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.23382431_23382432del | CA2800863015 | MYH6 | c.5792_5793del (p.Ala1931GlufsTer7) n.1019_1020del | |
| 14 | g.23382432G>A | CA388981104 | MYH6 | c.5792C>T (p.Ala1931Val) n.1019C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23382432G>C | CA388981105 | MYH6 | c.5792C>G (p.Ala1931Gly) n.1019C>G | |
| 14 | g.23382432G= | CA2123408290 | MYH6 | c.5792C= (p.Ala1931=) n.1019C= | |
| 14 | g.23382432G>T | CA388981108 | MYH6 | c.5792C>A (p.Ala1931Asp) n.1019C>A | |
| 14 | g.23382433C>A | CA388981110 | MYH6 | c.5791G>T (p.Ala1931Ser) n.1018G>T | |
| 14 | g.23382433C= | CA2123408291 | MYH6 | c.5791G= (p.Ala1931=) n.1018G= | |
| 14 | g.23382433C>G | CA388981111 | MYH6 | c.5791G>C (p.Ala1931Pro) n.1018G>C | |
| 14 | g.23382433C>T | CA257775179 | MYH6 | c.5791G>A (p.Ala1931Thr) n.1018G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23382434A>C | CA485605483 | MYH6 | c.5790T>G (p.Gly1930=) n.1017T>G | |
| 14 | g.23382434A>G | CA485605481 | MYH6 | c.5790T>C (p.Gly1930=) n.1017T>C | |
| 14 | g.23382434A>T | CA485605482 | MYH6 | c.5790T>A (p.Gly1930=) n.1017T>A | |
| 14 | g.23382435C>A | CA388981116 | MYH6 | c.5789G>T (p.Gly1930Val) n.1016G>T | |
| 14 | g.23382435C= | CA2123408292 | MYH6 | c.5789G= (p.Gly1930=) n.1016G= | |
| 14 | g.23382435C>G | CA388981118 | MYH6 | c.5789G>C (p.Gly1930Ala) n.1016G>C | |
| 14 | g.23382435C>T | CA7114284 | MYH6 | c.5789G>A (p.Gly1930Asp) n.1016G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23382435_23382436insGGC | CA2800863017 | MYH6 | c.5789_5790insCCG (p.Gly1930_Ala1931insArg) n.1016_1017insCCG | |
| 14 | g.23382436C>A | CA388981128 | MYH6 | c.5788G>T (p.Gly1930Cys) n.1015G>T | gnomAD v4 |
| 14 | g.23382436C= | CA2123408293 | MYH6 | c.5788G= (p.Gly1930=) n.1015G= | |
| 14 | g.23382436C>G | CA7114285 | MYH6 | c.5788G>C (p.Gly1930Arg) n.1015G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23382436C>T | CA388981123 | MYH6 | c.5788G>A (p.Gly1930Ser) n.1015G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23382437A>C | CA388981130 | MYH6 | c.5787T>G (p.Ile1929Met) n.1014T>G | |
| 14 | g.23382437A>G | CA485605485 | MYH6 | c.5787T>C (p.Ile1929=) n.1014T>C | |
| 14 | g.23382437A>T | CA485605484 | MYH6 | c.5787T>A (p.Ile1929=) n.1014T>A | |
| 14 | g.23382438A= | CA2123408294 | MYH6 | c.5786T= (p.Ile1929=) n.1013T= | |
| 14 | g.23382438A>C | CA388981132 | MYH6 | c.5786T>G (p.Ile1929Ser) n.1013T>G | |
| 14 | g.23382438A>G | CA257775190 | MYH6 | c.5786T>C (p.Ile1929Thr) n.1013T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23382438A>T | CA388981135 | MYH6 | c.5786T>A (p.Ile1929Asn) n.1013T>A | |
| 14 | g.23382438_23382439del | CA2800863018 | MYH6 | c.5785_5786del (p.Ile1929TrpfsTer9) n.1012_1013del | |
| 14 | g.23382439T>A | CA388981137 | MYH6 | c.5785A>T (p.Ile1929Phe) n.1012A>T | |
| 14 | g.23382439T>C | CA388981140 | MYH6 | c.5785A>G (p.Ile1929Val) n.1012A>G | ClinVar dbSNP |
| 14 | g.23382439T>G | CA388981142 | MYH6 | c.5785A>C (p.Ile1929Leu) n.1012A>C | |
| 14 | g.23382439T= | CA2123408295 | MYH6 | c.5785A= (p.Ile1929=) n.1012A= | |
| 14 | g.23382440G>A | CA485605486 | MYH6 | c.5784C>T (p.Asp1928=) n.1011C>T | |
| 14 | g.23382440G>C | CA388981149 | MYH6 | c.5784C>G (p.Asp1928Glu) n.1011C>G | |
| 14 | g.23382440G>T | CA388981148 | MYH6 | c.5784C>A (p.Asp1928Glu) n.1011C>A | |
| 14 | g.23382441T>A | CA388981150 | MYH6 | c.5783A>T (p.Asp1928Val) n.1010A>T | |
| 14 | g.23382441T>C | CA388981151 | MYH6 | c.5783A>G (p.Asp1928Gly) n.1010A>G | |
| 14 | g.23382441T>G | CA388981153 | MYH6 | c.5783A>C (p.Asp1928Ala) n.1010A>C | dbSNP |
| 14 | g.23382441T= | CA2123408296 | MYH6 | c.5783A= (p.Asp1928=) n.1010A= | |
| 14 | g.23382442C>A | CA388981156 | MYH6 | c.5782G>T (p.Asp1928Tyr) n.1009G>T | |
| 14 | g.23382442C>G | CA388981160 | MYH6 | c.5782G>C (p.Asp1928His) n.1009G>C | |
| 14 | g.23382442C>T | CA388981163 | MYH6 | c.5782G>A (p.Asp1928Asn) n.1009G>A | ClinVar gnomAD v4 |
| 14 | g.23382443A>C | CA485605487 | MYH6 | c.5781T>G (p.Arg1927=) n.1008T>G | |
| 14 | g.23382443A>G | CA485605488 | MYH6 | c.5781T>C (p.Arg1927=) n.1008T>C | |
| 14 | g.23382443A>T | CA485605489 | MYH6 | c.5781T>A (p.Arg1927=) n.1008T>A | |
| 14 | g.23382444C>A | CA346495 | MYH6 | c.5780G>T (p.Arg1927Leu) n.1007G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23382444C= | CA2123408297 | MYH6 | c.5780G= (p.Arg1927=) n.1007G= | |
| 14 | g.23382444C>G | CA388981165 | MYH6 | c.5780G>C (p.Arg1927Pro) n.1007G>C | |
| 14 | g.23382444C>T | CA7114286 | MYH6 | c.5780G>A (p.Arg1927His) n.1007G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23382445G>A | CA388981171 | MYH6 | c.5779C>T (p.Arg1927Cys) n.1006C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23382445G>C | CA388981173 | MYH6 | c.5779C>G (p.Arg1927Gly) n.1006C>G | |
| 14 | g.23382445G= | CA2123408298 | MYH6 | c.5779C= (p.Arg1927=) n.1006C= | |
| 14 | g.23382445G>T | CA388981176 | MYH6 | c.5779C>A (p.Arg1927Ser) n.1006C>A | |
| 14 | g.23382446G>A | CA485605490 | MYH6 | c.5778C>T (p.Ser1926=) n.1005C>T | |
| 14 | g.23382446G>C | CA388981178 | MYH6 | c.5778C>G (p.Ser1926Arg) n.1005C>G | |
| 14 | g.23382446G>T | CA388981180 | MYH6 | c.5778C>A (p.Ser1926Arg) n.1005C>A | |
| 14 | g.23382447C>A | CA388981181 | MYH6 | c.5777G>T (p.Ser1926Ile) n.1004G>T | |
| 14 | g.23382447C>G | CA388981182 | MYH6 | c.5777G>C (p.Ser1926Thr) n.1004G>C | |
| 14 | g.23382447C>T | CA388981183 | MYH6 | c.5777G>A (p.Ser1926Asn) n.1004G>A | gnomAD v4 |
| 14 | g.23382448T>A | CA388981185 | MYH6 | c.5776A>T (p.Ser1926Cys) n.1003A>T | |
| 14 | g.23382448T>C | CA388981188 | MYH6 | c.5776A>G (p.Ser1926Gly) n.1003A>G | |
| 14 | g.23382448T>G | CA388981190 | MYH6 | c.5776A>C (p.Ser1926Arg) n.1003A>C | |
| 14 | g.23382449C>A | CA388981194 | MYH6 | c.5775G>T (p.Lys1925Asn) n.1002G>T | |
| 14 | g.23382449C>G | CA388981196 | MYH6 | c.5775G>C (p.Lys1925Asn) n.1002G>C | |
| 14 | g.23382449C>T | CA485605491 | MYH6 | c.5775G>A (p.Lys1925=) n.1002G>A | |
| 14 | g.23382450T>A | CA388981207 | MYH6 | c.5774A>T (p.Lys1925Met) n.1001A>T | |
| 14 | g.23382450T>C | CA388981199 | MYH6 | c.5774A>G (p.Lys1925Arg) n.1001A>G | |
| 14 | g.23382450T>G | CA388981201 | MYH6 | c.5774A>C (p.Lys1925Thr) n.1001A>C | |
| 14 | g.23382451T>A | CA388981210 | MYH6 | c.5773A>T (p.Lys1925Ter) n.1000A>T | |
| 14 | g.23382451T>C | CA388981213 | MYH6 | c.5773A>G (p.Lys1925Glu) n.1000A>G | |
| 14 | g.23382451T>G | CA388981215 | MYH6 | c.5773A>C (p.Lys1925Gln) n.1000A>C | |
| 14 | g.23382452G>A | CA485605492 | MYH6 | c.5772C>T (p.Ala1924=) n.999C>T | |
| 14 | g.23382452G>C | CA485605493 | MYH6 | c.5772C>G (p.Ala1924=) n.999C>G | |
| 14 | g.23382452G>T | CA485605494 | MYH6 | c.5772C>A (p.Ala1924=) n.999C>A | |
| 14 | g.23382453G>A | CA388981218 | MYH6 | c.5771C>T (p.Ala1924Val) n.998C>T | gnomAD v4 |
| 14 | g.23382453G>C | CA388981221 | MYH6 | c.5771C>G (p.Ala1924Gly) n.998C>G | |
| 14 | g.23382453G>T | CA388981223 | MYH6 | c.5771C>A (p.Ala1924Asp) n.998C>A | |
| 14 | g.23382454C>A | CA388981231 | MYH6 | c.5770G>T (p.Ala1924Ser) n.997G>T | COSMIC |
| 14 | g.23382454C>G | CA388981226 | MYH6 | c.5770G>C (p.Ala1924Pro) n.997G>C | gnomAD v4 |
| 14 | g.23382454C>T | CA388981229 | MYH6 | c.5770G>A (p.Ala1924Thr) n.997G>A | |
| 14 | g.23382455T>A | CA485605497 | MYH6 | c.5769A>T (p.Arg1923=) n.996A>T | |
| 14 | g.23382455T>C | CA485605496 | MYH6 | c.5769A>G (p.Arg1923=) n.996A>G | gnomAD v4 |
| 14 | g.23382455T>G | CA485605495 | MYH6 | c.5769A>C (p.Arg1923=) n.996A>C | |
| 14 | g.23382456C>A | CA388981233 | MYH6 | c.5768G>T (p.Arg1923Leu) n.995G>T | |
| 14 | g.23382456C= | CA2123408299 | MYH6 | c.5768G= (p.Arg1923=) n.995G= | |
| 14 | g.23382456C>G | CA388981236 | MYH6 | c.5768G>C (p.Arg1923Pro) n.995G>C | |
| 14 | g.23382456C>T | CA7114287 | MYH6 | c.5768G>A (p.Arg1923Gln) n.995G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23382457G>A | CA7114288 | MYH6 | c.5767C>T (p.Arg1923Ter) n.994C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23382457G>C | CA388981244 | MYH6 | c.5767C>G (p.Arg1923Gly) n.994C>G | |
| 14 | g.23382457G= | CA2123408300 | MYH6 | c.5767C= (p.Arg1923=) n.994C= | |
| 14 | g.23382457G>T | CA485605498 | MYH6 | c.5767C>A (p.Arg1923=) n.994C>A | |
| 14 | g.23382458A= | CA2123408301 | MYH6 | c.5766T= (p.Leu1922=) n.993T= | |
| 14 | g.23382458A>C | CA485605499 | MYH6 | c.5766T>G (p.Leu1922=) n.993T>G | |
| 14 | g.23382458A>G | CA485605500 | MYH6 | c.5766T>C (p.Leu1922=) n.993T>C | dbSNP gnomAD v4 |
| 14 | g.23382458A>T | CA485605501 | MYH6 | c.5766T>A (p.Leu1922=) n.993T>A | |
| 14 | g.23382459A>C | CA388981251 | MYH6 | c.5765T>G (p.Leu1922Arg) n.992T>G | |
| 14 | g.23382459A>G | CA388981247 | MYH6 | c.5765T>C (p.Leu1922Pro) n.992T>C | gnomAD v4 |
| 14 | g.23382459A>T | CA388981250 | MYH6 | c.5765T>A (p.Leu1922His) n.992T>A | |
| 14 | g.23382460G>A | CA388981253 | MYH6 | c.5764C>T (p.Leu1922Phe) n.991C>T | |
| 14 | g.23382460G>C | CA388981254 | MYH6 | c.5764C>G (p.Leu1922Val) n.991C>G | |
| 14 | g.23382460G>T | CA388981255 | MYH6 | c.5764C>A (p.Leu1922Ile) n.991C>A | COSMIC |
| 14 | g.23382461C>A | CA388981257 | MYH6 | c.5763G>T (p.Lys1921Asn) n.990G>T | |
| 14 | g.23382461C>G | CA388981258 | MYH6 | c.5763G>C (p.Lys1921Asn) n.990G>C | |
| 14 | g.23382461C>T | CA485605502 | MYH6 | c.5763G>A (p.Lys1921=) n.990G>A | gnomAD v4 |
| 14 | g.23382462T>A | CA388981262 | MYH6 | c.5762A>T (p.Lys1921Met) n.989A>T | |
| 14 | g.23382462T>C | CA388981265 | MYH6 | c.5762A>G (p.Lys1921Arg) n.989A>G | gnomAD v4 |
| 14 | g.23382462T>G | CA388981267 | MYH6 | c.5762A>C (p.Lys1921Thr) n.989A>C | |
| 14 | g.23382463T>A | CA388981272 | MYH6 | c.5761A>T (p.Lys1921Ter) n.988A>T | |
| 14 | g.23382463T>C | CA388981277 | MYH6 | c.5761A>G (p.Lys1921Glu) n.988A>G | |
| 14 | g.23382463T>G | CA388981281 | MYH6 | c.5761A>C (p.Lys1921Gln) n.988A>C | |
| 14 | g.23382464G>A | CA485605503 | MYH6 | c.5760C>T (p.Asn1920=) n.987C>T | gnomAD v4 |
| 14 | g.23382464G>C | CA388981282 | MYH6 | c.5760C>G (p.Asn1920Lys) n.987C>G | |
| 14 | g.23382464G>T | CA388981283 | MYH6 | c.5760C>A (p.Asn1920Lys) n.987C>A | dbSNP |
| 14 | g.23382465T>A | CA388981284 | MYH6 | c.5759A>T (p.Asn1920Ile) n.986A>T | |
| 14 | g.23382465T>C | CA257775203 | MYH6 | c.5759A>G (p.Asn1920Ser) n.986A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23382465T>G | CA388981287 | MYH6 | c.5759A>C (p.Asn1920Thr) n.986A>C | |
| 14 | g.23382465T= | CA2123408302 | MYH6 | c.5759A= (p.Asn1920=) n.986A= | |
| 14 | g.23382466T>A | CA388981295 | MYH6 | c.5758A>T (p.Asn1920Tyr) n.985A>T | |
| 14 | g.23382466T>C | CA388981300 | MYH6 | c.5758A>G (p.Asn1920Asp) n.985A>G | |
| 14 | g.23382466T>G | CA388981298 | MYH6 | c.5758A>C (p.Asn1920His) n.985A>C | |
| 14 | g.23382467G>A | CA485605504 | MYH6 | c.5757C>T (p.Val1919=) n.984C>T | |
| 14 | g.23382467G>C | CA485605505 | MYH6 | c.5757C>G (p.Val1919=) n.984C>G | |
| 14 | g.23382467G>T | CA485605506 | MYH6 | c.5757C>A (p.Val1919=) n.984C>A | |
| 14 | g.23382468A>C | CA388981304 | MYH6 | c.5756T>G (p.Val1919Gly) n.983T>G | |
| 14 | g.23382468A>G | CA388981311 | MYH6 | c.5756T>C (p.Val1919Ala) n.983T>C | |
| 14 | g.23382468A>T | CA388981329 | MYH6 | c.5756T>A (p.Val1919Asp) n.983T>A | |
| 14 | g.23382469C>A | CA388981332 | MYH6 | c.5755G>T (p.Val1919Phe) n.982G>T | |
| 14 | g.23382469C>G | CA388981335 | MYH6 | c.5755G>C (p.Val1919Leu) n.982G>C | |
| 14 | g.23382469C>T | CA388981337 | MYH6 | c.5755G>A (p.Val1919Ile) n.982G>A | gnomAD v4 |
| 14 | g.23382470C>A | CA388981347 | MYH6 | c.5754G>T (p.Gln1918His) n.981G>T | |
| 14 | g.23382470C>G | CA388981356 | MYH6 | c.5754G>C (p.Gln1918His) n.981G>C | gnomAD v4 |
| 14 | g.23382470C>T | CA485605507 | MYH6 | c.5754G>A (p.Gln1918=) n.981G>A | |
| 14 | g.23382471T>A | CA7114289 | MYH6 | c.5753A>T (p.Gln1918Leu) n.980A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23382471T>C | CA388981362 | MYH6 | c.5753A>G (p.Gln1918Arg) n.980A>G | |
| 14 | g.23382471T>G | CA388981365 | MYH6 | c.5753A>C (p.Gln1918Pro) n.980A>C | |
| 14 | g.23382471T= | CA2123408303 | MYH6 | c.5753A= (p.Gln1918=) n.980A= | |
| 14 | g.23382472G>A | CA388981385 | MYH6 | c.5752C>T (p.Gln1918Ter) n.979C>T | |
| 14 | g.23382472G>C | CA388981371 | MYH6 | c.5752C>G (p.Gln1918Glu) n.979C>G | gnomAD v4 |
| 14 | g.23382472G>T | CA388981378 | MYH6 | c.5752C>A (p.Gln1918Lys) n.979C>A | |
| 14 | g.23382473G>A | CA485605508 | MYH6 | c.5751C>T (p.Ser1917=) n.978C>T | COSMIC |
| 14 | g.23382473G>C | CA485605509 | MYH6 | c.5751C>G (p.Ser1917=) n.978C>G | |
| 14 | g.23382473G>T | CA485605510 | MYH6 | c.5751C>A (p.Ser1917=) n.978C>A | |
| 14 | g.23382474G>A | CA388981388 | MYH6 | c.5750C>T (p.Ser1917Phe) n.977C>T | |
| 14 | g.23382474G>C | CA388981391 | MYH6 | c.5750C>G (p.Ser1917Cys) n.977C>G | |
| 14 | g.23382474G>T | CA388981393 | MYH6 | c.5750C>A (p.Ser1917Tyr) n.977C>A | COSMIC |
| 14 | g.23382475A>C | CA388981396 | MYH6 | c.5749T>G (p.Ser1917Ala) n.976T>G | |
| 14 | g.23382475A>G | CA388981401 | MYH6 | c.5749T>C (p.Ser1917Pro) n.976T>C | |
| 14 | g.23382475A>T | CA388981405 | MYH6 | c.5749T>A (p.Ser1917Thr) n.976T>A | |
| 14 | g.23382476C>A | CA388981410 | MYH6 | c.5748G>T (p.Glu1916Asp) n.975G>T | COSMIC |
| 14 | g.23382476C= | CA2123408304 | MYH6 | c.5748G= (p.Glu1916=) n.975G= | |
| 14 | g.23382476C>G | CA388981413 | MYH6 | c.5748G>C (p.Glu1916Asp) n.975G>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23382476C>T | CA485605511 | MYH6 | c.5748G>A (p.Glu1916=) n.975G>A | gnomAD v4 |
| 14 | g.23382477T>A | CA388981417 | MYH6 | c.5747A>T (p.Glu1916Val) n.974A>T | |
| 14 | g.23382477T>C | CA388981420 | MYH6 | c.5747A>G (p.Glu1916Gly) n.974A>G | |
| 14 | g.23382477T>G | CA388981426 | MYH6 | c.5747A>C (p.Glu1916Ala) n.974A>C | |
| 14 | g.23382478C>A | CA388981435 | MYH6 | c.5746G>T (p.Glu1916Ter) n.973G>T | |
| 14 | g.23382478C= | CA2123408305 | MYH6 | c.5746G= (p.Glu1916=) n.973G= | |
| 14 | g.23382478C>G | CA388981437 | MYH6 | c.5746G>C (p.Glu1916Gln) n.973G>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23382478C>T | CA388981431 | MYH6 | c.5746G>A (p.Glu1916Lys) n.973G>A | |
| 14 | g.23382479A>C | CA485605512 | MYH6 | c.5745T>G (p.Ala1915=) n.972T>G | |
| 14 | g.23382479A>G | CA485605513 | MYH6 | c.5745T>C (p.Ala1915=) n.972T>C | gnomAD v4 |
| 14 | g.23382479A>T | CA485605514 | MYH6 | c.5745T>A (p.Ala1915=) n.972T>A | |
| 14 | g.23382480G>A | CA388981441 | MYH6 | c.5744C>T (p.Ala1915Val) n.971C>T | gnomAD v4 |
| 14 | g.23382480G>C | CA388981442 | MYH6 | c.5744C>G (p.Ala1915Gly) n.971C>G | |
| 14 | g.23382480G>T | CA388981446 | MYH6 | c.5744C>A (p.Ala1915Asp) n.971C>A | |
| 14 | g.23382481C>A | CA388981449 | MYH6 | c.5743G>T (p.Ala1915Ser) n.970G>T | |
| 14 | g.23382481C= | CA2123408306 | MYH6 | c.5743G= (p.Ala1915=) n.970G= | |
| 14 | g.23382481C>G | CA388981454 | MYH6 | c.5743G>C (p.Ala1915Pro) n.970G>C | |
| 14 | g.23382481C>T | CA7114290 | MYH6 | c.5743G>A (p.Ala1915Thr) n.970G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23382482G>A | CA7114291 | MYH6 | c.5742C>T (p.Ile1914=) n.969C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23382482G>C | CA388981461 | MYH6 | c.5742C>G (p.Ile1914Met) n.969C>G | |
| 14 | g.23382482G= | CA2123408307 | MYH6 | c.5742C= (p.Ile1914=) n.969C= | |
| 14 | g.23382482G>T | CA485605515 | MYH6 | c.5742C>A (p.Ile1914=) n.969C>A | |
| 14 | g.23382483A= | CA2123408308 | MYH6 | c.5741T= (p.Ile1914=) n.968T= | |
| 14 | g.23382483A>C | CA388981465 | MYH6 | c.5741T>G (p.Ile1914Ser) n.968T>G | |
| 14 | g.23382483A>G | CA388981468 | MYH6 | c.5741T>C (p.Ile1914Thr) n.968T>C | dbSNP gnomAD v4 |
| 14 | g.23382483A>T | CA388981469 | MYH6 | c.5741T>A (p.Ile1914Asn) n.968T>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23382484T>A | CA388981474 | MYH6 | c.5740A>T (p.Ile1914Phe) n.967A>T | gnomAD v4 |
| 14 | g.23382484T>C | CA388981476 | MYH6 | c.5740A>G (p.Ile1914Val) n.967A>G | |
| 14 | g.23382484T>G | CA388981479 | MYH6 | c.5740A>C (p.Ile1914Leu) n.967A>C | |
| 14 | g.23382485G>A | CA485605516 | MYH6 | c.5739C>T (p.Asp1913=) n.966C>T | |
| 14 | g.23382485G>C | CA388981482 | MYH6 | c.5739C>G (p.Asp1913Glu) n.966C>G | |
| 14 | g.23382485G>T | CA388981484 | MYH6 | c.5739C>A (p.Asp1913Glu) n.966C>A | |
| 14 | g.23382486T>A | CA388981488 | MYH6 | c.5738A>T (p.Asp1913Val) n.965A>T | |
| 14 | g.23382486T>C | CA388981493 | MYH6 | c.5738A>G (p.Asp1913Gly) n.965A>G | |
| 14 | g.23382486T>G | CA388981496 | MYH6 | c.5738A>C (p.Asp1913Ala) n.965A>C | |
| 14 | g.23382487C>A | CA388981499 | MYH6 | c.5737G>T (p.Asp1913Tyr) n.964G>T | |
| 14 | g.23382487C= | CA2123408309 | MYH6 | c.5737G= (p.Asp1913=) n.964G= | |
| 14 | g.23382487C>G | CA388981501 | MYH6 | c.5737G>C (p.Asp1913His) n.964G>C | |
| 14 | g.23382487C>T | CA388981503 | MYH6 | c.5737G>A (p.Asp1913Asn) n.964G>A | ClinVar dbSNP |
| 14 | g.23382488C>A | CA485605517 | MYH6 | c.5736G>T (p.Ala1912=) n.963G>T | |
| 14 | g.23382488C= | CA2123408310 | MYH6 | c.5736G= (p.Ala1912=) n.963G= | |
| 14 | g.23382488C>G | CA485605518 | MYH6 | c.5736G>C (p.Ala1912=) n.963G>C | dbSNP |
| 14 | g.23382488C>T | CA7114292 | MYH6 | c.5736G>A (p.Ala1912=) n.963G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23382489G>A | CA183526 | MYH6 | c.5735C>T (p.Ala1912Val) n.962C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23382489G>C | CA388981512 | MYH6 | c.5735C>G (p.Ala1912Gly) n.962C>G | |
| 14 | g.23382489G= | CA2123408311 | MYH6 | c.5735C= (p.Ala1912=) n.962C= | |
| 14 | g.23382489G>T | CA388981513 | MYH6 | c.5735C>A (p.Ala1912Glu) n.962C>A | |
| 14 | g.23382490C>A | CA388981515 | MYH6 | c.5734G>T (p.Ala1912Ser) n.961G>T | |
| 14 | g.23382490C>G | CA388981518 | MYH6 | c.5734G>C (p.Ala1912Pro) n.961G>C | |
| 14 | g.23382490C>T | CA388981520 | MYH6 | c.5734G>A (p.Ala1912Thr) n.961G>A | |
| 14 | g.23382491C>A | CA485605520 | MYH6 | c.5733G>T (p.Arg1911=) n.960G>T | |
| 14 | g.23382491C>G | CA485605521 | MYH6 | c.5733G>C (p.Arg1911=) n.960G>C | |
| 14 | g.23382491C>T | CA485605519 | MYH6 | c.5733G>A (p.Arg1911=) n.960G>A | |
| 14 | g.23382492C>A | CA388981522 | MYH6 | c.5732G>T (p.Arg1911Leu) n.959G>T | |
| 14 | g.23382492C= | CA2123408312 | MYH6 | c.5732G= (p.Arg1911=) n.959G= | |
| 14 | g.23382492C>G | CA388981527 | MYH6 | c.5732G>C (p.Arg1911Pro) n.959G>C | gnomAD v4 |
| 14 | g.23382492C>T | CA388981525 | MYH6 | c.5732G>A (p.Arg1911Gln) n.959G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23382493G>A | CA7114293 | MYH6 | c.5731C>T (p.Arg1911Trp) n.958C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23382493G>C | CA388981531 | MYH6 | c.5731C>G (p.Arg1911Gly) n.958C>G | |
| 14 | g.23382493G= | CA2123408313 | MYH6 | c.5731C= (p.Arg1911=) n.958C= | |
| 14 | g.23382493G>T | CA485605522 | MYH6 | c.5731C>A (p.Arg1911=) n.958C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23382494C>A | CA388981535 | MYH6 | c.5730G>T (p.Glu1910Asp) n.957G>T | |
| 14 | g.23382494C= | CA2123408314 | MYH6 | c.5730G= (p.Glu1910=) n.957G= | |
| 14 | g.23382494C>G | CA388981538 | MYH6 | c.5730G>C (p.Glu1910Asp) n.957G>C | |
| 14 | g.23382494C>T | CA7114294 | MYH6 | c.5730G>A (p.Glu1910=) n.957G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23382495T>A | CA388981542 | MYH6 | c.5729A>T (p.Glu1910Val) n.956A>T | |
| 14 | g.23382495T>C | CA388981545 | MYH6 | c.5729A>G (p.Glu1910Gly) n.956A>G | |
| 14 | g.23382495T>G | CA388981547 | MYH6 | c.5729A>C (p.Glu1910Ala) n.956A>C | |
| 14 | g.23382496C>A | CA388981556 | MYH6 | c.5728G>T (p.Glu1910Ter) n.955G>T | |
| 14 | g.23382496C>G | CA388981553 | MYH6 | c.5728G>C (p.Glu1910Gln) n.955G>C | |
| 14 | g.23382496C>T | CA388981550 | MYH6 | c.5728G>A (p.Glu1910Lys) n.955G>A | gnomAD v4 |
| 14 | g.23382497C>A | CA388981559 | MYH6 | c.5727G>T (p.Glu1909Asp) n.954G>T | |
| 14 | g.23382497C= | CA2123408315 | MYH6 | c.5727G= (p.Glu1909=) n.954G= | |
| 14 | g.23382497C>G | CA388981563 | MYH6 | c.5727G>C (p.Glu1909Asp) n.954G>C | |
| 14 | g.23382497C>T | CA7114295 | MYH6 | c.5727G>A (p.Glu1909=) n.954G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23382498T>A | CA388981564 | MYH6 | c.5726A>T (p.Glu1909Val) n.953A>T | |
| 14 | g.23382498T>C | CA388981565 | MYH6 | c.5726A>G (p.Glu1909Gly) n.953A>G | |
| 14 | g.23382498T>G | CA388981570 | MYH6 | c.5726A>C (p.Glu1909Ala) n.953A>C | |
| 14 | g.23382499C>A | CA388981572 | MYH6 | c.5725G>T (p.Glu1909Ter) n.952G>T | |
| 14 | g.23382499C>G | CA388981578 | MYH6 | c.5725G>C (p.Glu1909Gln) n.952G>C | |
| 14 | g.23382499C>T | CA388981576 | MYH6 | c.5725G>A (p.Glu1909Lys) n.952G>A | |
| 14 | g.23382500T>A | CA485605526 | MYH6 | c.5724A>T (p.Ala1908=) n.951A>T | |
| 14 | g.23382500T>C | CA485605527 | MYH6 | c.5724A>G (p.Ala1908=) n.951A>G | |
| 14 | g.23382500T>G | CA485605528 | MYH6 | c.5724A>C (p.Ala1908=) n.951A>C | |
| 14 | g.23382501G>A | CA388981581 | MYH6 | c.5723C>T (p.Ala1908Val) n.950C>T | |
| 14 | g.23382501G>C | CA388981584 | MYH6 | c.5723C>G (p.Ala1908Gly) n.950C>G | gnomAD v4 |
| 14 | g.23382501G>T | CA388981595 | MYH6 | c.5723C>A (p.Ala1908Glu) n.950C>A | |
| 14 | g.23382502C>A | CA388981598 | MYH6 | c.5722G>T (p.Ala1908Ser) n.949G>T | |
| 14 | g.23382502C>G | CA388981601 | MYH6 | c.5722G>C (p.Ala1908Pro) n.949G>C | |
| 14 | g.23382502C>T | CA388981604 | MYH6 | c.5722G>A (p.Ala1908Thr) n.949G>A | |
| 14 | g.23382503C>A | CA388981607 | MYH6 | c.5721G>T (p.Glu1907Asp) n.948G>T | |
| 14 | g.23382503C>G | CA388981610 | MYH6 | c.5721G>C (p.Glu1907Asp) n.948G>C | |
| 14 | g.23382503C>T | CA485605530 | MYH6 | c.5721G>A (p.Glu1907=) n.948G>A | |
| 14 | g.23382504T>A | CA388981613 | MYH6 | c.5720A>T (p.Glu1907Val) n.947A>T | |
| 14 | g.23382504T>C | CA388981618 | MYH6 | c.5720A>G (p.Glu1907Gly) n.947A>G | |
| 14 | g.23382504T>G | CA388981619 | MYH6 | c.5720A>C (p.Glu1907Ala) n.947A>C | gnomAD v4 |
| 14 | g.23382505C>A | CA388981625 | MYH6 | c.5719G>T (p.Glu1907Ter) n.946G>T | |
| 14 | g.23382505C>G | CA388981632 | MYH6 | c.5719G>C (p.Glu1907Gln) n.946G>C | |
| 14 | g.23382505C>T | CA388981627 | MYH6 | c.5719G>A (p.Glu1907Lys) n.946G>A | |
| 14 | g.23382506A>C | CA388981634 | MYH6 | c.5718T>G (p.Asp1906Glu) n.945T>G | COSMIC |
| 14 | g.23382506A>G | CA485605533 | MYH6 | c.5718T>C (p.Asp1906=) n.945T>C | ClinVar |
| 14 | g.23382506A>T | CA388981637 | MYH6 | c.5718T>A (p.Asp1906Glu) n.945T>A | |
| 14 | g.23382507T>A | CA388981641 | MYH6 | c.5717A>T (p.Asp1906Val) n.944A>T | |
| 14 | g.23382507T>C | CA388981645 | MYH6 | c.5717A>G (p.Asp1906Gly) n.944A>G | |
| 14 | g.23382507T>G | CA388981647 | MYH6 | c.5717A>C (p.Asp1906Ala) n.944A>C | |
| 14 | g.23382508C>A | CA388981652 | MYH6 | c.5716G>T (p.Asp1906Tyr) n.943G>T | dbSNP gnomAD v4 |
| 14 | g.23382508C= | CA2123408316 | MYH6 | c.5716G= (p.Asp1906=) n.943G= | |
| 14 | g.23382508C>G | CA388981654 | MYH6 | c.5716G>C (p.Asp1906His) n.943G>C | |
| 14 | g.23382508C>T | CA388981655 | MYH6 | c.5716G>A (p.Asp1906Asn) n.943G>A | |
| 14 | g.23382509C>A | CA485605534 | MYH6 | c.5715G>T (p.Leu1905=) n.942G>T | |
| 14 | g.23382509C>G | CA485605535 | MYH6 | c.5715G>C (p.Leu1905=) n.942G>C | |
| 14 | g.23382509C>T | CA485605536 | MYH6 | c.5715G>A (p.Leu1905=) n.942G>A | |
| 14 | g.23382510A>C | CA388981662 | MYH6 | c.5714T>G (p.Leu1905Arg) n.941T>G | |
| 14 | g.23382510A>G | CA388981665 | MYH6 | c.5714T>C (p.Leu1905Pro) n.941T>C | ClinVar dbSNP |
| 14 | g.23382510A>T | CA388981670 | MYH6 | c.5714T>A (p.Leu1905Gln) n.941T>A | |
| 14 | g.23382511G>A | CA485605540 | MYH6 | c.5713C>T (p.Leu1905=) n.940C>T | gnomAD v4 |
| 14 | g.23382511G>C | CA388981672 | MYH6 | c.5713C>G (p.Leu1905Val) n.940C>G | |
| 14 | g.23382511G>T | CA388981674 | MYH6 | c.5713C>A (p.Leu1905Met) n.940C>A | |
| 14 | g.23382512C>A | CA388981678 | MYH6 | c.5712G>T (p.Glu1904Asp) n.939G>T | |
| 14 | g.23382512C>G | CA388981679 | MYH6 | c.5712G>C (p.Glu1904Asp) n.939G>C | |
| 14 | g.23382512C>T | CA485605542 | MYH6 | c.5712G>A (p.Glu1904=) n.939G>A | |
| 14 | g.23382513T>A | CA388981684 | MYH6 | c.5711A>T (p.Glu1904Val) n.938A>T | |
| 14 | g.23382513T>C | CA388981687 | MYH6 | c.5711A>G (p.Glu1904Gly) n.938A>G | dbSNP |
| 14 | g.23382513T>G | CA388981689 | MYH6 | c.5711A>C (p.Glu1904Ala) n.938A>C | |
| 14 | g.23382513T= | CA2123408317 | MYH6 | c.5711A= (p.Glu1904=) n.938A= | |
| 14 | g.23382514C>A | CA388981691 | MYH6 | c.5710G>T (p.Glu1904Ter) n.937G>T | |
| 14 | g.23382514C= | CA2123408318 | MYH6 | c.5710G= (p.Glu1904=) n.937G= | |
| 14 | g.23382514C>G | CA388981693 | MYH6 | c.5710G>C (p.Glu1904Gln) n.937G>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23382514C>T | CA16042946 | MYH6 | c.5710G>A (p.Glu1904Lys) n.937G>A | ClinVar dbSNP |
| 14 | g.23382515A>C | CA388981701 | MYH6 | c.5709T>G (p.His1903Gln) n.936T>G | |
| 14 | g.23382515A>G | CA485605545 | MYH6 | c.5709T>C (p.His1903=) n.936T>C | |
| 14 | g.23382515A>T | CA388981705 | MYH6 | c.5709T>A (p.His1903Gln) n.936T>A | |
| 14 | g.23382516T>A | CA388981708 | MYH6 | c.5708A>T (p.His1903Leu) n.935A>T | |
| 14 | g.23382516T>C | CA388981709 | MYH6 | c.5708A>G (p.His1903Arg) n.935A>G | |
| 14 | g.23382516T>G | CA388981712 | MYH6 | c.5708A>C (p.His1903Pro) n.935A>C | |
| 14 | g.23382517G>A | CA388981726 | MYH6 | c.5707C>T (p.His1903Tyr) n.934C>T | |
| 14 | g.23382517G>C | CA388981727 | MYH6 | c.5707C>G (p.His1903Asp) n.934C>G | |
| 14 | g.23382517G= | CA2123408319 | MYH6 | c.5707C= (p.His1903=) n.934C= | |
| 14 | g.23382517G>T | CA7114296 | MYH6 | c.5707C>A (p.His1903Asn) n.934C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23382518C>A | CA7114297 | MYH6 | c.5706G>T (p.Gln1902His) n.933G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23382518C= | CA2123408320 | MYH6 | c.5706G= (p.Gln1902=) n.933G= | |
| 14 | g.23382518C>G | CA388981729 | MYH6 | c.5706G>C (p.Gln1902His) n.933G>C | |
| 14 | g.23382518C>T | CA7114298 | MYH6 | c.5706G>A (p.Gln1902=) n.933G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23382519T>A | CA388981730 | MYH6 | c.5705A>T (p.Gln1902Leu) n.932A>T | gnomAD v4 |
| 14 | g.23382519T>C | CA388981733 | MYH6 | c.5705A>G (p.Gln1902Arg) n.932A>G | |
| 14 | g.23382519T>G | CA388981736 | MYH6 | c.5705A>C (p.Gln1902Pro) n.932A>C | |
| 14 | g.23382520G>A | CA388981739 | MYH6 | c.5704C>T (p.Gln1902Ter) n.931C>T | |
| 14 | g.23382520G>C | CA388981741 | MYH6 | c.5704C>G (p.Gln1902Glu) n.931C>G | |
| 14 | g.23382520G>T | CA388981743 | MYH6 | c.5704C>A (p.Gln1902Lys) n.931C>A | |
| 14 | g.23382521C>A | CA485605550 | MYH6 | c.5703G>T (p.Val1901=) n.930G>T | |
| 14 | g.23382521C>G | CA485605552 | MYH6 | c.5703G>C (p.Val1901=) n.930G>C | |
| 14 | g.23382521C>T | CA485605553 | MYH6 | c.5703G>A (p.Val1901=) n.930G>A | |
| 14 | g.23382522A>C | CA388981745 | MYH6 | c.5702T>G (p.Val1901Gly) n.929T>G | |
| 14 | g.23382522A>G | CA388981747 | MYH6 | c.5702T>C (p.Val1901Ala) n.929T>C | |
| 14 | g.23382522A>T | CA388981750 | MYH6 | c.5702T>A (p.Val1901Glu) n.929T>A | |
| 14 | g.23382523C>A | CA388981753 | MYH6 | c.5701G>T (p.Val1901Leu) n.928G>T | |
| 14 | g.23382523C>G | CA388981754 | MYH6 | c.5701G>C (p.Val1901Leu) n.928G>C | |
| 14 | g.23382523C>T | CA388981755 | MYH6 | c.5701G>A (p.Val1901Met) n.928G>A | |
| 14 | g.23382524C>A | CA388981758 | MYH6 | c.5700G>T (p.Lys1900Asn) n.927G>T | COSMIC |
| 14 | g.23382524C= | CA2123408321 | MYH6 | c.5700G= (p.Lys1900=) n.927G= | |
| 14 | g.23382524C>G | CA134485 | MYH6 | c.5700G>C (p.Lys1900Asn) n.927G>C | ClinVar dbSNP |
| 14 | g.23382524C>T | CA485605554 | MYH6 | c.5700G>A (p.Lys1900=) n.927G>A | |
| 14 | g.23382525T>A | CA388981771 | MYH6 | c.5699A>T (p.Lys1900Met) n.926A>T | |
| 14 | g.23382525T>C | CA388981773 | MYH6 | c.5699A>G (p.Lys1900Arg) n.926A>G | |
| 14 | g.23382525T>G | CA388981776 | MYH6 | c.5699A>C (p.Lys1900Thr) n.926A>C | |
| 14 | g.23382526T>A | CA388981778 | MYH6 | c.5698A>T (p.Lys1900Ter) n.925A>T | |
| 14 | g.23382526T>C | CA388981781 | MYH6 | c.5698A>G (p.Lys1900Glu) n.925A>G | |
| 14 | g.23382526T>G | CA388981782 | MYH6 | c.5698A>C (p.Lys1900Gln) n.925A>C | |
| 14 | g.23382527G>A | CA7114299 | MYH6 | c.5697C>T (p.Arg1899=) n.924C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23382527G>C | CA485605558 | MYH6 | c.5697C>G (p.Arg1899=) n.924C>G | |
| 14 | g.23382527G= | CA2123408322 | MYH6 | c.5697C= (p.Arg1899=) n.924C= | |
| 14 | g.23382527G>T | CA485605559 | MYH6 | c.5697C>A (p.Arg1899=) n.924C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23382528C>A | CA388981783 | MYH6 | c.5696G>T (p.Arg1899Leu) n.923G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23382528C= | CA2123408323 | MYH6 | c.5696G= (p.Arg1899=) n.923G= | |
| 14 | g.23382528C>G | CA388981786 | MYH6 | c.5696G>C (p.Arg1899Pro) n.923G>C | |
| 14 | g.23382528C>T | CA16607592 | MYH6 | c.5696G>A (p.Arg1899His) n.923G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23382529G>A | CA7114300 | MYH6 | c.5695C>T (p.Arg1899Cys) n.922C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23382529G>C | CA388981795 | MYH6 | c.5695C>G (p.Arg1899Gly) n.922C>G | |
| 14 | g.23382529G= | CA2123408324 | MYH6 | c.5695C= (p.Arg1899=) n.922C= | |
| 14 | g.23382529G>T | CA388981798 | MYH6 | c.5695C>A (p.Arg1899Ser) n.922C>A | |
| 14 | g.23382530G>A | CA7114302 | MYH6 | c.5694C>T (p.Phe1898=) n.921C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23382530G>C | CA7114301 | MYH6 | c.5694C>G (p.Phe1898Leu) n.921C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23382530G= | CA2123408325 | MYH6 | c.5694C= (p.Phe1898=) n.921C= | |
| 14 | g.23382530G>T | CA388981801 | MYH6 | c.5694C>A (p.Phe1898Leu) n.921C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23382531A>C | CA388981804 | MYH6 | c.5693T>G (p.Phe1898Cys) n.920T>G | |
| 14 | g.23382531A>G | CA388981809 | MYH6 | c.5693T>C (p.Phe1898Ser) n.920T>C | |
| 14 | g.23382531A>T | CA388981811 | MYH6 | c.5693T>A (p.Phe1898Tyr) n.920T>A | |
| 14 | g.23382532A= | CA2123408326 | MYH6 | c.5692T= (p.Phe1898=) n.919T= | |
| 14 | g.23382532A>C | CA10587756 | MYH6 | c.5692T>G (p.Phe1898Val) n.919T>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23382532A>G | CA7114303 | MYH6 | c.5692T>C (p.Phe1898Leu) n.919T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23382532A>T | CA388981815 | MYH6 | c.5692T>A (p.Phe1898Ile) n.919T>A | gnomAD v4 |