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.23396316_23396350del | CA2624246239 | MYH6 | c.2366_2400del (p.Arg789HisfsTer2) | gnomAD v4 |
| 14 | g.23396340C>A | CA389016231 | MYH6 | c.2373G>T (p.Gln791His) | dbSNP |
| 14 | g.23396340C= | CA2123417918 | MYH6 | c.2373G= (p.Gln791=) | |
| 14 | g.23396340C>G | CA389016232 | MYH6 | c.2373G>C (p.Gln791His) | |
| 14 | g.23396340C>T | CA485609958 | MYH6 | c.2373G>A (p.Gln791=) | |
| 14 | g.23396341T>A | CA389016234 | MYH6 | c.2372A>T (p.Gln791Leu) | |
| 14 | g.23396341T>C | CA389016236 | MYH6 | c.2372A>G (p.Gln791Arg) | gnomAD v4 |
| 14 | g.23396341T>G | CA389016238 | MYH6 | c.2372A>C (p.Gln791Pro) | |
| 14 | g.23396342G>A | CA257789181 | MYH6 | c.2371C>T (p.Gln791Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23396342G>C | CA7115485 | MYH6 | c.2371C>G (p.Gln791Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23396342G= | CA2123417924 | MYH6 | c.2371C= (p.Gln791=) | |
| 14 | g.23396342G>T | CA389016241 | MYH6 | c.2371C>A (p.Gln791Lys) | |
| 14 | g.23396343C>A | CA389016243 | MYH6 | c.2370G>T (p.Met790Ile) | |
| 14 | g.23396343C= | CA2123417928 | MYH6 | c.2370G= (p.Met790=) | |
| 14 | g.23396343C>G | CA389016246 | MYH6 | c.2370G>C (p.Met790Ile) | dbSNP |
| 14 | g.23396343C>T | CA389016244 | MYH6 | c.2370G>A (p.Met790Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396344A= | CA2123417931 | MYH6 | c.2369T= (p.Met790=) | |
| 14 | g.23396344A>C | CA389016248 | MYH6 | c.2369T>G (p.Met790Arg) | |
| 14 | g.23396344A>G | CA389016251 | MYH6 | c.2369T>C (p.Met790Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23396344A>T | CA389016250 | MYH6 | c.2369T>A (p.Met790Lys) | |
| 14 | g.23396345T>A | CA7115486 | MYH6 | c.2368A>T (p.Met790Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23396345T>C | CA10576947 | MYH6 | c.2368A>G (p.Met790Val) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23396345T>G | CA389016254 | MYH6 | c.2368A>C (p.Met790Leu) | ClinVar gnomAD v4 |
| 14 | g.23396345T= | CA2123417932 | MYH6 | c.2368A= (p.Met790=) | |
| 14 | g.23396346G>A | CA485609963 | MYH6 | c.2367C>T (p.Arg789=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396346G>C | CA485609965 | MYH6 | c.2367C>G (p.Arg789=) | |
| 14 | g.23396346G= | CA2123417933 | MYH6 | c.2367C= (p.Arg789=) | |
| 14 | g.23396346G>T | CA485609966 | MYH6 | c.2367C>A (p.Arg789=) | dbSNP |
| 14 | g.23396347C>A | CA389016256 | MYH6 | c.2366G>T (p.Arg789Leu) | gnomAD v4 |
| 14 | g.23396347C= | CA2123417934 | MYH6 | c.2366G= (p.Arg789=) | |
| 14 | g.23396347C>G | CA389016257 | MYH6 | c.2366G>C (p.Arg789Pro) | |
| 14 | g.23396347C>T | CA7115487 | MYH6 | c.2366G>A (p.Arg789His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23396348G>A | CA7115488 | MYH6 | c.2365C>T (p.Arg789Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23396348G>C | CA389016261 | MYH6 | c.2365C>G (p.Arg789Gly) | |
| 14 | g.23396348G= | CA2123417935 | MYH6 | c.2365C= (p.Arg789=) | |
| 14 | g.23396348G>T | CA389016262 | MYH6 | c.2365C>A (p.Arg789Ser) | dbSNP |
| 14 | g.23396349C>A | CA485609969 | MYH6 | c.2364G>T (p.Thr788=) | |
| 14 | g.23396349C= | CA2123417936 | MYH6 | c.2364G= (p.Thr788=) | |
| 14 | g.23396349C>G | CA485609971 | MYH6 | c.2364G>C (p.Thr788=) | dbSNP |
| 14 | g.23396349C>T | CA7115489 | MYH6 | c.2364G>A (p.Thr788=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23396350G>A | CA7115490 | MYH6 | c.2363C>T (p.Thr788Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396350G>C | CA7115491 | MYH6 | c.2363C>G (p.Thr788Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23396350G= | CA2123417938 | MYH6 | c.2363C= (p.Thr788=) | |
| 14 | g.23396350G>T | CA389016266 | MYH6 | c.2363C>A (p.Thr788Lys) | gnomAD v4 |
| 14 | g.23396351T>A | CA389016271 | MYH6 | c.2362A>T (p.Thr788Ser) | |
| 14 | g.23396351T>C | CA389016270 | MYH6 | c.2362A>G (p.Thr788Ala) | |
| 14 | g.23396351T>G | CA389016268 | MYH6 | c.2362A>C (p.Thr788Pro) | |
| 14 | g.23396352G>A | CA485609976 | MYH6 | c.2361C>T (p.Ile787=) | |
| 14 | g.23396352G>C | CA389016273 | MYH6 | c.2361C>G (p.Ile787Met) | ClinVar dbSNP |
| 14 | g.23396352G= | CA2123417940 | MYH6 | c.2361C= (p.Ile787=) | |
| 14 | g.23396352G>T | CA485609977 | MYH6 | c.2361C>A (p.Ile787=) | |
| 14 | g.23396353A= | CA2123417942 | MYH6 | c.2360T= (p.Ile787=) | |
| 14 | g.23396353A>C | CA389016275 | MYH6 | c.2360T>G (p.Ile787Ser) | |
| 14 | g.23396353A>G | CA389016277 | MYH6 | c.2360T>C (p.Ile787Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23396353A>T | CA389016278 | MYH6 | c.2360T>A (p.Ile787Asn) | |
| 14 | g.23396354T>A | CA389016280 | MYH6 | c.2359A>T (p.Ile787Phe) | |
| 14 | g.23396354T>C | CA389016281 | MYH6 | c.2359A>G (p.Ile787Val) | ClinVar dbSNP gnomAD v2 |
| 14 | g.23396354T>G | CA389016283 | MYH6 | c.2359A>C (p.Ile787Leu) | |
| 14 | g.23396354T= | CA2123417945 | MYH6 | c.2359A= (p.Ile787=) | |
| 14 | g.23396355G>A | CA485609979 | MYH6 | c.2358C>T (p.Ile786=) | |
| 14 | g.23396355G>C | CA389016284 | MYH6 | c.2358C>G (p.Ile786Met) | |
| 14 | g.23396355G>T | CA485609980 | MYH6 | c.2358C>A (p.Ile786=) | |
| 14 | g.23396356A= | CA2123417948 | MYH6 | c.2357T= (p.Ile786=) | |
| 14 | g.23396356A>C | CA7115492 | MYH6 | c.2357T>G (p.Ile786Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23396356A>G | CA389016286 | MYH6 | c.2357T>C (p.Ile786Thr) | |
| 14 | g.23396356A>T | CA7115493 | MYH6 | c.2357T>A (p.Ile786Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396357T>A | CA389016290 | MYH6 | c.2356A>T (p.Ile786Phe) | |
| 14 | g.23396357T>C | CA389016288 | MYH6 | c.2356A>G (p.Ile786Val) | |
| 14 | g.23396357T>G | CA389016287 | MYH6 | c.2356A>C (p.Ile786Leu) | |
| 14 | g.23396358G>A | CA485609981 | MYH6 | c.2355C>T (p.Arg785=) | |
| 14 | g.23396358G>C | CA485609982 | MYH6 | c.2355C>G (p.Arg785=) | dbSNP |
| 14 | g.23396358G= | CA2123417952 | MYH6 | c.2355C= (p.Arg785=) | |
| 14 | g.23396358G>T | CA257789235 | MYH6 | c.2355C>A (p.Arg785=) | dbSNP gnomAD v4 |
| 14 | g.23396359C>A | CA389016293 | MYH6 | c.2354G>T (p.Arg785Leu) | gnomAD v4 COSMIC |
| 14 | g.23396359C= | CA2123417960 | MYH6 | c.2354G= (p.Arg785=) | |
| 14 | g.23396359C>G | CA389016294 | MYH6 | c.2354G>C (p.Arg785Pro) | |
| 14 | g.23396359C>T | CA7115494 | MYH6 | c.2354G>A (p.Arg785His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396360G>A | CA7115495 | MYH6 | c.2353C>T (p.Arg785Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396360G>C | CA389016297 | MYH6 | c.2353C>G (p.Arg785Gly) | |
| 14 | g.23396360G= | CA2123417964 | MYH6 | c.2353C= (p.Arg785=) | |
| 14 | g.23396360G>T | CA389016299 | MYH6 | c.2353C>A (p.Arg785Ser) | |
| 14 | g.23396361G>A | CA485609988 | MYH6 | c.2352C>T (p.Ser784=) | |
| 14 | g.23396361G>C | CA389016300 | MYH6 | c.2352C>G (p.Ser784Arg) | |
| 14 | g.23396361G>T | CA389016302 | MYH6 | c.2352C>A (p.Ser784Arg) | |
| 14 | g.23396362C>A | CA389016304 | MYH6 | c.2351G>T (p.Ser784Ile) | |
| 14 | g.23396362C>G | CA389016305 | MYH6 | c.2351G>C (p.Ser784Thr) | |
| 14 | g.23396362C>T | CA389016307 | MYH6 | c.2351G>A (p.Ser784Asn) | gnomAD v4 |
| 14 | g.23396363T>A | CA389016313 | MYH6 | c.2350A>T (p.Ser784Cys) | gnomAD v4 |
| 14 | g.23396363T>C | CA389016309 | MYH6 | c.2350A>G (p.Ser784Gly) | |
| 14 | g.23396363T>G | CA389016311 | MYH6 | c.2350A>C (p.Ser784Arg) | |
| 14 | g.23396363_23396364delinsTC | CA2123417973 | MYH6 | c.2349_2350delinsGA (p.Leu783=) | |
| 14 | g.23396364del | CA612933836 | MYH6 | c.2349del (p.Ser784AlafsTer23) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396364C>A | CA485609992 | MYH6 | c.2349G>T (p.Leu783=) | |
| 14 | g.23396364C>G | CA485609995 | MYH6 | c.2349G>C (p.Leu783=) | |
| 14 | g.23396364C>T | CA485609996 | MYH6 | c.2349G>A (p.Leu783=) | |
| 14 | g.23396365A>C | CA389016314 | MYH6 | c.2348T>G (p.Leu783Arg) | |
| 14 | g.23396365A>G | CA389016316 | MYH6 | c.2348T>C (p.Leu783Pro) | |
| 14 | g.23396365A>T | CA389016317 | MYH6 | c.2348T>A (p.Leu783Gln) | |
| 14 | g.23396366G>A | CA485609998 | MYH6 | c.2347C>T (p.Leu783=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23396366G>C | CA389016319 | MYH6 | c.2347C>G (p.Leu783Val) | |
| 14 | g.23396366G= | CA2123417979 | MYH6 | c.2347C= (p.Leu783=) | |
| 14 | g.23396366G>T | CA257789241 | MYH6 | c.2347C>A (p.Leu783Met) | dbSNP |
| 14 | g.23396367C>A | CA389016321 | MYH6 | c.2346G>T (p.Arg782Ser) | |
| 14 | g.23396367C>G | CA389016323 | MYH6 | c.2346G>C (p.Arg782Ser) | |
| 14 | g.23396367C>T | CA485610001 | MYH6 | c.2346G>A (p.Arg782=) | |
| 14 | g.23396368C>A | CA389016325 | MYH6 | c.2345G>T (p.Arg782Met) | |
| 14 | g.23396368C= | CA2123417983 | MYH6 | c.2345G= (p.Arg782=) | |
| 14 | g.23396368C>G | CA389016326 | MYH6 | c.2345G>C (p.Arg782Thr) | |
| 14 | g.23396368C>T | CA257789243 | MYH6 | c.2345G>A (p.Arg782Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23396369T>A | CA389016329 | MYH6 | c.2344A>T (p.Arg782Trp) | |
| 14 | g.23396369T>C | CA389016330 | MYH6 | c.2344A>G (p.Arg782Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23396369T>G | CA485610003 | MYH6 | c.2344A>C (p.Arg782=) | |
| 14 | g.23396369T= | CA2123417987 | MYH6 | c.2344A= (p.Arg782=) | |
| 14 | g.23396370C>A | CA389016333 | MYH6 | c.2343G>T (p.Glu781Asp) | |
| 14 | g.23396370C= | CA2123417990 | MYH6 | c.2343G= (p.Glu781=) | |
| 14 | g.23396370C>G | CA389016332 | MYH6 | c.2343G>C (p.Glu781Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23396370C>T | CA485610004 | MYH6 | c.2343G>A (p.Glu781=) | |
| 14 | g.23396371T>A | CA389016335 | MYH6 | c.2342A>T (p.Glu781Val) | |
| 14 | g.23396371T>C | CA389016337 | MYH6 | c.2342A>G (p.Glu781Gly) | |
| 14 | g.23396371T>G | CA389016339 | MYH6 | c.2342A>C (p.Glu781Ala) | |
| 14 | g.23396372C>A | CA389016340 | MYH6 | c.2341G>T (p.Glu781Ter) | |
| 14 | g.23396372C>G | CA389016342 | MYH6 | c.2341G>C (p.Glu781Gln) | |
| 14 | g.23396372C>T | CA389016344 | MYH6 | c.2341G>A (p.Glu781Lys) | |
| 14 | g.23396373A>C | CA389016347 | MYH6 | c.2340T>G (p.Asp780Glu) | |
| 14 | g.23396373A>G | CA485610007 | MYH6 | c.2340T>C (p.Asp780=) | |
| 14 | g.23396373A>T | CA389016346 | MYH6 | c.2340T>A (p.Asp780Glu) | |
| 14 | g.23396374T>A | CA389016349 | MYH6 | c.2339A>T (p.Asp780Val) | |
| 14 | g.23396374T>C | CA389016351 | MYH6 | c.2339A>G (p.Asp780Gly) | |
| 14 | g.23396374T>G | CA389016352 | MYH6 | c.2339A>C (p.Asp780Ala) | |
| 14 | g.23396375C>A | CA389016354 | MYH6 | c.2338G>T (p.Asp780Tyr) | |
| 14 | g.23396375C= | CA2123417993 | MYH6 | c.2338G= (p.Asp780=) | |
| 14 | g.23396375C>G | CA389016355 | MYH6 | c.2338G>C (p.Asp780His) | |
| 14 | g.23396375C>T | CA7115496 | MYH6 | c.2338G>A (p.Asp780Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23396376C>A | CA485610012 | MYH6 | c.2337G>T (p.Arg779=) | |
| 14 | g.23396376C= | CA2123417996 | MYH6 | c.2337G= (p.Arg779=) | |
| 14 | g.23396376C>G | CA485610013 | MYH6 | c.2337G>C (p.Arg779=) | |
| 14 | g.23396376C>T | CA485610015 | MYH6 | c.2337G>A (p.Arg779=) | dbSNP |
| 14 | g.23396377C>A | CA389016361 | MYH6 | c.2336G>T (p.Arg779Leu) | |
| 14 | g.23396377C= | CA2123418000 | MYH6 | c.2336G= (p.Arg779=) | |
| 14 | g.23396377C>G | CA389016358 | MYH6 | c.2336G>C (p.Arg779Pro) | |
| 14 | g.23396377C>T | CA389016360 | MYH6 | c.2336G>A (p.Arg779Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396378G>A | CA7115497 | MYH6 | c.2335C>T (p.Arg779Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23396378G>C | CA389016364 | MYH6 | c.2335C>G (p.Arg779Gly) | |
| 14 | g.23396378G= | CA2123418003 | MYH6 | c.2335C= (p.Arg779=) | |
| 14 | g.23396378G>T | CA485610016 | MYH6 | c.2335C>A (p.Arg779=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396379C>A | CA389016366 | MYH6 | c.2334G>T (p.Met778Ile) | |
| 14 | g.23396379C= | CA2123418004 | MYH6 | c.2334G= (p.Met778=) | |
| 14 | g.23396379C>G | CA389016367 | MYH6 | c.2334G>C (p.Met778Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23396379C>T | CA389016369 | MYH6 | c.2334G>A (p.Met778Ile) | ClinVar |
| 14 | g.23396380A>C | CA389016371 | MYH6 | c.2333T>G (p.Met778Arg) | |
| 14 | g.23396380A>G | CA389016373 | MYH6 | c.2333T>C (p.Met778Thr) | |
| 14 | g.23396380A>T | CA389016374 | MYH6 | c.2333T>A (p.Met778Lys) | |
| 14 | g.23396381T>A | CA7115498 | MYH6 | c.2332A>T (p.Met778Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23396381T>C | CA389016377 | MYH6 | c.2332A>G (p.Met778Val) | COSMIC |
| 14 | g.23396381T>G | CA389016378 | MYH6 | c.2332A>C (p.Met778Leu) | |
| 14 | g.23396381T= | CA2123418005 | MYH6 | c.2332A= (p.Met778=) | |
| 14 | g.23396382C>A | CA389016380 | MYH6 | c.2331G>T (p.Glu777Asp) | |
| 14 | g.23396382C>G | CA389016382 | MYH6 | c.2331G>C (p.Glu777Asp) | |
| 14 | g.23396382C>T | CA485610018 | MYH6 | c.2331G>A (p.Glu777=) | COSMIC |
| 14 | g.23396383T>A | CA389016384 | MYH6 | c.2330A>T (p.Glu777Val) | |
| 14 | g.23396383T>C | CA389016388 | MYH6 | c.2330A>G (p.Glu777Gly) | |
| 14 | g.23396383T>G | CA389016386 | MYH6 | c.2330A>C (p.Glu777Ala) | dbSNP |
| 14 | g.23396384C>A | CA389016390 | MYH6 | c.2329G>T (p.Glu777Ter) | |
| 14 | g.23396384C= | CA2123418007 | MYH6 | c.2329G= (p.Glu777=) | |
| 14 | g.23396384C>G | CA389016391 | MYH6 | c.2329G>C (p.Glu777Gln) | |
| 14 | g.23396384C>T | CA7115499 | MYH6 | c.2329G>A (p.Glu777Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23396385C>A | CA389016393 | MYH6 | c.2328G>T (p.Glu776Asp) | |
| 14 | g.23396385C>G | CA389016395 | MYH6 | c.2328G>C (p.Glu776Asp) | |
| 14 | g.23396385C>T | CA485610021 | MYH6 | c.2328G>A (p.Glu776=) | |
| 14 | g.23396386T>A | CA389016397 | MYH6 | c.2327A>T (p.Glu776Val) | |
| 14 | g.23396386T>C | CA389016399 | MYH6 | c.2327A>G (p.Glu776Gly) | |
| 14 | g.23396386T>G | CA389016400 | MYH6 | c.2327A>C (p.Glu776Ala) | |
| 14 | g.23396387C>A | CA389016402 | MYH6 | c.2326G>T (p.Glu776Ter) | |
| 14 | g.23396387C>G | CA389016404 | MYH6 | c.2326G>C (p.Glu776Gln) | |
| 14 | g.23396387C>T | CA389016405 | MYH6 | c.2326G>A (p.Glu776Lys) | |
| 14 | g.23396388del | CA2624246458 | MYH6 | c.2326del (p.Glu776ArgfsTer8) | gnomAD v4 |
| 14 | g.23396388C>A | CA485610025 | MYH6 | c.2325G>T (p.Leu775=) | ClinVar dbSNP |
| 14 | g.23396388C= | CA2123418012 | MYH6 | c.2325G= (p.Leu775=) | |
| 14 | g.23396388C>G | CA485610026 | MYH6 | c.2325G>C (p.Leu775=) | |
| 14 | g.23396388C>T | CA485610027 | MYH6 | c.2325G>A (p.Leu775=) | |
| 14 | g.23396389A>C | CA389016411 | MYH6 | c.2324T>G (p.Leu775Arg) | |
| 14 | g.23396389A>G | CA389016409 | MYH6 | c.2324T>C (p.Leu775Pro) | |
| 14 | g.23396389A>T | CA389016407 | MYH6 | c.2324T>A (p.Leu775Gln) | |
| 14 | g.23396390G>A | CA485610031 | MYH6 | c.2323C>T (p.Leu775=) | |
| 14 | g.23396390G>C | CA389016412 | MYH6 | c.2323C>G (p.Leu775Val) | |
| 14 | g.23396390G>T | CA389016413 | MYH6 | c.2323C>A (p.Leu775Met) | |
| 14 | g.23396391C>A | CA485610032 | MYH6 | c.2322G>T (p.Leu774=) | |
| 14 | g.23396391C= | CA2123418016 | MYH6 | c.2322G= (p.Leu774=) | |
| 14 | g.23396391C>G | CA485610033 | MYH6 | c.2322G>C (p.Leu774=) | |
| 14 | g.23396391C>T | CA485610034 | MYH6 | c.2322G>A (p.Leu774=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23396392A= | CA2123418023 | MYH6 | c.2321T= (p.Leu774=) | |
| 14 | g.23396392A>C | CA389016416 | MYH6 | c.2321T>G (p.Leu774Arg) | |
| 14 | g.23396392A>G | CA389016418 | MYH6 | c.2321T>C (p.Leu774Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23396392A>T | CA389016419 | MYH6 | c.2321T>A (p.Leu774Gln) | dbSNP |
| 14 | g.23396393G>A | CA485610036 | MYH6 | c.2320C>T (p.Leu774=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23396393G>C | CA389016421 | MYH6 | c.2320C>G (p.Leu774Val) | |
| 14 | g.23396393G= | CA2123418026 | MYH6 | c.2320C= (p.Leu774=) | |
| 14 | g.23396393G>T | CA389016423 | MYH6 | c.2320C>A (p.Leu774Met) | |
| 14 | g.23396394C>A | CA485610037 | MYH6 | c.2319G>T (p.Gly773=) | |
| 14 | g.23396394C>G | CA485610038 | MYH6 | c.2319G>C (p.Gly773=) | |
| 14 | g.23396394C>T | CA485610040 | MYH6 | c.2319G>A (p.Gly773=) | |
| 14 | g.23396395C>A | CA389016425 | MYH6 | c.2318G>T (p.Gly773Val) | |
| 14 | g.23396395C>G | CA389016427 | MYH6 | c.2318G>C (p.Gly773Ala) | |
| 14 | g.23396395C>T | CA389016428 | MYH6 | c.2318G>A (p.Gly773Glu) | |
| 14 | g.23396396C>A | CA389016430 | MYH6 | c.2317G>T (p.Gly773Trp) | |
| 14 | g.23396396C>G | CA389016431 | MYH6 | c.2317G>C (p.Gly773Arg) | |
| 14 | g.23396396C>T | CA389016433 | MYH6 | c.2317G>A (p.Gly773Arg) | |
| 14 | g.23396397A= | CA2123418029 | MYH6 | c.2316T= (p.Leu772=) | |
| 14 | g.23396397A>C | CA485610041 | MYH6 | c.2316T>G (p.Leu772=) | dbSNP |
| 14 | g.23396397A>G | CA485610043 | MYH6 | c.2316T>C (p.Leu772=) | |
| 14 | g.23396397A>T | CA485610045 | MYH6 | c.2316T>A (p.Leu772=) | |
| 14 | g.23396398A>C | CA389016437 | MYH6 | c.2315T>G (p.Leu772Arg) | |
| 14 | g.23396398A>G | CA389016439 | MYH6 | c.2315T>C (p.Leu772Pro) | |
| 14 | g.23396398A>T | CA389016436 | MYH6 | c.2315T>A (p.Leu772His) | |
| 14 | g.23396399G>A | CA389016443 | MYH6 | c.2314C>T (p.Leu772Phe) | |
| 14 | g.23396399G>C | CA389016441 | MYH6 | c.2314C>G (p.Leu772Val) | |
| 14 | g.23396399G>T | CA389016444 | MYH6 | c.2314C>A (p.Leu772Ile) | |
| 14 | g.23396400C>A | CA7115500 | MYH6 | c.2313G>T (p.Leu771=) | dbSNP ExAC gnomAD v4 |
| 14 | g.23396400C= | CA2123418033 | MYH6 | c.2313G= (p.Leu771=) | |
| 14 | g.23396400C>G | CA485610048 | MYH6 | c.2313G>C (p.Leu771=) | |
| 14 | g.23396400C>T | CA485610049 | MYH6 | c.2313G>A (p.Leu771=) | |
| 14 | g.23396401A= | CA2123418039 | MYH6 | c.2312T= (p.Leu771=) | |
| 14 | g.23396401A>C | CA389016447 | MYH6 | c.2312T>G (p.Leu771Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396401A>G | CA389016448 | MYH6 | c.2312T>C (p.Leu771Pro) | |
| 14 | g.23396401A>T | CA389016449 | MYH6 | c.2312T>A (p.Leu771Gln) | |
| 14 | g.23396402G>A | CA485610050 | MYH6 | c.2311C>T (p.Leu771=) | |
| 14 | g.23396402G>C | CA389016450 | MYH6 | c.2311C>G (p.Leu771Val) | |
| 14 | g.23396402G= | CA2123418043 | MYH6 | c.2311C= (p.Leu771=) | |
| 14 | g.23396402G>T | CA257789262 | MYH6 | c.2311C>A (p.Leu771Met) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23396403C>A | CA485610053 | MYH6 | c.2310G>T (p.Gly770=) | |
| 14 | g.23396403C= | CA2123418047 | MYH6 | c.2310G= (p.Gly770=) | |
| 14 | g.23396403C>G | CA485610052 | MYH6 | c.2310G>C (p.Gly770=) | |
| 14 | g.23396403C>T | CA7115501 | MYH6 | c.2310G>A (p.Gly770=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396404C>A | CA389016451 | MYH6 | c.2309G>T (p.Gly770Val) | |
| 14 | g.23396404C>G | CA389016452 | MYH6 | c.2309G>C (p.Gly770Ala) | |
| 14 | g.23396404C>T | CA389016453 | MYH6 | c.2309G>A (p.Gly770Glu) | |
| 14 | g.23396405C>A | CA389016454 | MYH6 | c.2308G>T (p.Gly770Trp) | |
| 14 | g.23396405C>G | CA389016455 | MYH6 | c.2308G>C (p.Gly770Arg) | |
| 14 | g.23396405C>T | CA389016456 | MYH6 | c.2308G>A (p.Gly770Arg) | |
| 14 | g.23396406T>A | CA485610057 | MYH6 | c.2307A>T (p.Ala769=) | |
| 14 | g.23396406T>C | CA485610058 | MYH6 | c.2307A>G (p.Ala769=) | dbSNP |
| 14 | g.23396406T>G | CA485610059 | MYH6 | c.2307A>C (p.Ala769=) | |
| 14 | g.23396406T= | CA2123418054 | MYH6 | c.2307A= (p.Ala769=) | |
| 14 | g.23396407G>A | CA7115502 | MYH6 | c.2306C>T (p.Ala769Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23396407G>C | CA389016458 | MYH6 | c.2306C>G (p.Ala769Gly) | |
| 14 | g.23396407G= | CA2123418061 | MYH6 | c.2306C= (p.Ala769=) | |
| 14 | g.23396407G>T | CA389016457 | MYH6 | c.2306C>A (p.Ala769Glu) | |
| 14 | g.23396408C>A | CA389016459 | MYH6 | c.2305G>T (p.Ala769Ser) | gnomAD v4 COSMIC |
| 14 | g.23396408C>G | CA389016460 | MYH6 | c.2305G>C (p.Ala769Pro) | |
| 14 | g.23396408C>T | CA389016461 | MYH6 | c.2305G>A (p.Ala769Thr) | gnomAD v4 |
| 14 | g.23396409C>A | CA389016462 | MYH6 | c.2304G>T (p.Lys768Asn) | |
| 14 | g.23396409C>G | CA389016463 | MYH6 | c.2304G>C (p.Lys768Asn) | |
| 14 | g.23396409C>T | CA485610061 | MYH6 | c.2304G>A (p.Lys768=) | |
| 14 | g.23396410T>A | CA389016464 | MYH6 | c.2303A>T (p.Lys768Met) | |
| 14 | g.23396410T>C | CA389016465 | MYH6 | c.2303A>G (p.Lys768Arg) | |
| 14 | g.23396410T>G | CA389016466 | MYH6 | c.2303A>C (p.Lys768Thr) | |
| 14 | g.23396411T>A | CA389016467 | MYH6 | c.2302A>T (p.Lys768Ter) | |
| 14 | g.23396411T>C | CA389016468 | MYH6 | c.2302A>G (p.Lys768Glu) | |
| 14 | g.23396411T>G | CA389016469 | MYH6 | c.2302A>C (p.Lys768Gln) | |
| 14 | g.23396412G>A | CA485610063 | MYH6 | c.2301C>T (p.Phe767=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23396412G>C | CA389016471 | MYH6 | c.2301C>G (p.Phe767Leu) | |
| 14 | g.23396412G= | CA2123418065 | MYH6 | c.2301C= (p.Phe767=) | |
| 14 | g.23396412G>T | CA389016470 | MYH6 | c.2301C>A (p.Phe767Leu) | |
| 14 | g.23396413A= | CA2123418070 | MYH6 | c.2300T= (p.Phe767=) | |
| 14 | g.23396413A>C | CA389016472 | MYH6 | c.2300T>G (p.Phe767Cys) | |
| 14 | g.23396413A>G | CA389016474 | MYH6 | c.2300T>C (p.Phe767Ser) | |
| 14 | g.23396413A>T | CA389016473 | MYH6 | c.2300T>A (p.Phe767Tyr) | dbSNP |
| 14 | g.23396414A>C | CA389016475 | MYH6 | c.2299T>G (p.Phe767Val) | |
| 14 | g.23396414A>G | CA389016476 | MYH6 | c.2299T>C (p.Phe767Leu) | |
| 14 | g.23396414A>T | CA389016478 | MYH6 | c.2299T>A (p.Phe767Ile) | |
| 14 | g.23396415G>A | CA485610065 | MYH6 | c.2298C>T (p.Phe766=) | ClinVar COSMIC |
| 14 | g.23396415G>C | CA389016479 | MYH6 | c.2298C>G (p.Phe766Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23396415G= | CA2123418075 | MYH6 | c.2298C= (p.Phe766=) | |
| 14 | g.23396415G>T | CA389016480 | MYH6 | c.2298C>A (p.Phe766Leu) | |
| 14 | g.23396416A>C | CA389016481 | MYH6 | c.2297T>G (p.Phe766Cys) | |
| 14 | g.23396416A>G | CA389016482 | MYH6 | c.2297T>C (p.Phe766Ser) | |
| 14 | g.23396416A>T | CA389016483 | MYH6 | c.2297T>A (p.Phe766Tyr) | |
| 14 | g.23396417A= | CA2123418080 | MYH6 | c.2296T= (p.Phe766=) | |
| 14 | g.23396417A>C | CA389016484 | MYH6 | c.2296T>G (p.Phe766Val) | |
| 14 | g.23396417A>G | CA389016485 | MYH6 | c.2296T>C (p.Phe766Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23396417A>T | CA389016486 | MYH6 | c.2296T>A (p.Phe766Ile) | dbSNP |
| 14 | g.23396418C>A | CA485610069 | MYH6 | c.2295G>T (p.Val765=) | |
| 14 | g.23396418C>G | CA485610070 | MYH6 | c.2295G>C (p.Val765=) | |
| 14 | g.23396418C>T | CA485610071 | MYH6 | c.2295G>A (p.Val765=) | |
| 14 | g.23396419A>C | CA389016491 | MYH6 | c.2294T>G (p.Val765Gly) | |
| 14 | g.23396419A>G | CA389016489 | MYH6 | c.2294T>C (p.Val765Ala) | |
| 14 | g.23396419A>T | CA389016487 | MYH6 | c.2294T>A (p.Val765Glu) | |
| 14 | g.23396420C>A | CA389016493 | MYH6 | c.2293G>T (p.Val765Leu) | gnomAD v4 |
| 14 | g.23396420C>G | CA389016495 | MYH6 | c.2293G>C (p.Val765Leu) | |
| 14 | g.23396420C>T | CA389016497 | MYH6 | c.2293G>A (p.Val765Met) | |
| 14 | g.23396421C>A | CA389016500 | MYH6 | c.2293-1G>T (n.2293-1G>T) | |
| 14 | g.23396421C>G | CA389016502 | MYH6 | c.2293-1G>C (n.2293-1G>C) | |
| 14 | g.23396421C>T | CA389016504 | MYH6 | c.2293-1G>A (n.2293-1G>A) | |
| 14 | g.23396421_23396423delinsCTG | CA2123418084 | MYH6 | c.2293-3_2293-1delinsCAG (n.2293-3_2293-1delinsCAG) | |
| 14 | g.23396422T>A | CA389016506 | MYH6 | c.2293-2A>T (n.2293-2A>T) | |
| 14 | g.23396422T>C | CA389016508 | MYH6 | c.2293-2A>G (n.2293-2A>G) | |
| 14 | g.23396422T>G | CA389016510 | MYH6 | c.2293-2A>C (n.2293-2A>C) | ClinVar dbSNP |
| 14 | g.23396422_23396423del | CA7115503 | MYH6 | c.2293-3_2293-2del (n.2293-3_2293-2del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23396423G= | CA2123418094 | MYH6 | c.2293-3C= (n.2293-3C=) | |
| 14 | g.23396424C= | CA2123418096 | MYH6 | c.2293-4G= (n.2293-4G=) | |
| 14 | g.23396424dup | CA612933851 | MYH6 | c.2293-4dup (n.2293-4dup) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23396424_23396425insCT | CA7115504 | MYH6 | c.2293-5_2293-4insAG (n.2293-5_2293-4insAG) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23396425A= | CA2123418104 | MYH6 | c.2293-5T= (n.2293-5T=) | |
| 14 | g.23396425A>G | CA704273437 | MYH6 | c.2293-5T>C (n.2293-5T>C) | dbSNP |
| 14 | g.23396425A>T | CA7115505 | MYH6 | c.2293-5T>A (n.2293-5T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23396426G>A | CA2624246511 | MYH6 | c.2293-6C>T (n.2293-6C>T) | gnomAD v4 |
| 14 | g.23396427G>A | CA2624246512 | MYH6 | c.2293-7C>T (n.2293-7C>T) | gnomAD v4 |
| 14 | g.23396428C>A | CA2123418108 | MYH6 | c.2293-8G>T (n.2293-8G>T) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23396428C= | CA2123418107 | MYH6 | c.2293-8G= (n.2293-8G=) | |
| 14 | g.23396431G>A | CA7115506 | MYH6 | c.2293-11C>T (n.2293-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396431G>C | CA2624246514 | MYH6 | c.2293-11C>G (n.2293-11C>G) | gnomAD v4 |
| 14 | g.23396431G= | CA2123418111 | MYH6 | c.2293-11C= (n.2293-11C=) | |
| 14 | g.23396431G>T | CA2624246516 | MYH6 | c.2293-11C>A (n.2293-11C>A) | gnomAD v4 |
| 14 | g.23396432G>A | CA7115507 | MYH6 | c.2293-12C>T (n.2293-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396432G>C | CA134272 | MYH6 | c.2293-12C>G (n.2293-12C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396432G= | CA2123418116 | MYH6 | c.2293-12C= (n.2293-12C=) | |
| 14 | g.23396433G>A | CA2624246525 | MYH6 | c.2293-13C>T (n.2293-13C>T) | gnomAD v4 |
| 14 | g.23396435T>C | CA2123418124 | MYH6 | c.2293-15A>G (n.2293-15A>G) | dbSNP |
| 14 | g.23396435T= | CA2123418122 | MYH6 | c.2293-15A= (n.2293-15A=) | |
| 14 | g.23396437G>A | CA2624246530 | MYH6 | c.2293-17C>T (n.2293-17C>T) | gnomAD v4 |
| 14 | g.23396437G>C | CA7115508 | MYH6 | c.2293-17C>G (n.2293-17C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396437G= | CA2123418129 | MYH6 | c.2293-17C= (n.2293-17C=) | |
| 14 | g.23396437G>T | CA2624246531 | MYH6 | c.2293-17C>A (n.2293-17C>A) | gnomAD v4 |
| 14 | g.23396438A= | CA2123418135 | MYH6 | c.2293-18T= (n.2293-18T=) | |
| 14 | g.23396438A>G | CA612933856 | MYH6 | c.2293-18T>C (n.2293-18T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396439T>C | CA7115509 | MYH6 | c.2293-19A>G (n.2293-19A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23396439T>G | CA961064191 | MYH6 | c.2293-19A>C (n.2293-19A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23396439T= | CA2123418140 | MYH6 | c.2293-19A= (n.2293-19A=) | |
| 14 | g.23396440G>A | CA2624246539 | MYH6 | c.2293-20C>T (n.2293-20C>T) | gnomAD v4 |