UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23425987G>A | CA485766839 | MYH7 | c.2139C>T (p.Ile713=) n.2245C>T | dbSNP gnomAD v4 |
| 14 | g.23425987G>C | CA389049049 | MYH7 | c.2139C>G (p.Ile713Met) n.2245C>G | ClinVar |
| 14 | g.23425987G= | CA2123459188 | MYH7 | c.2139C= (p.Ile713=) n.2245C= | |
| 14 | g.23425987G>T | CA485766840 | MYH7 | c.2139C>A (p.Ile713=) n.2245C>A | |
| 14 | g.23425987_23425988delinsGA | CA2123459186 | MYH7 | c.2138_2139delinsTC (p.Ile713=) n.2244_2245delinsTC | |
| 14 | g.23425987_23425988delinsTC | CA011765 | MYH7 | c.2138_2139delinsGA (p.Ile713Arg) n.2244_2245delinsGA | ClinVar dbSNP |
| 14 | g.23425988A>C | CA389049050 | MYH7 | c.2138T>G (p.Ile713Ser) n.2244T>G | |
| 14 | g.23425988A>G | CA389049051 | MYH7 | c.2138T>C (p.Ile713Thr) n.2244T>C | |
| 14 | g.23425988A>T | CA389049052 | MYH7 | c.2138T>A (p.Ile713Asn) n.2244T>A | |
| 14 | g.23425989T>A | CA389049053 | MYH7 | c.2137A>T (p.Ile713Phe) n.2243A>T | |
| 14 | g.23425989T>C | CA389049054 | MYH7 | c.2137A>G (p.Ile713Val) n.2243A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23425989T>G | CA389049055 | MYH7 | c.2137A>C (p.Ile713Leu) n.2243A>C | |
| 14 | g.23425989T= | CA2123459196 | MYH7 | c.2137A= (p.Ile713=) n.2243A= | |
| 14 | g.23425990G>A | CA485766845 | MYH7 | c.2136C>T (p.Arg712=) n.2242C>T | ClinVar |
| 14 | g.23425990G>C | CA485766846 | MYH7 | c.2136C>G (p.Arg712=) n.2242C>G | |
| 14 | g.23425990G>T | CA485766847 | MYH7 | c.2136C>A (p.Arg712=) n.2242C>A | gnomAD v4 |
| 14 | g.23425991C>A | CA389049056 | MYH7 | c.2135G>T (p.Arg712Leu) n.2241G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23425991C= | CA2123459206 | MYH7 | c.2135G= (p.Arg712=) n.2241G= | |
| 14 | g.23425991C>G | CA389049057 | MYH7 | c.2135G>C (p.Arg712Pro) n.2241G>C | |
| 14 | g.23425991C>T | CA389049058 | MYH7 | c.2135G>A (p.Arg712His) n.2241G>A | ClinVar dbSNP COSMIC |
| 14 | g.23425992G>A | CA031270 | MYH7 | c.2134C>T (p.Arg712Cys) n.2240C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23425992G>C | CA389049060 | MYH7 | c.2134C>G (p.Arg712Gly) n.2240C>G | ClinVar dbSNP |
| 14 | g.23425992G= | CA2123459219 | MYH7 | c.2134C= (p.Arg712=) n.2240C= | |
| 14 | g.23425992G>T | CA389049059 | MYH7 | c.2134C>A (p.Arg712Ser) n.2240C>A | ClinVar dbSNP |
| 14 | g.23425993G>A | CA485766850 | MYH7 | c.2133C>T (p.Asn711=) n.2239C>T | gnomAD v4 |
| 14 | g.23425993G>C | CA389049061 | MYH7 | c.2133C>G (p.Asn711Lys) n.2239C>G | |
| 14 | g.23425993G= | CA2123459225 | MYH7 | c.2133C= (p.Asn711=) n.2239C= | |
| 14 | g.23425993G>T | CA389049062 | MYH7 | c.2133C>A (p.Asn711Lys) n.2239C>A | dbSNP |
| 14 | g.23425994T>A | CA389049063 | MYH7 | c.2132A>T (p.Asn711Ile) n.2238A>T | |
| 14 | g.23425994T>C | CA389049064 | MYH7 | c.2132A>G (p.Asn711Ser) n.2238A>G | |
| 14 | g.23425994T>G | CA389049065 | MYH7 | c.2132A>C (p.Asn711Thr) n.2238A>C | ClinVar |
| 14 | g.23425995T>A | CA389049066 | MYH7 | c.2131A>T (p.Asn711Tyr) n.2237A>T | |
| 14 | g.23425995T>C | CA389049067 | MYH7 | c.2131A>G (p.Asn711Asp) n.2237A>G | |
| 14 | g.23425995T>G | CA389049068 | MYH7 | c.2131A>C (p.Asn711His) n.2237A>C | |
| 14 | g.23425996G>A | CA485766856 | MYH7 | c.2130C>T (p.Pro710=) n.2236C>T | |
| 14 | g.23425996G>C | CA485766855 | MYH7 | c.2130C>G (p.Pro710=) n.2236C>G | |
| 14 | g.23425996G>T | CA485766854 | MYH7 | c.2130C>A (p.Pro710=) n.2236C>A | |
| 14 | g.23425997G>A | CA011756 | MYH7 | c.2129C>T (p.Pro710Leu) n.2235C>T | ClinVar dbSNP |
| 14 | g.23425997G>C | CA389049069 | MYH7 | c.2129C>G (p.Pro710Arg) n.2235C>G | |
| 14 | g.23425997G= | CA2123459230 | MYH7 | c.2129C= (p.Pro710=) n.2235C= | |
| 14 | g.23425997G>T | CA011747 | MYH7 | c.2129C>A (p.Pro710His) n.2235C>A | ClinVar dbSNP |
| 14 | g.23425998G>A | CA389049072 | MYH7 | c.2128C>T (p.Pro710Ser) n.2234C>T | ClinVar |
| 14 | g.23425998G>C | CA389049071 | MYH7 | c.2128C>G (p.Pro710Ala) n.2234C>G | ClinVar dbSNP |
| 14 | g.23425998G>T | CA389049070 | MYH7 | c.2128C>A (p.Pro710Thr) n.2234C>A | |
| 14 | g.23425999G>A | CA485766860 | MYH7 | c.2127C>T (p.Phe709=) n.2233C>T | gnomAD v4 |
| 14 | g.23425999G>C | CA389049073 | MYH7 | c.2127C>G (p.Phe709Leu) n.2233C>G | |
| 14 | g.23425999G>T | CA389049074 | MYH7 | c.2127C>A (p.Phe709Leu) n.2233C>A | |
| 14 | g.23426000A>C | CA389049075 | MYH7 | c.2126T>G (p.Phe709Cys) n.2232T>G | |
| 14 | g.23426000A>G | CA389049076 | MYH7 | c.2126T>C (p.Phe709Ser) n.2232T>C | |
| 14 | g.23426000A>T | CA389049077 | MYH7 | c.2126T>A (p.Phe709Tyr) n.2232T>A | |
| 14 | g.23426001A>C | CA389049078 | MYH7 | c.2125T>G (p.Phe709Val) n.2231T>G | |
| 14 | g.23426001A>G | CA389049079 | MYH7 | c.2125T>C (p.Phe709Leu) n.2231T>C | |
| 14 | g.23426001A>T | CA389049080 | MYH7 | c.2125T>A (p.Phe709Ile) n.2231T>A | |
| 14 | g.23426002G>A | CA485766867 | MYH7 | c.2124C>T (p.Gly708=) n.2230C>T | |
| 14 | g.23426002G>C | CA485766868 | MYH7 | c.2124C>G (p.Gly708=) n.2230C>G | |
| 14 | g.23426002G>T | CA485766870 | MYH7 | c.2124C>A (p.Gly708=) n.2230C>A | |
| 14 | g.23426003C>A | CA011739 | MYH7 | c.2123G>T (p.Gly708Val) n.2229G>T | ClinVar dbSNP |
| 14 | g.23426003C= | CA2123459234 | MYH7 | c.2123G= (p.Gly708=) n.2229G= | |
| 14 | g.23426003C>G | CA011730 | MYH7 | c.2123G>C (p.Gly708Ala) n.2229G>C | ClinVar dbSNP |
| 14 | g.23426003C>T | CA389049081 | MYH7 | c.2123G>A (p.Gly708Asp) n.2229G>A | gnomAD v4 |
| 14 | g.23426004C>A | CA389049084 | MYH7 | c.2122G>T (p.Gly708Cys) n.2228G>T | |
| 14 | g.23426004C>G | CA389049083 | MYH7 | c.2122G>C (p.Gly708Arg) n.2228G>C | |
| 14 | g.23426004C>T | CA389049082 | MYH7 | c.2122G>A (p.Gly708Ser) n.2228G>A | |
| 14 | g.23426005T>A | CA389049085 | MYH7 | c.2121A>T (p.Lys707Asn) n.2227A>T | |
| 14 | g.23426005T>C | CA485766875 | MYH7 | c.2121A>G (p.Lys707=) n.2227A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23426005T>G | CA389049086 | MYH7 | c.2121A>C (p.Lys707Asn) n.2227A>C | |
| 14 | g.23426005T= | CA2123459239 | MYH7 | c.2121A= (p.Lys707=) n.2227A= | |
| 14 | g.23426006T>A | CA389049087 | MYH7 | c.2120A>T (p.Lys707Ile) n.2226A>T | |
| 14 | g.23426006T>C | CA389049088 | MYH7 | c.2120A>G (p.Lys707Arg) n.2226A>G | |
| 14 | g.23426006T>G | CA389049089 | MYH7 | c.2120A>C (p.Lys707Thr) n.2226A>C | |
| 14 | g.23426007T>A | CA389049090 | MYH7 | c.2119A>T (p.Lys707Ter) n.2225A>T | |
| 14 | g.23426007T>C | CA389049091 | MYH7 | c.2119A>G (p.Lys707Glu) n.2225A>G | |
| 14 | g.23426007T>G | CA389049092 | MYH7 | c.2119A>C (p.Lys707Gln) n.2225A>C | |
| 14 | g.23426008C>A | CA257821089 | MYH7 | c.2118G>T (p.Arg706Ser) n.2224G>T | dbSNP |
| 14 | g.23426008C= | CA2123459246 | MYH7 | c.2118G= (p.Arg706=) n.2224G= | |
| 14 | g.23426008C>G | CA389049093 | MYH7 | c.2118G>C (p.Arg706Ser) n.2224G>C | |
| 14 | g.23426008C>T | CA485766882 | MYH7 | c.2118G>A (p.Arg706=) n.2224G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23426009C>A | CA389049094 | MYH7 | c.2117G>T (p.Arg706Met) n.2223G>T | |
| 14 | g.23426009C= | CA2123459254 | MYH7 | c.2117G= (p.Arg706=) n.2223G= | |
| 14 | g.23426009C>G | CA011712 | MYH7 | c.2117G>C (p.Arg706Thr) n.2223G>C | ClinVar dbSNP |
| 14 | g.23426009C>T | CA389049095 | MYH7 | c.2117G>A (p.Arg706Lys) n.2223G>A | |
| 14 | g.23426010T>A | CA389049096 | MYH7 | c.2116A>T (p.Arg706Trp) n.2222A>T | |
| 14 | g.23426010T>C | CA389049097 | MYH7 | c.2116A>G (p.Arg706Gly) n.2222A>G | |
| 14 | g.23426010T>G | CA485766885 | MYH7 | c.2116A>C (p.Arg706=) n.2222A>C | |
| 14 | g.23426011G>A | CA485766886 | MYH7 | c.2115C>T (p.Cys705=) n.2221C>T | |
| 14 | g.23426011G>C | CA389049098 | MYH7 | c.2115C>G (p.Cys705Trp) n.2221C>G | |
| 14 | g.23426011G>T | CA389049099 | MYH7 | c.2115C>A (p.Cys705Ter) n.2221C>A | |
| 14 | g.23426012C>A | CA389049100 | MYH7 | c.2114G>T (p.Cys705Phe) n.2220G>T | |
| 14 | g.23426012C= | CA2123459263 | MYH7 | c.2114G= (p.Cys705=) n.2220G= | |
| 14 | g.23426012C>G | CA389049101 | MYH7 | c.2114G>C (p.Cys705Ser) n.2220G>C | |
| 14 | g.23426012C>T | CA389049102 | MYH7 | c.2114G>A (p.Cys705Tyr) n.2220G>A | ClinVar dbSNP |
| 14 | g.23426013A>C | CA389049103 | MYH7 | c.2113T>G (p.Cys705Gly) n.2219T>G | |
| 14 | g.23426013A>G | CA389049104 | MYH7 | c.2113T>C (p.Cys705Arg) n.2219T>C | |
| 14 | g.23426013A>T | CA389049105 | MYH7 | c.2113T>A (p.Cys705Ser) n.2219T>A | |
| 14 | g.23426014G>A | CA485766893 | MYH7 | c.2112C>T (p.Ile704=) n.2218C>T | |
| 14 | g.23426014G>C | CA389049106 | MYH7 | c.2112C>G (p.Ile704Met) n.2218C>G | |
| 14 | g.23426014G>T | CA485766891 | MYH7 | c.2112C>A (p.Ile704=) n.2218C>A | |
| 14 | g.23426015A= | CA2123459266 | MYH7 | c.2111T= (p.Ile704=) n.2217T= | |
| 14 | g.23426015A>C | CA389049107 | MYH7 | c.2111T>G (p.Ile704Ser) n.2217T>G | |
| 14 | g.23426015A>G | CA389049108 | MYH7 | c.2111T>C (p.Ile704Thr) n.2217T>C | |
| 14 | g.23426015A>T | CA389049109 | MYH7 | c.2111T>A (p.Ile704Asn) n.2217T>A | ClinVar dbSNP |
| 14 | g.23426016T>A | CA389049110 | MYH7 | c.2110A>T (p.Ile704Phe) n.2216A>T | |
| 14 | g.23426016T>C | CA011705 | MYH7 | c.2110A>G (p.Ile704Val) n.2216A>G | ClinVar dbSNP |
| 14 | g.23426016T>G | CA389049111 | MYH7 | c.2110A>C (p.Ile704Leu) n.2216A>C | ClinVar |
| 14 | g.23426016T= | CA2123459272 | MYH7 | c.2110A= (p.Ile704=) n.2216A= | |
| 14 | g.23426017G>A | CA485766898 | MYH7 | c.2109C>T (p.Arg703=) n.2215C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23426017G>C | CA485766899 | MYH7 | c.2109C>G (p.Arg703=) n.2215C>G | |
| 14 | g.23426017G= | CA2123459274 | MYH7 | c.2109C= (p.Arg703=) n.2215C= | |
| 14 | g.23426017G>T | CA485766900 | MYH7 | c.2109C>A (p.Arg703=) n.2215C>A | |
| 14 | g.23426018C>A | CA389049112 | MYH7 | c.2108G>T (p.Arg703Leu) n.2214G>T | |
| 14 | g.23426018C= | CA2123459286 | MYH7 | c.2108G= (p.Arg703=) n.2214G= | |
| 14 | g.23426018C>G | CA389049114 | MYH7 | c.2108G>C (p.Arg703Pro) n.2214G>C | |
| 14 | g.23426018C>T | CA389049113 | MYH7 | c.2108G>A (p.Arg703His) n.2214G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23426019G>A | CA031219 | MYH7 | c.2107C>T (p.Arg703Cys) n.2213C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23426019G>C | CA389049115 | MYH7 | c.2107C>G (p.Arg703Gly) n.2213C>G | |
| 14 | g.23426019G= | CA2123459290 | MYH7 | c.2107C= (p.Arg703=) n.2213C= | |
| 14 | g.23426019G>T | CA389049116 | MYH7 | c.2107C>A (p.Arg703Ser) n.2213C>A | |
| 14 | g.23426020del | CA2575486755 | MYH7 | c.2107del (p.Arg703AlafsTer23) n.2213del | gnomAD v4 |
| 14 | g.23426020G>A | CA485766903 | MYH7 | c.2106C>T (p.Ile702=) n.2212C>T | |
| 14 | g.23426020G>C | CA389049117 | MYH7 | c.2106C>G (p.Ile702Met) n.2212C>G | |
| 14 | g.23426020G= | CA2123459295 | MYH7 | c.2106C= (p.Ile702=) n.2212C= | |
| 14 | g.23426020G>T | CA485766904 | MYH7 | c.2106C>A (p.Ile702=) n.2212C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23426021A= | CA2123459305 | MYH7 | c.2105T= (p.Ile702=) n.2211T= | |
| 14 | g.23426021A>C | CA389049118 | MYH7 | c.2105T>G (p.Ile702Ser) n.2211T>G | |
| 14 | g.23426021A>G | CA389049119 | MYH7 | c.2105T>C (p.Ile702Thr) n.2211T>C | |
| 14 | g.23426021A>T | CA011696 | MYH7 | c.2105T>A (p.Ile702Asn) n.2211T>A | ClinVar dbSNP |
| 14 | g.23426022T>A | CA389049120 | MYH7 | c.2104A>T (p.Ile702Phe) n.2210A>T | |
| 14 | g.23426022T>C | CA279302 | MYH7 | c.2104A>G (p.Ile702Val) n.2210A>G | ClinVar dbSNP |
| 14 | g.23426022T>G | CA389049121 | MYH7 | c.2104A>C (p.Ile702Leu) n.2210A>C | |
| 14 | g.23426022T= | CA2123459312 | MYH7 | c.2104A= (p.Ile702=) n.2210A= | |
| 14 | g.23426023G>A | CA485766912 | MYH7 | c.2103C>T (p.Gly701=) n.2209C>T | |
| 14 | g.23426023G>C | CA485766913 | MYH7 | c.2103C>G (p.Gly701=) n.2209C>G | |
| 14 | g.23426023G>T | CA485766914 | MYH7 | c.2103C>A (p.Gly701=) n.2209C>A | COSMIC |
| 14 | g.23426024C>A | CA389049123 | MYH7 | c.2102G>T (p.Gly701Val) n.2208G>T | |
| 14 | g.23426024C>G | CA389049124 | MYH7 | c.2102G>C (p.Gly701Ala) n.2208G>C | |
| 14 | g.23426024C>T | CA389049122 | MYH7 | c.2102G>A (p.Gly701Asp) n.2208G>A | ClinVar |
| 14 | g.23426025C>A | CA389049125 | MYH7 | c.2101G>T (p.Gly701Cys) n.2207G>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23426025C= | CA2123459322 | MYH7 | c.2101G= (p.Gly701=) n.2207G= | |
| 14 | g.23426025C>G | CA389049126 | MYH7 | c.2101G>C (p.Gly701Arg) n.2207G>C | |
| 14 | g.23426025C>T | CA011689 | MYH7 | c.2101G>A (p.Gly701Ser) n.2207G>A | ClinVar dbSNP |
| 14 | g.23426026C>A | CA389049127 | MYH7 | c.2100G>T (p.Glu700Asp) n.2206G>T | |
| 14 | g.23426026C= | CA2123459331 | MYH7 | c.2100G= (p.Glu700=) n.2206G= | |
| 14 | g.23426026C>G | CA389049128 | MYH7 | c.2100G>C (p.Glu700Asp) n.2206G>C | |
| 14 | g.23426026C>T | CA031201 | MYH7 | c.2100G>A (p.Glu700=) n.2206G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23426027T>A | CA389049129 | MYH7 | c.2099A>T (p.Glu700Val) n.2205A>T | |
| 14 | g.23426027T>C | CA389049130 | MYH7 | c.2099A>G (p.Glu700Gly) n.2205A>G | ClinVar dbSNP |
| 14 | g.23426027T>G | CA389049131 | MYH7 | c.2099A>C (p.Glu700Ala) n.2205A>C | |
| 14 | g.23426027T= | CA2123459333 | MYH7 | c.2099A= (p.Glu700=) n.2205A= | |
| 14 | g.23426028C>A | CA389049132 | MYH7 | c.2098G>T (p.Glu700Ter) n.2204G>T | |
| 14 | g.23426028C= | CA2123459336 | MYH7 | c.2098G= (p.Glu700=) n.2204G= | |
| 14 | g.23426028C>G | CA389049133 | MYH7 | c.2098G>C (p.Glu700Gln) n.2204G>C | |
| 14 | g.23426028C>T | CA389049134 | MYH7 | c.2098G>A (p.Glu700Lys) n.2204G>A | |
| 14 | g.23426029C>A | CA485766920 | MYH7 | c.2097G>T (p.Leu699=) n.2203G>T | |
| 14 | g.23426029C= | CA2123459342 | MYH7 | c.2097G= (p.Leu699=) n.2203G= | |
| 14 | g.23426029C>G | CA485766921 | MYH7 | c.2097G>C (p.Leu699=) n.2203G>C | |
| 14 | g.23426029C>T | CA485766922 | MYH7 | c.2097G>A (p.Leu699=) n.2203G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23426033_23426045dup | CA704294509 | MYH7 | c.2085_2097dup (p.Glu700GlnfsTer?) n.2191_2203dup | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23426030A= | CA2123459346 | MYH7 | c.2096T= (p.Leu699=) n.2202T= | |
| 14 | g.23426030A>C | CA257821115 | MYH7 | c.2096T>G (p.Leu699Arg) n.2202T>G | dbSNP |
| 14 | g.23426030A>G | CA389049136 | MYH7 | c.2096T>C (p.Leu699Pro) n.2202T>C | |
| 14 | g.23426030A>T | CA389049135 | MYH7 | c.2096T>A (p.Leu699Gln) n.2202T>A | |
| 14 | g.23426031G>A | CA031161 | MYH7 | c.2095C>T (p.Leu699=) n.2201C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23426031G>C | CA389049137 | MYH7 | c.2095C>G (p.Leu699Val) n.2201C>G | |
| 14 | g.23426031G= | CA2123459349 | MYH7 | c.2095C= (p.Leu699=) n.2201C= | |
| 14 | g.23426031G>T | CA389049138 | MYH7 | c.2095C>A (p.Leu699Met) n.2201C>A | |
| 14 | g.23426032C>A | CA485766937 | MYH7 | c.2094G>T (p.Val698=) n.2200G>T | |
| 14 | g.23426032C= | CA2123459352 | MYH7 | c.2094G= (p.Val698=) n.2200G= | |
| 14 | g.23426032C>G | CA485766935 | MYH7 | c.2094G>C (p.Val698=) n.2200G>C | |
| 14 | g.23426032C>T | CA485766932 | MYH7 | c.2094G>A (p.Val698=) n.2200G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23426033A= | CA2123459359 | MYH7 | c.2093T= (p.Val698=) n.2199T= | |
| 14 | g.23426033A>C | CA389049139 | MYH7 | c.2093T>G (p.Val698Gly) n.2199T>G | |
| 14 | g.23426033A>G | CA011673 | MYH7 | c.2093T>C (p.Val698Ala) n.2199T>C | ClinVar dbSNP |
| 14 | g.23426033A>T | CA389049140 | MYH7 | c.2093T>A (p.Val698Glu) n.2199T>A | |
| 14 | g.23426034C>A | CA389049141 | MYH7 | c.2092G>T (p.Val698Leu) n.2198G>T | |
| 14 | g.23426034C= | CA2123459364 | MYH7 | c.2092G= (p.Val698=) n.2198G= | |
| 14 | g.23426034C>G | CA389049142 | MYH7 | c.2092G>C (p.Val698Leu) n.2198G>C | |
| 14 | g.23426034C>T | CA16042911 | MYH7 | c.2092G>A (p.Val698Met) n.2198G>A | ClinVar dbSNP |
| 14 | g.23426035A= | CA2123459368 | MYH7 | c.2091T= (p.Gly697=) n.2197T= | |
| 14 | g.23426035A>C | CA485766943 | MYH7 | c.2091T>G (p.Gly697=) n.2197T>G | |
| 14 | g.23426035A>G | CA011665 | MYH7 | c.2091T>C (p.Gly697=) n.2197T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23426035A>T | CA485766944 | MYH7 | c.2091T>A (p.Gly697=) n.2197T>A | |
| 14 | g.23426036C>A | CA389049143 | MYH7 | c.2090G>T (p.Gly697Val) n.2196G>T | |
| 14 | g.23426036C>G | CA389049144 | MYH7 | c.2090G>C (p.Gly697Ala) n.2196G>C | |
| 14 | g.23426036C>T | CA389049145 | MYH7 | c.2090G>A (p.Gly697Asp) n.2196G>A | COSMIC |
| 14 | g.23426037C>A | CA389049148 | MYH7 | c.2089G>T (p.Gly697Cys) n.2195G>T | gnomAD v4 |
| 14 | g.23426037C>G | CA389049147 | MYH7 | c.2089G>C (p.Gly697Arg) n.2195G>C | |
| 14 | g.23426037C>T | CA389049146 | MYH7 | c.2089G>A (p.Gly697Ser) n.2195G>A | |
| 14 | g.23426038A>C | CA389049149 | MYH7 | c.2088T>G (p.Asn696Lys) n.2194T>G | |
| 14 | g.23426038A>G | CA485766951 | MYH7 | c.2088T>C (p.Asn696=) n.2194T>C | |
| 14 | g.23426038A>T | CA389049150 | MYH7 | c.2088T>A (p.Asn696Lys) n.2194T>A | |
| 14 | g.23426038_23426041del | CA2800863038 | MYH7 | c.2085_2088del (p.Cys695TrpfsTer30) n.2191_2194del | |
| 14 | g.23426039T>A | CA389049151 | MYH7 | c.2087A>T (p.Asn696Ile) n.2193A>T | |
| 14 | g.23426039T>C | CA011651 | MYH7 | c.2087A>G (p.Asn696Ser) n.2193A>G | ClinVar dbSNP |
| 14 | g.23426039T>G | CA389049152 | MYH7 | c.2087A>C (p.Asn696Thr) n.2193A>C | |
| 14 | g.23426039T= | CA2123459375 | MYH7 | c.2087A= (p.Asn696=) n.2193A= | |
| 14 | g.23426040T>A | CA389049153 | MYH7 | c.2086A>T (p.Asn696Tyr) n.2192A>T | ClinVar dbSNP |
| 14 | g.23426040T>C | CA389049155 | MYH7 | c.2086A>G (p.Asn696Asp) n.2192A>G | |
| 14 | g.23426040T>G | CA389049154 | MYH7 | c.2086A>C (p.Asn696His) n.2192A>C | ClinVar |
| 14 | g.23426041G>A | CA485766953 | MYH7 | c.2085C>T (p.Cys695=) n.2191C>T | |
| 14 | g.23426041G>C | CA389049156 | MYH7 | c.2085C>G (p.Cys695Trp) n.2191C>G | |
| 14 | g.23426041G>T | CA389049157 | MYH7 | c.2085C>A (p.Cys695Ter) n.2191C>A | |
| 14 | g.23426042C>A | CA389049158 | MYH7 | c.2084G>T (p.Cys695Phe) n.2190G>T | |
| 14 | g.23426042C>G | CA389049159 | MYH7 | c.2084G>C (p.Cys695Ser) n.2190G>C | ClinVar dbSNP |
| 14 | g.23426042C>T | CA389049160 | MYH7 | c.2084G>A (p.Cys695Tyr) n.2190G>A | |
| 14 | g.23426043A>C | CA389049161 | MYH7 | c.2083T>G (p.Cys695Gly) n.2189T>G | |
| 14 | g.23426043A>G | CA389049162 | MYH7 | c.2083T>C (p.Cys695Arg) n.2189T>C | gnomAD v4 |
| 14 | g.23426043A>T | CA389049163 | MYH7 | c.2083T>A (p.Cys695Ser) n.2189T>A | |
| 14 | g.23426044G>A | CA485766956 | MYH7 | c.2082C>T (p.Arg694=) n.2188C>T | |
| 14 | g.23426044G>C | CA485766958 | MYH7 | c.2082C>G (p.Arg694=) n.2188C>G | |
| 14 | g.23426044G>T | CA485766959 | MYH7 | c.2082C>A (p.Arg694=) n.2188C>A | |
| 14 | g.23426045C>A | CA389049164 | MYH7 | c.2081G>T (p.Arg694Leu) n.2187G>T | |
| 14 | g.23426045C= | CA2123459383 | MYH7 | c.2081G= (p.Arg694=) n.2187G= | |
| 14 | g.23426045C>G | CA389049165 | MYH7 | c.2081G>C (p.Arg694Pro) n.2187G>C | |
| 14 | g.23426045C>T | CA10587775 | MYH7 | c.2081G>A (p.Arg694His) n.2187G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23426046G>A | CA011642 | MYH7 | c.2080C>T (p.Arg694Cys) n.2186C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23426046G>C | CA389049166 | MYH7 | c.2080C>G (p.Arg694Gly) n.2186C>G | |
| 14 | g.23426046G= | CA2123459410 | MYH7 | c.2080C= (p.Arg694=) n.2186C= | |
| 14 | g.23426046G>T | CA389049167 | MYH7 | c.2080C>A (p.Arg694Ser) n.2186C>A | |
| 14 | g.23426047C>A | CA485766966 | MYH7 | c.2079G>T (p.Leu693=) n.2185G>T | |
| 14 | g.23426047C>G | CA485766965 | MYH7 | c.2079G>C (p.Leu693=) n.2185G>C | |
| 14 | g.23426047C>T | CA485766963 | MYH7 | c.2079G>A (p.Leu693=) n.2185G>A | |
| 14 | g.23426048A>C | CA389049168 | MYH7 | c.2078T>G (p.Leu693Arg) n.2184T>G | |
| 14 | g.23426048A>G | CA389049169 | MYH7 | c.2078T>C (p.Leu693Pro) n.2184T>C | ClinVar dbSNP |
| 14 | g.23426048A>T | CA389049170 | MYH7 | c.2078T>A (p.Leu693Gln) n.2184T>A | |
| 14 | g.23426049G>A | CA485766968 | MYH7 | c.2077C>T (p.Leu693=) n.2183C>T | |
| 14 | g.23426049G>C | CA389049171 | MYH7 | c.2077C>G (p.Leu693Val) n.2183C>G | |
| 14 | g.23426049G>T | CA389049172 | MYH7 | c.2077C>A (p.Leu693Met) n.2183C>A | |
| 14 | g.23426050C>A | CA389049173 | MYH7 | c.2076G>T (p.Gln692His) n.2182G>T | |
| 14 | g.23426050C>G | CA389049174 | MYH7 | c.2076G>C (p.Gln692His) n.2182G>C | |
| 14 | g.23426050C>T | CA485766970 | MYH7 | c.2076G>A (p.Gln692=) n.2182G>A | |
| 14 | g.23426051T>A | CA389049175 | MYH7 | c.2075A>T (p.Gln692Leu) n.2181A>T | gnomAD v4 |
| 14 | g.23426051T>C | CA389049176 | MYH7 | c.2075A>G (p.Gln692Arg) n.2181A>G | |
| 14 | g.23426051T>G | CA389049177 | MYH7 | c.2075A>C (p.Gln692Pro) n.2181A>C | ClinVar |
| 14 | g.23426052G>A | CA389049179 | MYH7 | c.2074C>T (p.Gln692Ter) n.2180C>T | COSMIC |
| 14 | g.23426052G>C | CA389049180 | MYH7 | c.2074C>G (p.Gln692Glu) n.2180C>G | |
| 14 | g.23426052G>T | CA389049178 | MYH7 | c.2074C>A (p.Gln692Lys) n.2180C>A | ClinVar |
| 14 | g.23426053G>A | CA485766974 | MYH7 | c.2073C>T (p.His691=) n.2179C>T | ClinVar |
| 14 | g.23426053G>C | CA389049181 | MYH7 | c.2073C>G (p.His691Gln) n.2179C>G | |
| 14 | g.23426053G>T | CA389049182 | MYH7 | c.2073C>A (p.His691Gln) n.2179C>A | |
| 14 | g.23426054T>A | CA389049183 | MYH7 | c.2072A>T (p.His691Leu) n.2178A>T | |
| 14 | g.23426054T>C | CA389049184 | MYH7 | c.2072A>G (p.His691Arg) n.2178A>G | |
| 14 | g.23426054T>G | CA389049185 | MYH7 | c.2072A>C (p.His691Pro) n.2178A>C | |
| 14 | g.23426055G>A | CA389049188 | MYH7 | c.2071C>T (p.His691Tyr) n.2177C>T | |
| 14 | g.23426055G>C | CA389049187 | MYH7 | c.2071C>G (p.His691Asp) n.2177C>G | |
| 14 | g.23426055G>T | CA389049186 | MYH7 | c.2071C>A (p.His691Asn) n.2177C>A | |
| 14 | g.23426056C>A | CA389049189 | MYH7 | c.2070G>T (p.Met690Ile) n.2176G>T | |
| 14 | g.23426056C>G | CA389049190 | MYH7 | c.2070G>C (p.Met690Ile) n.2176G>C | |
| 14 | g.23426056C>T | CA389049191 | MYH7 | c.2070G>A (p.Met690Ile) n.2176G>A | |
| 14 | g.23426057A= | CA2123459424 | MYH7 | c.2069T= (p.Met690=) n.2175T= | |
| 14 | g.23426057A>C | CA389049192 | MYH7 | c.2069T>G (p.Met690Arg) n.2175T>G | |
| 14 | g.23426057A>G | CA011635 | MYH7 | c.2069T>C (p.Met690Thr) n.2175T>C | ClinVar dbSNP |
| 14 | g.23426057A>T | CA389049193 | MYH7 | c.2069T>A (p.Met690Lys) n.2175T>A | |
| 14 | g.23426058T>A | CA389049194 | MYH7 | c.2068A>T (p.Met690Leu) n.2174A>T | |
| 14 | g.23426058T>C | CA389049196 | MYH7 | c.2068A>G (p.Met690Val) n.2174A>G | |
| 14 | g.23426058T>G | CA389049195 | MYH7 | c.2068A>C (p.Met690Leu) n.2174A>C | |
| 14 | g.23426059G>A | CA485766982 | MYH7 | c.2067C>T (p.Val689=) n.2173C>T | |
| 14 | g.23426059G>C | CA485766983 | MYH7 | c.2067C>G (p.Val689=) n.2173C>G | |
| 14 | g.23426059G= | CA2123459428 | MYH7 | c.2067C= (p.Val689=) n.2173C= | |
| 14 | g.23426059G>T | CA485766984 | MYH7 | c.2067C>A (p.Val689=) n.2173C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23426060A>C | CA389049197 | MYH7 | c.2066T>G (p.Val689Gly) n.2172T>G | |
| 14 | g.23426060A>G | CA389049198 | MYH7 | c.2066T>C (p.Val689Ala) n.2172T>C | |
| 14 | g.23426060A>T | CA389049199 | MYH7 | c.2066T>A (p.Val689Asp) n.2172T>A | |
| 14 | g.23426061C>A | CA389049200 | MYH7 | c.2065G>T (p.Val689Phe) n.2171G>T | |
| 14 | g.23426061C= | CA2123459433 | MYH7 | c.2065G= (p.Val689=) n.2171G= | |
| 14 | g.23426061C>G | CA389049201 | MYH7 | c.2065G>C (p.Val689Leu) n.2171G>C | ClinVar dbSNP |
| 14 | g.23426061C>T | CA389049202 | MYH7 | c.2065G>A (p.Val689Ile) n.2171G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23426062C>A | CA485766989 | MYH7 | c.2064G>T (p.Leu688=) n.2170G>T | |
| 14 | g.23426062C>G | CA485766990 | MYH7 | c.2064G>C (p.Leu688=) n.2170G>C | |
| 14 | g.23426062C>T | CA485766991 | MYH7 | c.2064G>A (p.Leu688=) n.2170G>A | |
| 14 | g.23426062_23426063delinsCA | CA2123459437 | MYH7 | c.2063_2064delinsTG (p.Leu688=) n.2169_2170delinsTG | |
| 14 | g.23426063del | CA257821119 | MYH7 | c.2063del (p.Leu688ArgfsTer?) n.2169del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23426063A= | CA2123459444 | MYH7 | c.2063T= (p.Leu688=) n.2169T= | |
| 14 | g.23426063A>C | CA389049203 | MYH7 | c.2063T>G (p.Leu688Arg) n.2169T>G | |
| 14 | g.23426063A>G | CA011627 | MYH7 | c.2063T>C (p.Leu688Pro) n.2169T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23426063A>T | CA389049204 | MYH7 | c.2063T>A (p.Leu688Gln) n.2169T>A | |
| 14 | g.23426064G>A | CA485766994 | MYH7 | c.2062C>T (p.Leu688=) n.2168C>T | |
| 14 | g.23426064G>C | CA389049205 | MYH7 | c.2062C>G (p.Leu688Val) n.2168C>G | |
| 14 | g.23426064G>T | CA389049206 | MYH7 | c.2062C>A (p.Leu688Met) n.2168C>A | |
| 14 | g.23426065G>A | CA485766996 | MYH7 | c.2061C>T (p.Pro687=) n.2167C>T | |
| 14 | g.23426065G>C | CA485766997 | MYH7 | c.2061C>G (p.Pro687=) n.2167C>G | |
| 14 | g.23426065G>T | CA485766998 | MYH7 | c.2061C>A (p.Pro687=) n.2167C>A | |
| 14 | g.23426066G>A | CA389049208 | MYH7 | c.2060C>T (p.Pro687Leu) n.2166C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23426066G>C | CA389049207 | MYH7 | c.2060C>G (p.Pro687Arg) n.2166C>G | |
| 14 | g.23426066G= | CA2123459454 | MYH7 | c.2060C= (p.Pro687=) n.2166C= | |
| 14 | g.23426066G>T | CA031104 | MYH7 | c.2060C>A (p.Pro687His) n.2166C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23426067G>A | CA389049209 | MYH7 | c.2059C>T (p.Pro687Ser) n.2165C>T | gnomAD v4 |
| 14 | g.23426067G>C | CA389049210 | MYH7 | c.2059C>G (p.Pro687Ala) n.2165C>G | |
| 14 | g.23426067G= | CA2123459458 | MYH7 | c.2059C= (p.Pro687=) n.2165C= | |
| 14 | g.23426067G>T | CA257821126 | MYH7 | c.2059C>A (p.Pro687Thr) n.2165C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23426068G>A | CA485767004 | MYH7 | c.2058C>T (p.Asn686=) n.2164C>T | |
| 14 | g.23426068G>C | CA389049211 | MYH7 | c.2058C>G (p.Asn686Lys) n.2164C>G | |
| 14 | g.23426068G= | CA2123459463 | MYH7 | c.2058C= (p.Asn686=) n.2164C= | |
| 14 | g.23426068G>T | CA389049212 | MYH7 | c.2058C>A (p.Asn686Lys) n.2164C>A | dbSNP gnomAD v4 |
| 14 | g.23426069T>A | CA389049213 | MYH7 | c.2057A>T (p.Asn686Ile) n.2163A>T | |
| 14 | g.23426069T>C | CA389049214 | MYH7 | c.2057A>G (p.Asn686Ser) n.2163A>G | |
| 14 | g.23426069T>G | CA389049215 | MYH7 | c.2057A>C (p.Asn686Thr) n.2163A>C | |
| 14 | g.23426070T>A | CA389049216 | MYH7 | c.2056A>T (p.Asn686Tyr) n.2162A>T | |
| 14 | g.23426070T>C | CA389049217 | MYH7 | c.2056A>G (p.Asn686Asp) n.2162A>G | |
| 14 | g.23426070T>G | CA389049218 | MYH7 | c.2056A>C (p.Asn686His) n.2162A>C | |
| 14 | g.23426071G>A | CA485767008 | MYH7 | c.2055C>T (p.Asp685=) n.2161C>T | |
| 14 | g.23426071G>C | CA389049219 | MYH7 | c.2055C>G (p.Asp685Glu) n.2161C>G | |
| 14 | g.23426071G>T | CA389049220 | MYH7 | c.2055C>A (p.Asp685Glu) n.2161C>A | gnomAD v4 |
| 14 | g.23426072T>A | CA389049223 | MYH7 | c.2054A>T (p.Asp685Val) n.2160A>T | |
| 14 | g.23426072T>C | CA389049222 | MYH7 | c.2054A>G (p.Asp685Gly) n.2160A>G | gnomAD v4 |
| 14 | g.23426072T>G | CA389049221 | MYH7 | c.2054A>C (p.Asp685Ala) n.2160A>C | |
| 14 | g.23426072_23426073delinsTC | CA2123459469 | MYH7 | c.2053_2054delinsGA (p.Asp685=) n.2159_2160delinsGA | |
| 14 | g.23426073C>A | CA389049224 | MYH7 | c.2053G>T (p.Asp685Tyr) n.2159G>T | |
| 14 | g.23426073C>G | CA389049225 | MYH7 | c.2053G>C (p.Asp685His) n.2159G>C | |
| 14 | g.23426073C>T | CA389049226 | MYH7 | c.2053G>A (p.Asp685Asn) n.2159G>A | COSMIC |
| 14 | g.23426074del | CA891844299 | MYH7 | c.2053del (p.Asp685ThrfsTer?) n.2159del | ClinVar dbSNP gnomAD v4 |
| 14 | g.23426074C>A | CA389049227 | MYH7 | c.2052G>T (p.Met684Ile) n.2158G>T | |
| 14 | g.23426074C= | CA2123459475 | MYH7 | c.2052G= (p.Met684=) n.2158G= | |
| 14 | g.23426074C>G | CA389049228 | MYH7 | c.2052G>C (p.Met684Ile) n.2158G>C | |
| 14 | g.23426074C>T | CA011620 | MYH7 | c.2052G>A (p.Met684Ile) n.2158G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23426075A= | CA2123459482 | MYH7 | c.2051T= (p.Met684=) n.2157T= | |
| 14 | g.23426075A>C | CA011611 | MYH7 | c.2051T>G (p.Met684Arg) n.2157T>G | ClinVar dbSNP |
| 14 | g.23426075A>G | CA011603 | MYH7 | c.2051T>C (p.Met684Thr) n.2157T>C | ClinVar dbSNP |
| 14 | g.23426075A>T | CA389049229 | MYH7 | c.2051T>A (p.Met684Lys) n.2157T>A | |
| 14 | g.23426076T>A | CA389049230 | MYH7 | c.2050A>T (p.Met684Leu) n.2156A>T | |
| 14 | g.23426076T>C | CA16614414 | MYH7 | c.2050A>G (p.Met684Val) n.2156A>G | ClinVar dbSNP |
| 14 | g.23426076T>G | CA389049231 | MYH7 | c.2050A>C (p.Met684Leu) n.2156A>C | |
| 14 | g.23426076T= | CA2123459486 | MYH7 | c.2050A= (p.Met684=) n.2156A= | |
| 14 | g.23426077C>A | CA485767018 | MYH7 | c.2049G>T (p.Val683=) n.2155G>T | |
| 14 | g.23426077C>G | CA485767020 | MYH7 | c.2049G>C (p.Val683=) n.2155G>C | gnomAD v4 |
| 14 | g.23426077C>T | CA485767022 | MYH7 | c.2049G>A (p.Val683=) n.2155G>A | |
| 14 | g.23426078A>C | CA389049233 | MYH7 | c.2048T>G (p.Val683Gly) n.2154T>G | |
| 14 | g.23426078A>G | CA389049234 | MYH7 | c.2048T>C (p.Val683Ala) n.2154T>C | |
| 14 | g.23426078A>T | CA389049232 | MYH7 | c.2048T>A (p.Val683Glu) n.2154T>A | |
| 14 | g.23426079C>A | CA389049235 | MYH7 | c.2047G>T (p.Val683Leu) n.2153G>T | gnomAD v4 |
| 14 | g.23426079C= | CA2123459491 | MYH7 | c.2047G= (p.Val683=) n.2153G= | |
| 14 | g.23426079C>G | CA389049236 | MYH7 | c.2047G>C (p.Val683Leu) n.2153G>C | ClinVar dbSNP |
| 14 | g.23426079C>T | CA389049237 | MYH7 | c.2047G>A (p.Val683Met) n.2153G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23426080C>A | CA485767030 | MYH7 | c.2046G>T (p.Gly682=) n.2152G>T | |
| 14 | g.23426080C= | CA2123459493 | MYH7 | c.2046G= (p.Gly682=) n.2152G= | |
| 14 | g.23426080C>G | CA257821129 | MYH7 | c.2046G>C (p.Gly682=) n.2152G>C | dbSNP |
| 14 | g.23426080C>T | CA485767032 | MYH7 | c.2046G>A (p.Gly682=) n.2152G>A | |
| 14 | g.23426081C>A | CA389049238 | MYH7 | c.2045G>T (p.Gly682Val) n.2151G>T | |
| 14 | g.23426081C>G | CA389049239 | MYH7 | c.2045G>C (p.Gly682Ala) n.2151G>C | |
| 14 | g.23426081C>T | CA389049240 | MYH7 | c.2045G>A (p.Gly682Glu) n.2151G>A | gnomAD v4 |
| 14 | g.23426082C>A | CA389049241 | MYH7 | c.2045-1G>T (n.2045-1G>T) n.2151-1G>T | |
| 14 | g.23426082C>G | CA389049242 | MYH7 | c.2045-1G>C (n.2045-1G>C) n.2151-1G>C | |
| 14 | g.23426082C>T | CA389049243 | MYH7 | c.2045-1G>A (n.2045-1G>A) n.2151-1G>A | |
| 14 | g.23426083T>A | CA389049244 | MYH7 | c.2045-2A>T (n.2045-2A>T) n.2151-2A>T | |
| 14 | g.23426083T>C | CA389049245 | MYH7 | c.2045-2A>G (n.2045-2A>G) n.2151-2A>G | |
| 14 | g.23426083T>G | CA389049246 | MYH7 | c.2045-2A>C (n.2045-2A>C) n.2151-2A>C | |
| 14 | g.23426084G>C | CA2740097719 | MYH7 | c.2045-3C>G (n.2045-3C>G) n.2151-3C>G | ClinVar |
| 14 | g.23426084G= | CA2123459497 | MYH7 | c.2045-3C= (n.2045-3C=) n.2151-3C= | |
| 14 | g.23426084_23426085insGAGACTTTGTCTCATTAGGGATGATACAACGTACAAAGTGGGGATGGGTGGAGCGCAAGT | CA2800863051 | MYH7 | c.2045-4_2045-3insACTTGCGCTCCACCCATCCCCACTTTGTACGTTGTATCATCCCTAATGAGACAAAGTCTC (n.2045-4_2045-3insACTTGCGCTCCACCCATCCCCACTTTGTACGTTGTATCATCCCTAATGAGACAAAGTCTC) n.2151-4_2151-3insACTTGCGCTCCACCCATCCCCACTTTGTACGTTGTATCATCCCTAATGAGACAAAGTCTC | |
| 14 | g.23426085T>C | CA2499222593 | MYH7 | c.2045-4A>G (n.2045-4A>G) n.2151-4A>G | ClinVar dbSNP |
| 14 | g.23426086_23426087insATG | CA031053 | MYH7 | c.2045-4_2045-3insTCA (n.2045-4_2045-3insTCA) n.2151-4_2151-3insTCA | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23426086G>A | CA031078 | MYH7 | c.2045-5C>T (n.2045-5C>T) n.2151-5C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23426086G= | CA2123459498 | MYH7 | c.2045-5C= (n.2045-5C=) n.2151-5C= | |
| 14 | g.23426086G>T | CA2580088014 | MYH7 | c.2045-5C>A (n.2045-5C>A) n.2151-5C>A | ClinVar gnomAD v4 |
| 14 | g.23426087G>A | CA2800863054 | MYH7 | c.2045-6C>T (n.2045-6C>T) n.2151-6C>T | |
| 14 | g.23426087G>C | CA2697553859 | MYH7 | c.2045-6C>G (n.2045-6C>G) n.2151-6C>G | ClinVar |
| 14 | g.23426087G>T | CA2739271903 | MYH7 | c.2045-6C>A (n.2045-6C>A) n.2151-6C>A | ClinVar |