Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23425772C>A | CA16619852 | MYH7 | c.2209G>T (p.Asp737Tyr) n.2315G>T | ClinVar dbSNP |
14 | g.23425772C= | CA2123458427 | MYH7 | c.2209G= (p.Asp737=) n.2315G= | |
14 | g.23425772C>G | CA389048908 | MYH7 | c.2209G>C (p.Asp737His) n.2315G>C | |
14 | g.23425772C>T | CA389048907 | MYH7 | c.2209G>A (p.Asp737Asn) n.2315G>A | |
14 | g.23425772_23425779del | CA2624230353 | MYH7 | c.2202_2209del (p.Phe735Ter) n.2308_2315del | gnomAD v4 |
14 | g.23425773A= | CA2123458433 | MYH7 | c.2208T= (p.Ile736=) n.2314T= | |
14 | g.23425773A>C | CA389048909 | MYH7 | c.2208T>G (p.Ile736Met) n.2314T>G | gnomAD v4 |
14 | g.23425773A>G | CA031791 | MYH7 | c.2208T>C (p.Ile736=) n.2314T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23425773A>T | CA485766978 | MYH7 | c.2208T>A (p.Ile736=) n.2314T>A | dbSNP |
14 | g.23425774A= | CA2123458449 | MYH7 | c.2207T= (p.Ile736=) n.2313T= | |
14 | g.23425774A>C | CA389048910 | MYH7 | c.2207T>G (p.Ile736Ser) n.2313T>G | |
14 | g.23425774A>G | CA011970 | MYH7 | c.2207T>C (p.Ile736Thr) n.2313T>C | ClinVar dbSNP |
14 | g.23425774A>T | CA011964 | MYH7 | c.2207T>A (p.Ile736Asn) n.2313T>A | ClinVar dbSNP |
14 | g.23425775T>A | CA389048912 | MYH7 | c.2206A>T (p.Ile736Phe) n.2312A>T | ClinVar dbSNP |
14 | g.23425775T>C | CA011954 | MYH7 | c.2206A>G (p.Ile736Val) n.2312A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23425775T>G | CA389048911 | MYH7 | c.2206A>C (p.Ile736Leu) n.2312A>C | |
14 | g.23425775T= | CA2123458460 | MYH7 | c.2206A= (p.Ile736=) n.2312A= | |
14 | g.23425776G>A | CA485766981 | MYH7 | c.2205C>T (p.Phe735=) n.2311C>T | gnomAD v4 |
14 | g.23425776G>C | CA389048913 | MYH7 | c.2205C>G (p.Phe735Leu) n.2311C>G | ClinVar |
14 | g.23425776G>T | CA389048914 | MYH7 | c.2205C>A (p.Phe735Leu) n.2311C>A | |
14 | g.23425777A>C | CA389048915 | MYH7 | c.2204T>G (p.Phe735Cys) n.2310T>G | |
14 | g.23425777A>G | CA389048916 | MYH7 | c.2204T>C (p.Phe735Ser) n.2310T>C | |
14 | g.23425777A>T | CA389048917 | MYH7 | c.2204T>A (p.Phe735Tyr) n.2310T>A | |
14 | g.23425778A= | CA2123458464 | MYH7 | c.2203T= (p.Phe735=) n.2309T= | |
14 | g.23425778A>C | CA389048918 | MYH7 | c.2203T>G (p.Phe735Val) n.2309T>G | |
14 | g.23425778A>G | CA16614410 | MYH7 | c.2203T>C (p.Phe735Leu) n.2309T>C | ClinVar dbSNP |
14 | g.23425778A>T | CA389048919 | MYH7 | c.2203T>A (p.Phe735Ile) n.2309T>A | |
14 | g.23425779C>A | CA389048920 | MYH7 | c.2202G>T (p.Gln734His) n.2308G>T | |
14 | g.23425779C= | CA2123458466 | MYH7 | c.2202G= (p.Gln734=) n.2308G= | |
14 | g.23425779C>G | CA389048921 | MYH7 | c.2202G>C (p.Gln734His) n.2308G>C | |
14 | g.23425779C>T | CA485766986 | MYH7 | c.2202G>A (p.Gln734=) n.2308G>A | dbSNP gnomAD v4 |
14 | g.23425780T>A | CA389048922 | MYH7 | c.2201A>T (p.Gln734Leu) n.2307A>T | ClinVar |
14 | g.23425780T>C | CA389048923 | MYH7 | c.2201A>G (p.Gln734Arg) n.2307A>G | |
14 | g.23425780T>G | CA279297 | MYH7 | c.2201A>C (p.Gln734Pro) n.2307A>C | ClinVar dbSNP |
14 | g.23425780T= | CA2123458475 | MYH7 | c.2201A= (p.Gln734=) n.2307A= | |
14 | g.23425780dup | CA915947000 | MYH7 | c.2201dup (p.Phe735ValfsTer3) n.2307dup | ClinVar dbSNP gnomAD v4 |
14 | g.23425781G>A | CA389048924 | MYH7 | c.2200C>T (p.Gln734Ter) n.2306C>T | |
14 | g.23425781G>C | CA389048925 | MYH7 | c.2200C>G (p.Gln734Glu) n.2306C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23425781G= | CA2123458489 | MYH7 | c.2200C= (p.Gln734=) n.2306C= | |
14 | g.23425781G>T | CA389048926 | MYH7 | c.2200C>A (p.Gln734Lys) n.2306C>A | |
14 | g.23425781_23425783dup | CA011944 | MYH7 | c.2198_2200dup (p.Gly733_Gln734insArg) n.2304_2306dup | ClinVar dbSNP |
14 | g.23425782T>A | CA485766992 | MYH7 | c.2199A>T (p.Gly733=) n.2305A>T | ClinVar dbSNP gnomAD v4 |
14 | g.23425782T>C | CA485766993 | MYH7 | c.2199A>G (p.Gly733=) n.2305A>G | dbSNP |
14 | g.23425782T>G | CA485766995 | MYH7 | c.2199A>C (p.Gly733=) n.2305A>C | dbSNP |
14 | g.23425782T= | CA2123458498 | MYH7 | c.2199A= (p.Gly733=) n.2305A= | |
14 | g.23425783C>A | CA011936 | MYH7 | c.2198G>T (p.Gly733Val) n.2304G>T | ClinVar dbSNP |
14 | g.23425783C= | CA2123458503 | MYH7 | c.2198G= (p.Gly733=) n.2304G= | |
14 | g.23425783C>G | CA389048927 | MYH7 | c.2198G>C (p.Gly733Ala) n.2304G>C | |
14 | g.23425783C>T | CA011928 | MYH7 | c.2198G>A (p.Gly733Glu) n.2304G>A | ClinVar dbSNP |
14 | g.23425784C>A | CA389048930 | MYH7 | c.2197G>T (p.Gly733Ter) n.2303G>T |