu1139Met) n.3523C>A | gnomAD v4 |
14 | g.23420157G>A | CA485621347 | MYH7 | c.3414C>T (p.Asp1138=) n.3522C>T | ClinVar dbSNP gnomAD v4 |
14 | g.23420157G>C | CA389043969 | MYH7 | c.3414C>G (p.Asp1138Glu) n.3522C>G | ClinVar |
14 | g.23420157G= | CA2123447054 | MYH7 | c.3414C= (p.Asp1138=) n.3522C= | |
14 | g.23420157G>T | CA389043967 | MYH7 | c.3414C>A (p.Asp1138Glu) n.3522C>A | |
14 | g.23420158T>A | CA389043970 | MYH7 | c.3413A>T (p.Asp1138Val) n.3521A>T | |
14 | g.23420158T>C | CA389043971 | MYH7 | c.3413A>G (p.Asp1138Gly) n.3521A>G | |
14 | g.23420158T>G | CA389043972 | MYH7 | c.3413A>C (p.Asp1138Ala) n.3521A>C | dbSNP |
14 | g.23420158T= | CA2123447061 | MYH7 | c.3413A= (p.Asp1138=) n.3521A= | |
14 | g.23420159C>A | CA389043974 | MYH7 | c.3412G>T (p.Asp1138Tyr) n.3520G>T | |
14 | g.23420159C>G | CA389043976 | MYH7 | c.3412G>C (p.Asp1138His) n.3520G>C | |
14 | g.23420159C>T | CA389043977 | MYH7 | c.3412G>A (p.Asp1138Asn) n.3520G>A | |
14 | g.23420160T>A | CA485621349 | MYH7 | c.3411A>T (p.Ser1137=) n.3519A>T | |
14 | g.23420160T>C | CA485621350 | MYH7 | c.3411A>G (p.Ser1137=) n.3519A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23420160T>G | CA485621351 | MYH7 | c.3411A>C (p.Ser1137=) n.3519A>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23420160T= | CA2123447066 | MYH7 | c.3411A= (p.Ser1137=) n.3519A= | |
14 | g.23420161G>A | CA389043978 | MYH7 | c.3410C>T (p.Ser1137Leu) n.3518C>T | gnomAD v4 |
14 | g.23420161G>C | CA389043980 | MYH7 | c.3410C>G (p.Ser1137Ter) n.3518C>G | |
14 | g.23420161G>T | CA389043981 | MYH7 | c.3410C>A (p.Ser1137Ter) n.3518C>A | gnomAD v4 |
14 | g.23420162A>C | CA389043982 | MYH7 | c.3409T>G (p.Ser1137Ala) n.3517T>G | ClinVar |
14 | g.23420162A>G | CA389043983 | MYH7 | c.3409T>C (p.Ser1137Pro) n.3517T>C | |
14 | g.23420162A>T | CA389043985 | MYH7 | c.3409T>A (p.Ser1137Thr) n.3517T>A | |
14 | g.23420163G>A | CA257815784 | MYH7 | c.3408C>T (p.Arg1136=) n.3516C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23420163G>C | CA485621354 | MYH7 | c.3408C>G (p.Arg1136=) n.3516C>G | |
14 | g.23420163G= | CA2123447068 | MYH7 | c.3408C= (p.Arg1136=) n.3516C= | |
14 | g.23420163G>T | CA485621353 | MYH7 | c.3408C>A (p.Arg1136=) n.3516C>A | ClinVar |
14 | g.23420164C>A | CA389043989 | MYH7 | c.3407G>T (p.Arg1136Leu) n.3515G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23420164C= | CA2123447075 | MYH7 | c.3407G= (p.Arg1136=) n.3515G= | |
14 | g.23420164C>G | CA389043988 | MYH7 | c.3407G>C (p.Arg1136Pro) n.3515G>C | |
14 | g.23420164C>T | CA013679 | MYH7 | c.3407G>A (p.Arg1136His) n.3515G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23420165G>A | CA389043990 | MYH7 | c.3406C>T (p.Arg1136Cys) n.3514C>T | ClinVar dbSNP gnomAD v2 |
14 | g.23420165G>C | CA389043992 | MYH7 | c.3406C>G (p.Arg1136Gly) n.3514C>G | |
14 | g.23420165G= | CA2123447089 | MYH7 | c.3406C= (p.Arg1136=) n.3514C= | |
14 | g.23420165G>T | CA389043994 | MYH7 | c.3406C>A (p.Arg1136Ser) n.3514C>A | gnomAD v4 |
14 | g.23420166C>A | CA485621355 | MYH7 | c.3405G>T (p.Leu1135=) n.3513G>T | |
14 | g.23420166C>G | CA485621356 | MYH7 | c.3405G>C (p.Leu1135=) n.3513G>C | |
14 | g.23420166C>T | CA485621357 | MYH7 | c.3405G>A (p.Leu1135=) n.3513G>A | |
14 | g.23420167A= | CA2123447093 | MYH7 | c.3404T= (p.Leu1135=) n.3512T= | |
14 | g.23420167A>C | CA389043995 | MYH7 | c.3404T>G (p.Leu1135Arg) n.3512T>G | ClinVar dbSNP |
14 | g.23420167A>G | CA389043997 | MYH7 | c.3404T>C (p.Leu1135Pro) n.3512T>C | |
14 | g.23420167A>T | CA389043998 | MYH7 | c.3404T>A (p.Leu1135Gln) n.3512T>A | |
14 | g.23420168G>A | CA485621358 | MYH7 | c.3403C>T (p.Leu1135=) n.3511C>T | ClinVar |
14 | g.23420168G>C | CA389044002 | MYH7 | c.3403C>G (p.Leu1135Val) n.3511C>G | |
14 | g.23420168G>T | CA389044000 | MYH7 | c.3403C>A (p.Leu1135Met) n.3511C>A | |
14 | g.23420169C>A | CA389044004 | MYH7 | c.3402G>T (p.Lys1134Asn) n.3510G>T | |
14 | g.23420169C= | CA2123447100 | MYH7 | c.3402G= (p.Lys1134=) n.3510G= | |
14 | g.23420169C>G | CA389044005 | MYH7 | c.3402G>C (p.Lys1134Asn) n.3510G>C | |
14 | g.23420169C>T | CA013671 | MYH7 | c.3402G>A (p.Lys1134=) n.3510G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23420170T>A | CA389044007 | MYH7 | c.3401A>T (p.Lys1134Met) n.3509A>T | |
14 | g.23420170T>C | CA389044009 | MYH7 | c.3401A>G (p.Lys1134Arg) n.3509A>G | ClinVar dbSNP |
14 | g.23420170T>G | CA389044010 | MYH7 | c.3401A>C (p.Lys1134Thr) n.3509A>C | |
14 | g.23420170T= | CA2123447110 | MYH7 | c.3401A= (p.Lys1134=) n.3509A= | |
14 | g.23420171T>A | CA389044012 | MYH7 | c.3400A>T (p.Lys1134Ter) n.3508A>T | |
14 | g.23420171T>C | CA389044014 | MYH7 | c.3400A>G (p.Lys1134Glu) n.3508A>G | |
14 | g.23420171T>G | CA389044013 | MYH7 | c.3400A>C (p.Lys1134Gln) n.3508A>C | |
14 | g.23420172C>A | CA389044015 | MYH7 | c.3399G>T (p.Glu1133Asp) n.3507G>T | |
14 | g.23420172C= | CA2123447113 | MYH7 | c.3399G= (p.Glu1133=) n.3507G= | |
14 | g.23420172C>G | CA389044017 | MYH7 | c.3399G>C (p.Glu1133Asp) n.3507G>C | |
14 | g.23420172C>T | CA485621360 | MYH7 | c.3399G>A (p.Glu1133=) n.3507G>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23420173T>A | CA389044019 | MYH7 | c.3398A>T (p.Glu1133Val) n.3506A>T | |
14 | g.23420173T>C | CA389044021 | MYH7 | c.3398A>G (p.Glu1133Gly) n.3506A>G | |
14 | g.23420173T>G | CA389044022 | MYH7 | c.3398A>C (p.Glu1133Ala) n.3506A>C | |
14 | g.23420174C>A | CA389044023 | MYH7 | c.3397G>T (p.Glu1133Ter) n.3505G>T | gnomAD v4 |
14 | g.23420174C>G | CA389044024 | MYH7 | c.3397G>C (p.Glu1133Gln) n.3505G>C | |
14 | g.23420174C>T | CA389044026 | MYH7 | c.3397G>A (p.Glu1133Lys) n.3505G>A | |
14 | g.23420175C>A | CA485621364 | MYH7 | c.3396G>T (p.Val1132=) n.3504G>T | gnomAD v4 |
14 | g.23420175C= | CA2123447116 | MYH7 | c.3396G= (p.Val1132=) n.3504G= | |
14 | g.23420175C>G | CA485621365 | MYH7 | c.3396G>C (p.Val1132=) n.3504G>C | |
14 | g.23420175C>T | CA485621367 | MYH7 | c.3396G>A (p.Val1132=) n.3504G>A | ClinVar dbSNP gnomAD v2 |
14 | g.23420176A>C | CA389044028 | MYH7 | c.3395T>G (p.Val1132Gly) n.3503T>G | |
14 | g.23420176A>G | CA389044030 | MYH7 | c.3395T>C (p.Val1132Ala) n.3503T>C | |
14 | g.23420176A>T | CA389044031 | MYH7 | c.3395T>A (p.Val1132Glu) n.3503T>A | |
14 | g.23420177C>A | CA389044034 | MYH7 | c.3394G>T (p.Val1132Leu) n.3502G>T | |
14 | g.23420177C>G | CA389044036 | MYH7 | c.3394G>C (p.Val1132Leu) n.3502G>C | |
14 | g.23420177C>T | CA389044032 | MYH7 | c.3394G>A (p.Val1132Met) n.3502G>A | ClinVar |
14 | g.23420178C>A | CA389044039 | MYH7 | c.3393G>T (p.Lys1131Asn) n.3501G>T | |
14 | g.23420178C>G | CA389044038 | MYH7 | c.3393G>C (p.Lys1131Asn) n.3501G>C | |
14 | g.23420178C>T | CA485621369 | MYH7 | c.3393G>A (p.Lys1131=) n.3501G>A | gnomAD v4 |
14 | g.23420179T>A | CA389044044 | MYH7 | c.3392A>T (p.Lys1131Met) n.3500A>T | |
14 | g.23420179T>C | CA389044040 | MYH7 | c.3392A>G (p.Lys1131Arg) n.3500A>G | gnomAD v4 |
14 | g.23420179T>G | CA389044042 | MYH7 | c.3392A>C (p.Lys1131Thr) n.3500A>C | |
14 | g.23420180del | CA2624232184 | MYH7 | c.3392del (p.Lys1131ArgfsTer?) n.3500del | gnomAD v4 |
14 | g.23420180T>A | CA389044045 | MYH7 | c.3391A>T (p.Lys1131Ter) n.3499A>T | |
14 | g.23420180T>C | CA389044047 | MYH7 | c.3391A>G (p.Lys1131Glu) n.3499A>G | |
14 | g.23420180T>G | CA389044048 | MYH7 | c.3391A>C (p.Lys1131Gln) n.3499A>C | |
14 | g.23420181A>C | CA485621371 | MYH7 | c.3390T>G (p.Ala1130=) n.3498T>G | |
14 | g.23420181A>G | CA485621372 | MYH7 | c.3390T>C (p.Ala1130=) n.3498T>C | |
14 | g.23420181A>T | CA485621373 | MYH7 | c.3390T>A (p.Ala1130=) n.3498T>A | |
14 | g.23420182G>A | CA389044049 | MYH7 | c.3389C>T (p.Ala1130Val) n.3497C>T | |
14 | g.23420182G>C | CA389044051 | MYH7 | c.3389C>G (p.Ala1130Gly) n.3497C>G | |
14 | g.23420182G= | CA2123447124 | MYH7 | c.3389C= (p.Ala1130=) n.3497C= | |
14 | g.23420182G>T | CA037183 | MYH7 | c.3389C>A (p.Ala1130Asp) n.3497C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23420183C>A | CA389044053 | MYH7 | c.3388G>T (p.Ala1130Ser) n.3496G>T | gnomAD v4 |
14 | g.23420183C>G | CA389044055 | MYH7 | c.3388G>C (p.Ala1130Pro) n.3496G>C | |
14 | g.23420183C>T | CA389044056 | MYH7 | c.3388G>A (p.Ala1130Thr) n.3496G>A | gnomAD v4 |
14 | g.23420183_23420189del | CA2499222587 | MYH7 | c.3382_3388del (p.Ala1128LeufsTer?) n.3490_3496del | dbSNP |
14 | g.23420184C>A | CA389044057 | MYH7 | c.3387G>T (p.Arg1129Ser) n.3495G>T | |
14 | g.23420184C= | CA2123447128 | MYH7 | c.3387G= (p.Arg1129=) n.3495G= | |
14 | g.23420184C>G | CA389044058 | MYH7 | c.3387G>C (p.Arg1129Ser) n.3495G>C | gnomAD v4 |
14 | g.23420184C>T | CA485621375 | MYH7 | c.3387G>A (p.Arg1129=) n.3495G>A | ClinVar dbSNP |
14 | g.23420185C>A | CA389044063 | MYH7 | c.3386G>T (p.Arg1129Met) n.3494G>T | |
14 | g.23420185C>G | CA389044060 | MYH7 | c.3386G>C (p.Arg1129Thr) n.3494G>C | gnomAD v4 |
14 | g.23420185C>T | CA389044062 | MYH7 | c.3386G>A (p.Arg1129Lys) n.3494G>A | |
14 | g.23420186T>A | CA389044065 | MYH7 | c.3385A>T (p.Arg1129Trp) n.3493A>T | |
14 | g.23420186T>C | CA389044066 | MYH7 | c.3385A>G (p.Arg1129Gly) n.3493A>G | |
14 | g.23420186T>G | CA485621377 | MYH7 | c.3385A>C (p.Arg1129=) n.3493A>C | |
14 | g.23420187G>A | CA485621378 | MYH7 | c.3384C>T (p.Ala1128=) n.3492C>T | ClinVar gnomAD v4 |
14 | g.23420187G>C | CA485621379 | MYH7 | c.3384C>G (p.Ala1128=) n.3492C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23420187G= | CA2123447135 | MYH7 | c.3384C= (p.Ala1128=) n.3492C= | |
14 | g.23420187G>T | CA485621380 | MYH7 | c.3384C>A (p.Ala1128=) n.3492C>A | gnomAD v4 |
14 | g.23420188del | CA2624232213 | MYH7 | c.3384del (p.Arg1129GlyfsTer?) n.3492del | gnomAD v4 |
14 | g.23420188G>A | CA389044067 | MYH7 | c.3383C>T (p.Ala1128Val) n.3491C>T | |
14 | g.23420188G>C | CA389044068 | MYH7 | c.3383C>G (p.Ala1128Gly) n.3491C>G | |
14 | g.23420188G>T | CA389044071 | MYH7 | c.3383C>A (p.Ala1128Asp) n.3491C>A | |
14 | g.23420189_23420190del | CA2624232245 | MYH7 | c.3382_3383del (p.Ala1128GlnfsTer3) n.3490_3491del | gnomAD v4 |
14 | g.23420189C>A | CA389044072 | MYH7 | c.3382G>T (p.Ala1128Ser) n.3490G>T | ClinVar gnomAD v4 |
14 | g.23420189C= | CA2123447142 | MYH7 | c.3382G= (p.Ala1128=) n.3490G= | |
14 | g.23420189C>G | CA389044074 | MYH7 | c.3382G>C (p.Ala1128Pro) n.3490G>C | |
14 | g.23420189C>T | CA013661 | MYH7 | c.3382G>A (p.Ala1128Thr) n.3490G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23420190G>A | CA485621381 | MYH7 | c.3381C>T (p.Thr1127=) n.3489C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.23420190G>C | CA485621383 | MYH7 | c.3381C>G (p.Thr1127=) n.3489C>G | |
14 | g.23420190G= | CA2123447149 | MYH7 | c.3381C= (p.Thr1127=) n.3489C= | |
14 | g.23420190G>T | CA485621384 | MYH7 | c.3381C>A (p.Thr1127=) n.3489C>A | dbSNP |
14 | g.23420191G>A | CA389044076 | MYH7 | c.3380C>T (p.Thr1127Ile) n.3488C>T | gnomAD v4 |
14 | g.23420191G>C | CA389044078 | MYH7 | c.3380C>G (p.Thr1127Ser) n.3488C>G | |
14 | g.23420191G>T | CA389044080 | MYH7 | c.3380C>A (p.Thr1127Asn) n.3488C>A | dbSNP gnomAD v4 |
14 | g.23420192T>A | CA389044083 | MYH7 | c.3379A>T (p.Thr1127Ser) n.3487A>T | |
14 | g.23420192T>C | CA389044082 | MYH7 | c.3379A>G (p.Thr1127Ala) n.3487A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23420192T>G | CA389044081 | MYH7 | c.3379A>C (p.Thr1127Pro) n.3487A>C | |
14 | g.23420192T= | CA2123447156 | MYH7 | c.3379A= (p.Thr1127=) n.3487A= | |
14 | g.23420193G>A | CA485621388 | MYH7 | c.3378C>T (p.Arg1126=) n.3486C>T | gnomAD v4 |
14 | g.23420193G>C | CA485621387 | MYH7 | c.3378C>G (p.Arg1126=) n.3486C>G | |
14 | g.23420193G>T | CA485621386 | MYH7 | c.3378C>A (p.Arg1126=) n.3486C>A | |
14 | g.23420194C>A | CA389044084 | MYH7 | c.3377G>T (p.Arg1126Leu) n.3485G>T | ClinVar dbSNP gnomAD v4 |
14 | g.23420194C= | CA2123447161 | MYH7 | c.3377G= (p.Arg1126=) n.3485G= | |
14 | g.23420194C>G | CA389044085 | MYH7 | c.3377G>C (p.Arg1126Pro) n.3485G>C | gnomAD v4 |
14 | g.23420194C>T | CA257815799 | MYH7 | c.3377G>A (p.Arg1126His) n.3485G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23420195G>A | CA037156 | MYH7 | c.3376C>T (p.Arg1126Cys) n.3484C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23420195G>C | CA389044088 | MYH7 | c.3376C>G (p.Arg1126Gly) n.3484C>G | gnomAD v4 |
14 | g.23420195G= | CA2123447170 | MYH7 | c.3376C= (p.Arg1126=) n.3484C= | |
14 | g.23420195G>T | CA389044089 | MYH7 | c.3376C>A (p.Arg1126Ser) n.3484C>A | gnomAD v4 |
14 | g.23420196C>A | CA389044092 | MYH7 | c.3375G>T (p.Glu1125Asp) n.3483G>T | gnomAD v4 |
14 | g.23420196C= | CA2123447176 | MYH7 | c.3375G= (p.Glu1125=) n.3483G= | |
14 | g.23420196C>G | CA389044091 | MYH7 | c.3375G>C (p.Glu1125Asp) n.3483G>C | |
14 | g.23420196C>T | CA485621389 | MYH7 | c.3375G>A (p.Glu1125=) n.3483G>A | dbSNP gnomAD v4 |
14 | g.23420197T>A | CA389044094 | MYH7 | c.3374A>T (p.Glu1125Val) n.3482A>T | |
14 | g.23420197T>C | CA389044095 | MYH7 | c.3374A>G (p.Glu1125Gly) n.3482A>G | |
14 | g.23420197T>G | CA389044097 | MYH7 | c.3374A>C (p.Glu1125Ala) n.3482A>C | |
14 | g.23420198C>A | CA389044098 | MYH7 | c.3373G>T (p.Glu1125Ter) n.3481G>T | gnomAD v4 COSMIC |
14 | g.23420198C= | CA2123447182 | MYH7 | c.3373G= (p.Glu1125=) n.3481G= | |
14 | g.23420198C>G | CA013654 | MYH7 | c.3373G>C (p.Glu1125Gln) n.3481G>C | ClinVar dbSNP gnomAD v4 |
14 | g.23420198C>T | CA10587767 | MYH7 | c.3373G>A (p.Glu1125Lys) n.3481G>A | ClinVar dbSNP gnomAD v2 |
14 | g.23420199G>A | CA485621392 | MYH7 | c.3372C>T (p.Ala1124=) n.3480C>T | ClinVar dbSNP gnomAD v4 |
14 | g.23420199G>C | CA485621394 | MYH7 | c.3372C>G (p.Ala1124=) n.3480C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23420199G= | CA2123447192 | MYH7 | c.3372C= (p.Ala1124=) n.3480C= | |
14 | g.23420199G>T | CA485621393 | MYH7 | c.3372C>A (p.Ala1124=) n.3480C>A | gnomAD v4 |
14 | g.23420200G>A | CA389044101 | MYH7 | c.3371C>T (p.Ala1124Val) n.3479C>T | ClinVar gnomAD v4 |
14 | g.23420200G>C | CA389044104 | MYH7 | c.3371C>G (p.Ala1124Gly) n.3479C>G | |
14 | g.23420200G= | CA2123447208 | MYH7 | c.3371C= (p.Ala1124=) n.3479C= | |
14 | g.23420200G>T | CA389044103 | MYH7 | c.3371C>A (p.Ala1124Asp) n.3479C>A | |
14 | g.23420200_23420211dup | CA658658245 | MYH7 | c.3360_3371dup (p.Ala1124_Glu1125insGluLeuGluAla) n.3468_3479dup | ClinVar dbSNP |
14 | g.23420201C>A | CA013644 | MYH7 | c.3370G>T (p.Ala1124Ser) n.3478G>T | ClinVar dbSNP |
14 | g.23420201C= | CA2123447223 | MYH7 | c.3370G= (p.Ala1124=) n.3478G= | |
14 | g.23420201C>G | CA389044106 | MYH7 | c.3370G>C (p.Ala1124Pro) n.3478G>C | |
14 | g.23420201C>T | CA389044108 | MYH7 | c.3370G>A (p.Ala1124Thr) n.3478G>A | dbSNP gnomAD v2 |
14 | g.23420214_23420225dup | CA16614085 | MYH7 | c.3359_3370dup (p.Glu1123_Ala1124insGluGluLeuGlu) n.3467_3478dup | ClinVar dbSNP |
14 | g.23420202C>A | CA389044109 | MYH7 | c.3369G>T (p.Glu1123Asp) n.3477G>T | |
14 | g.23420202C>G | CA389044111 | MYH7 | c.3369G>C (p.Glu1123Asp) n.3477G>C | |
14 | g.23420202C>T | CA485621396 | MYH7 | c.3369G>A (p.Glu1123=) n.3477G>A | |
14 | g.23420203T>A | CA389044112 | MYH7 | c.3368A>T (p.Glu1123Val) n.3476A>T | |
14 | g.23420203T>C | CA389044114 | MYH7 | c.3368A>G (p.Glu1123Gly) n.3476A>G | |
14 | g.23420203T>G | CA389044116 | MYH7 | c.3368A>C (p.Glu1123Ala) n.3476A>C | ClinVar |
14 | g.23420204C>A | CA389044117 | MYH7 | c.3367G>T (p.Glu1123Ter) n.3475G>T | |
14 | g.23420204C= | CA2123447231 | MYH7 | c.3367G= (p.Glu1123=) n.3475G= | |
14 | g.23420204C>G | CA389044118 | MYH7 | c.3367G>C (p.Glu1123Gln) n.3475G>C | ClinVar dbSNP |
14 | g.23420204C>T | CA037148 | MYH7 | c.3367G>A (p.Glu1123Lys) n.3475G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23420205C>A | CA485621398 | MYH7 | c.3366G>T (p.Leu1122=) n.3474G>T | |
14 | g.23420205C>G | CA485621399 | MYH7 | c.3366G>C (p.Leu1122=) n.3474G>C | |
14 | g.23420205C>T | CA485621401 | MYH7 | c.3366G>A (p.Leu1122=) n.3474G>A | gnomAD v4 |
14 | g.23420206A>C | CA389044124 | MYH7 | c.3365T>G (p.Leu1122Arg) n.3473T>G | |
14 | g.23420206A>G | CA389044122 | MYH7 | c.3365T>C (p.Leu1122Pro) n.3473T>C | |
14 | g.23420206A>T | CA389044121 | MYH7 | c.3365T>A (p.Leu1122Gln) n.3473T>A | |
14 | g.23420207G>A | CA485621404 | MYH7 | c.3364C>T (p.Leu1122=) n.3472C>T | ClinVar dbSNP |
14 | g.23420207G>C | CA389044125 | MYH7 | c.3364C>G (p.Leu1122Val) n.3472C>G | |
14 | g.23420207G>T | CA389044126 | MYH7 | c.3364C>A (p.Leu1122Met) n.3472C>A | |
14 | g.23420208C>A | CA389044128 | MYH7 | c.3363G>T (p.Glu1121Asp) n.3471G>T | |
14 | g.23420208C= | CA2123447237 | MYH7 | c.3363G= (p.Glu1121=) n.3471G= | |
14 | g.23420208C>G | CA10602713 | MYH7 | c.3363G>C (p.Glu1121Asp) n.3471G>C | ClinVar dbSNP gnomAD v4 |
14 | g.23420208C>T | CA485621405 | MYH7 | c.3363G>A (p.Glu1121=) n.3471G>A | ClinVar |
14 | g.23420209T>A | CA389044134 | MYH7 | c.3362A>T (p.Glu1121Val) n.3470A>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23420209T>C | CA389044135 | MYH7 | c.3362A>G (p.Glu1121Gly) n.3470A>G | |
14 | g.23420209T>G | CA389044137 | MYH7 | c.3362A>C (p.Glu1121Ala) n.3470A>C | |
14 | g.23420209T= | CA2123447244 | MYH7 | c.3362A= (p.Glu1121=) n.3470A= | |
14 | g.23420210C>A | CA389044144 | MYH7 | c.3361G>T (p.Glu1121Ter) n.3469G>T | |
14 | g.23420210C>G | CA389044139 | MYH7 | c.3361G>C (p.Glu1121Gln) n.3469G>C | |
14 | g.23420210C>T | CA389044142 | MYH7 | c.3361G>A (p.Glu1121Lys) n.3469G>A | gnomAD v4 |
14 | g.23420211C>A | CA389044145 | MYH7 | c.3360G>T (p.Glu1120Asp) n.3468G>T | |
14 | g.23420211C>G | CA389044147 | MYH7 | c.3360G>C (p.Glu1120Asp) n.3468G>C | |
14 | g.23420211C>T | CA485621411 | MYH7 | c.3360G>A (p.Glu1120=) n.3468G>A | |
14 | g.23420212T>A | CA389044148 | MYH7 | c.3359A>T (p.Glu1120Val) n.3467A>T | |
14 | g.23420212T>C | CA389044150 | MYH7 | c.3359A>G (p.Glu1120Gly) n.3467A>G | gnomAD v4 |
14 | g.23420212T>G | CA389044152 | MYH7 | c.3359A>C (p.Glu1120Ala) n.3467A>C | ClinVar gnomAD v4 |
14 | g.23420213C>A | CA389044155 | MYH7 | c.3358G>T (p.Glu1120Ter) n.3466G>T | gnomAD v4 |
14 | g.23420213C= | CA2123447252 | MYH7 | c.3358G= (p.Glu1120=) n.3466G= | |
14 | g.23420213C>G | CA389044154 | MYH7 | c.3358G>C (p.Glu1120Gln) n.3466G>C | |
14 | g.23420213C>T | CA279329 | MYH7 | c.3358G>A (p.Glu1120Lys) n.3466G>A | ClinVar dbSNP |
14 | g.23420214C>A | CA389044157 | MYH7 | c.3357G>T (p.Glu1119Asp) n.3465G>T | gnomAD v4 |
14 | g.23420214C>G | CA389044159 | MYH7 | c.3357G>C (p.Glu1119Asp) n.3465G>C | ClinVar dbSNP gnomAD v4 |
14 | g.23420214C>T | CA485621412 | MYH7 | c.3357G>A (p.Glu1119=) n.3465G>A | gnomAD v4 |
14 | g.23420215T>A | CA389044161 | MYH7 | c.3356A>T (p.Glu1119Val) n.3464A>T | |
14 | g.23420215T>C | CA389044162 | MYH7 | c.3356A>G (p.Glu1119Gly) n.3464A>G | gnomAD v4 |
14 | g.23420215T>G | CA389044163 | MYH7 | c.3356A>C (p.Glu1119Ala) n.3464A>C | gnomAD v4 |
14 | g.23420216C>A | CA389044166 | MYH7 | c.3355G>T (p.Glu1119Ter) n.3463G>T | gnomAD v4 |
14 | g.23420216C>G | CA389044167 | MYH7 | c.3355G>C (p.Glu1119Gln) n.3463G>C | gnomAD v4 |
14 | g.23420216C>T | CA389044169 | MYH7 | c.3355G>A (p.Glu1119Lys) n.3463G>A | COSMIC |