OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23419960C>A | CA389043298 | MYH7 | c.3611G>T (p.Gly1204Val) | |
| 14 | g.23419960C= | CA2123446295 | MYH7 | c.3611G= (p.Gly1204=) | |
| 14 | g.23419960C>G | CA389043300 | MYH7 | c.3611G>C (p.Gly1204Ala) | |
| 14 | g.23419960C>T | CA038065 | MYH7 | c.3611G>A (p.Gly1204Asp) | dbSNP ExAC gnomAD v2 |
| 14 | g.23419961C>A | CA389043302 | MYH7 | c.3610G>T (p.Gly1204Cys) | |
| 14 | g.23419961C= | CA2123446298 | MYH7 | c.3610G= (p.Gly1204=) | |
| 14 | g.23419961C>G | CA013846 | MYH7 | c.3610G>C (p.Gly1204Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419961C>T | CA038038 | MYH7 | c.3610G>A (p.Gly1204Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419962C>A | CA485766682 | MYH7 | c.3609G>T (p.Leu1203=) | ClinVar dbSNP |
| 14 | g.23419962C= | CA2123446304 | MYH7 | c.3609G= (p.Leu1203=) | |
| 14 | g.23419962C>G | CA485766683 | MYH7 | c.3609G>C (p.Leu1203=) | |
| 14 | g.23419962C>T | CA485766684 | MYH7 | c.3609G>A (p.Leu1203=) | |
| 14 | g.23419963A>C | CA389043305 | MYH7 | c.3608T>G (p.Leu1203Arg) | |
| 14 | g.23419963A>G | CA389043307 | MYH7 | c.3608T>C (p.Leu1203Pro) | |
| 14 | g.23419963A>T | CA389043306 | MYH7 | c.3608T>A (p.Leu1203Gln) | |
| 14 | g.23419964G>A | CA485766685 | MYH7 | c.3607C>T (p.Leu1203=) | ClinVar gnomAD v4 |
| 14 | g.23419964G>C | CA389043309 | MYH7 | c.3607C>G (p.Leu1203Val) | |
| 14 | g.23419964G>T | CA389043310 | MYH7 | c.3607C>A (p.Leu1203Met) | |
| 14 | g.23419965C>A | CA389043312 | MYH7 | c.3606G>T (p.Glu1202Asp) | |
| 14 | g.23419965C= | CA2123446308 | MYH7 | c.3606G= (p.Glu1202=) | |
| 14 | g.23419965C>G | CA038018 | MYH7 | c.3606G>C (p.Glu1202Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419965C>T | CA485766686 | MYH7 | c.3606G>A (p.Glu1202=) | ClinVar dbSNP |
| 14 | g.23419966T>A | CA389043315 | MYH7 | c.3605A>T (p.Glu1202Val) | |
| 14 | g.23419966T>C | CA389043316 | MYH7 | c.3605A>G (p.Glu1202Gly) | |
| 14 | g.23419966T>G | CA389043318 | MYH7 | c.3605A>C (p.Glu1202Ala) | |
| 14 | g.23419967C>A | CA037993 | MYH7 | c.3604G>T (p.Glu1202Ter) | dbSNP ExAC gnomAD v2 |
| 14 | g.23419967C= | CA2123446310 | MYH7 | c.3604G= (p.Glu1202=) | |
| 14 | g.23419967C>G | CA389043319 | MYH7 | c.3604G>C (p.Glu1202Gln) | |
| 14 | g.23419967C>T | CA389043320 | MYH7 | c.3604G>A (p.Glu1202Lys) | ClinVar dbSNP |
| 14 | g.23419968G>A | CA485766688 | MYH7 | c.3603C>T (p.Ala1201=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419968G>C | CA013836 | MYH7 | c.3603C>G (p.Ala1201=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23419968G= | CA2123446318 | MYH7 | c.3603C= (p.Ala1201=) | |
| 14 | g.23419968G>T | CA485766687 | MYH7 | c.3603C>A (p.Ala1201=) | dbSNP |
| 14 | g.23419969G>A | CA389043323 | MYH7 | c.3602C>T (p.Ala1201Val) | |
| 14 | g.23419969G>C | CA389043325 | MYH7 | c.3602C>G (p.Ala1201Gly) | gnomAD v4 |
| 14 | g.23419969G>T | CA389043326 | MYH7 | c.3602C>A (p.Ala1201Asp) | |
| 14 | g.23419970C>A | CA389043332 | MYH7 | c.3601G>T (p.Ala1201Ser) | |
| 14 | g.23419970C>G | CA389043330 | MYH7 | c.3601G>C (p.Ala1201Pro) | |
| 14 | g.23419970C>T | CA389043328 | MYH7 | c.3601G>A (p.Ala1201Thr) | |
| 14 | g.23419971dup | CA2697553857 | MYH7 | c.3601dup (p.Ala1201GlyfsTer30) | ClinVar |
| 14 | g.23419971C>A | CA485766691 | MYH7 | c.3600G>T (p.Val1200=) | |
| 14 | g.23419971C>G | CA485766690 | MYH7 | c.3600G>C (p.Val1200=) | |
| 14 | g.23419971C>T | CA485766689 | MYH7 | c.3600G>A (p.Val1200=) | |
| 14 | g.23419972A>C | CA389043333 | MYH7 | c.3599T>G (p.Val1200Gly) | |
| 14 | g.23419972A>G | CA389043334 | MYH7 | c.3599T>C (p.Val1200Ala) | gnomAD v4 |
| 14 | g.23419972A>T | CA389043336 | MYH7 | c.3599T>A (p.Val1200Glu) | |
| 14 | g.23419973C>A | CA389043338 | MYH7 | c.3598G>T (p.Val1200Leu) | |
| 14 | g.23419973C= | CA2123446331 | MYH7 | c.3598G= (p.Val1200=) | |
| 14 | g.23419973C>G | CA389043340 | MYH7 | c.3598G>C (p.Val1200Leu) | |
| 14 | g.23419973C>T | CA037979 | MYH7 | c.3598G>A (p.Val1200Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419974G>A | CA485766692 | MYH7 | c.3597C>T (p.Ser1199=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419974G>C | CA013829 | MYH7 | c.3597C>G (p.Ser1199Arg) | ClinVar dbSNP |
| 14 | g.23419974G= | CA2123446338 | MYH7 | c.3597C= (p.Ser1199=) | |
| 14 | g.23419974G>T | CA389043342 | MYH7 | c.3597C>A (p.Ser1199Arg) | ClinVar gnomAD v4 |
| 14 | g.23419975C>A | CA389043344 | MYH7 | c.3596G>T (p.Ser1199Ile) | |
| 14 | g.23419975C= | CA2123446345 | MYH7 | c.3596G= (p.Ser1199=) | |
| 14 | g.23419975C>G | CA389043346 | MYH7 | c.3596G>C (p.Ser1199Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23419975C>T | CA389043347 | MYH7 | c.3596G>A (p.Ser1199Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23419976T>A | CA389043349 | MYH7 | c.3595A>T (p.Ser1199Cys) | |
| 14 | g.23419976T>C | CA389043350 | MYH7 | c.3595A>G (p.Ser1199Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23419976T>G | CA389043348 | MYH7 | c.3595A>C (p.Ser1199Arg) | |
| 14 | g.23419976T= | CA2123446351 | MYH7 | c.3595A= (p.Ser1199=) | |
| 14 | g.23419977G>A | CA485766693 | MYH7 | c.3594C>T (p.Asp1198=) | |
| 14 | g.23419977G>C | CA389043351 | MYH7 | c.3594C>G (p.Asp1198Glu) | gnomAD v4 |
| 14 | g.23419977G>T | CA389043352 | MYH7 | c.3594C>A (p.Asp1198Glu) | |
| 14 | g.23419978del | CA2697553858 | MYH7 | c.3593del (p.Asp1198AlafsTer16) | ClinVar |
| 14 | g.23419978T>A | CA389043354 | MYH7 | c.3593A>T (p.Asp1198Val) | |
| 14 | g.23419978T>C | CA389043355 | MYH7 | c.3593A>G (p.Asp1198Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23419978T>G | CA389043356 | MYH7 | c.3593A>C (p.Asp1198Ala) | |
| 14 | g.23419978T= | CA2123446369 | MYH7 | c.3593A= (p.Asp1198=) | |
| 14 | g.23419978_23419979delinsTC | CA2123446355 | MYH7 | c.3592_3593delinsGA (p.Asp1198=) | |
| 14 | g.23419978_23419980delinsTCG | CA2123446359 | MYH7 | c.3591_3593delinsCGA (p.Ala1197=) | |
| 14 | g.23419979del | CA037972 | MYH7 | c.3592del (p.Asp1198ThrfsTer16) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419979C>A | CA389043359 | MYH7 | c.3592G>T (p.Asp1198Tyr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419979C= | CA2123446387 | MYH7 | c.3592G= (p.Asp1198=) | |
| 14 | g.23419979C>G | CA389043360 | MYH7 | c.3592G>C (p.Asp1198His) | |
| 14 | g.23419979C>T | CA013820 | MYH7 | c.3592G>A (p.Asp1198Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23419979_23419980delinsGCTTCTT | CA10576954 | MYH7 | c.3591_3592delinsAAGAAGC (p.Asp1198ArgfsTer18) | ClinVar dbSNP |
| 14 | g.23419980G>A | CA257815584 | MYH7 | c.3591C>T (p.Ala1197=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419980G>C | CA485766694 | MYH7 | c.3591C>G (p.Ala1197=) | ClinVar |
| 14 | g.23419980G= | CA2123446404 | MYH7 | c.3591C= (p.Ala1197=) | |
| 14 | g.23419980G>T | CA485766695 | MYH7 | c.3591C>A (p.Ala1197=) | |
| 14 | g.23419980_23419981insCTTCTT | CA037944 | MYH7 | c.3590_3591insAAGAAG (p.Ala1197_Asp1198insArgSer) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419981G>A | CA389043366 | MYH7 | c.3590C>T (p.Ala1197Val) | |
| 14 | g.23419981G>C | CA389043365 | MYH7 | c.3590C>G (p.Ala1197Gly) | |
| 14 | g.23419981G>T | CA389043363 | MYH7 | c.3590C>A (p.Ala1197Asp) | |
| 14 | g.23419982C>A | CA389043368 | MYH7 | c.3589G>T (p.Ala1197Ser) | |
| 14 | g.23419982C= | CA2123446411 | MYH7 | c.3589G= (p.Ala1197=) | |
| 14 | g.23419982C>G | CA389043370 | MYH7 | c.3589G>C (p.Ala1197Pro) | |
| 14 | g.23419982C>T | CA389043371 | MYH7 | c.3589G>A (p.Ala1197Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419983G>A | CA037926 | MYH7 | c.3588C>T (p.His1196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419983G>C | CA389043373 | MYH7 | c.3588C>G (p.His1196Gln) | gnomAD v4 |
| 14 | g.23419983G= | CA2123446416 | MYH7 | c.3588C= (p.His1196=) | |
| 14 | g.23419983G>T | CA389043375 | MYH7 | c.3588C>A (p.His1196Gln) | |
| 14 | g.23419984T>A | CA389043377 | MYH7 | c.3587A>T (p.His1196Leu) | |
| 14 | g.23419984T>C | CA389043380 | MYH7 | c.3587A>G (p.His1196Arg) | |
| 14 | g.23419984T>G | CA389043378 | MYH7 | c.3587A>C (p.His1196Pro) | |
| 14 | g.23419985G>A | CA389043383 | MYH7 | c.3586C>T (p.His1196Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419985G>C | CA389043384 | MYH7 | c.3586C>G (p.His1196Asp) | |
| 14 | g.23419985G= | CA2123446417 | MYH7 | c.3586C= (p.His1196=) | |
| 14 | g.23419985G>T | CA389043385 | MYH7 | c.3586C>A (p.His1196Asn) | |
| 14 | g.23419986C>A | CA389043387 | MYH7 | c.3585G>T (p.Lys1195Asn) | |
| 14 | g.23419986C>G | CA389043389 | MYH7 | c.3585G>C (p.Lys1195Asn) | |
| 14 | g.23419986C>T | CA485766696 | MYH7 | c.3585G>A (p.Lys1195=) | |
| 14 | g.23419987T>A | CA389043392 | MYH7 | c.3584A>T (p.Lys1195Met) | |
| 14 | g.23419987T>C | CA389043394 | MYH7 | c.3584A>G (p.Lys1195Arg) | |
| 14 | g.23419987T>G | CA389043391 | MYH7 | c.3584A>C (p.Lys1195Thr) | |
| 14 | g.23419988T>A | CA389043399 | MYH7 | c.3583A>T (p.Lys1195Ter) | |
| 14 | g.23419988T>C | CA389043395 | MYH7 | c.3583A>G (p.Lys1195Glu) | |
| 14 | g.23419988T>G | CA389043397 | MYH7 | c.3583A>C (p.Lys1195Gln) | gnomAD v4 |
| 14 | g.23419989C>A | CA389043400 | MYH7 | c.3582G>T (p.Lys1194Asn) | |
| 14 | g.23419989C>G | CA389043401 | MYH7 | c.3582G>C (p.Lys1194Asn) | |
| 14 | g.23419989C>T | CA485766697 | MYH7 | c.3582G>A (p.Lys1194=) | |
| 14 | g.23419990T>A | CA389043403 | MYH7 | c.3581A>T (p.Lys1194Met) | |
| 14 | g.23419990T>C | CA389043404 | MYH7 | c.3581A>G (p.Lys1194Arg) | |
| 14 | g.23419990T>G | CA389043406 | MYH7 | c.3581A>C (p.Lys1194Thr) | |
| 14 | g.23419991T>A | CA389043408 | MYH7 | c.3580A>T (p.Lys1194Ter) | |
| 14 | g.23419991T>C | CA389043409 | MYH7 | c.3580A>G (p.Lys1194Glu) | |
| 14 | g.23419991T>G | CA389043410 | MYH7 | c.3580A>C (p.Lys1194Gln) | |
| 14 | g.23419992G>A | CA485766698 | MYH7 | c.3579C>T (p.Arg1193=) | |
| 14 | g.23419992G>C | CA485766699 | MYH7 | c.3579C>G (p.Arg1193=) | gnomAD v4 |
| 14 | g.23419992G>T | CA485766700 | MYH7 | c.3579C>A (p.Arg1193=) | |
| 14 | g.23419993C>A | CA389043412 | MYH7 | c.3578G>T (p.Arg1193Leu) | |
| 14 | g.23419993C= | CA2123446419 | MYH7 | c.3578G= (p.Arg1193=) | |
| 14 | g.23419993C>G | CA389043413 | MYH7 | c.3578G>C (p.Arg1193Pro) | |
| 14 | g.23419993C>T | CA013815 | MYH7 | c.3578G>A (p.Arg1193His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23419994G>A | CA389043416 | MYH7 | c.3577C>T (p.Arg1193Cys) | ClinVar dbSNP |
| 14 | g.23419994G>C | CA389043415 | MYH7 | c.3577C>G (p.Arg1193Gly) | ClinVar |
| 14 | g.23419994G= | CA2123446428 | MYH7 | c.3577C= (p.Arg1193=) | |
| 14 | g.23419994G>T | CA10587766 | MYH7 | c.3577C>A (p.Arg1193Ser) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419995del | CA2697553860 | MYH7 | c.3576del (p.Arg1193AlafsTer21) | ClinVar |
| 14 | g.23419995C>A | CA485766701 | MYH7 | c.3576G>T (p.Leu1192=) | |
| 14 | g.23419995C= | CA2123446436 | MYH7 | c.3576G= (p.Leu1192=) | |
| 14 | g.23419995C>G | CA485766702 | MYH7 | c.3576G>C (p.Leu1192=) | |
| 14 | g.23419995C>T | CA037902 | MYH7 | c.3576G>A (p.Leu1192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419996A>C | CA389043419 | MYH7 | c.3575T>G (p.Leu1192Arg) | ClinVar |
| 14 | g.23419996A>G | CA389043421 | MYH7 | c.3575T>C (p.Leu1192Pro) | |
| 14 | g.23419996A>T | CA389043422 | MYH7 | c.3575T>A (p.Leu1192Gln) | |
| 14 | g.23419997G>A | CA485766703 | MYH7 | c.3574C>T (p.Leu1192=) | |
| 14 | g.23419997G>C | CA389043424 | MYH7 | c.3574C>G (p.Leu1192Val) | |
| 14 | g.23419997G>T | CA389043425 | MYH7 | c.3574C>A (p.Leu1192Met) | |
| 14 | g.23419999_23420011del | CA2695219244 | MYH7 | c.3562_3574del (p.Thr1188CysfsTer22) | |
| 14 | g.23419998G>A | CA485766704 | MYH7 | c.3573C>T (p.Ala1191=) | gnomAD v4 |
| 14 | g.23419998G>C | CA485766705 | MYH7 | c.3573C>G (p.Ala1191=) | gnomAD v4 |
| 14 | g.23419998G>T | CA485766706 | MYH7 | c.3573C>A (p.Ala1191=) | |
| 14 | g.23419998_23419999insCCACT | CA2697553861 | MYH7 | c.3572_3573insAGTGG (p.Leu1192ValfsTer24) | ClinVar |
| 14 | g.23419999G>A | CA389043427 | MYH7 | c.3572C>T (p.Ala1191Val) | ClinVar dbSNP |
| 14 | g.23419999G>C | CA389043429 | MYH7 | c.3572C>G (p.Ala1191Gly) | |
| 14 | g.23419999G= | CA2123446443 | MYH7 | c.3572C= (p.Ala1191=) | |
| 14 | g.23419999G>T | CA389043430 | MYH7 | c.3572C>A (p.Ala1191Asp) | ClinVar dbSNP COSMIC |
| 14 | g.23420000C>A | CA389043431 | MYH7 | c.3571G>T (p.Ala1191Ser) | |
| 14 | g.23420000C= | CA2123446445 | MYH7 | c.3571G= (p.Ala1191=) | |
| 14 | g.23420000C>G | CA389043433 | MYH7 | c.3571G>C (p.Ala1191Pro) | |
| 14 | g.23420000C>T | CA037869 | MYH7 | c.3571G>A (p.Ala1191Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23420001C>A | CA485766707 | MYH7 | c.3570G>T (p.Ala1190=) | |
| 14 | g.23420001C= | CA2123446450 | MYH7 | c.3570G= (p.Ala1190=) | |
| 14 | g.23420001C>G | CA485766708 | MYH7 | c.3570G>C (p.Ala1190=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23420001C>T | CA037849 | MYH7 | c.3570G>A (p.Ala1190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23420002G>A | CA389043439 | MYH7 | c.3569C>T (p.Ala1190Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23420002G>C | CA389043436 | MYH7 | c.3569C>G (p.Ala1190Gly) | |
| 14 | g.23420002G= | CA2123446453 | MYH7 | c.3569C= (p.Ala1190=) | |
| 14 | g.23420002G>T | CA389043438 | MYH7 | c.3569C>A (p.Ala1190Glu) | gnomAD v4 |
| 14 | g.23420003C>A | CA389043441 | MYH7 | c.3568G>T (p.Ala1190Ser) | ClinVar |
| 14 | g.23420003C>G | CA389043442 | MYH7 | c.3568G>C (p.Ala1190Pro) | |
| 14 | g.23420003C>T | CA389043443 | MYH7 | c.3568G>A (p.Ala1190Thr) | ClinVar gnomAD v4 |
| 14 | g.23420004G>A | CA485766711 | MYH7 | c.3567C>T (p.Ala1189=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23420004G>C | CA485766710 | MYH7 | c.3567C>G (p.Ala1189=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23420004G= | CA2123446463 | MYH7 | c.3567C= (p.Ala1189=) | |
| 14 | g.23420004G>T | CA485766709 | MYH7 | c.3567C>A (p.Ala1189=) | |
| 14 | g.23420005G>A | CA389043445 | MYH7 | c.3566C>T (p.Ala1189Val) | |
| 14 | g.23420005G>C | CA389043447 | MYH7 | c.3566C>G (p.Ala1189Gly) | |
| 14 | g.23420005G>T | CA389043448 | MYH7 | c.3566C>A (p.Ala1189Asp) | |
| 14 | g.23420005_23420006insGAGTGGCCTCGTGCTG | CA2624231696 | MYH7 | c.3566_3567insAGCACGAGGCCACTCC (p.Ala1191ArgfsTer?) | gnomAD v4 |
| 14 | g.23420006C>A | CA389043452 | MYH7 | c.3565G>T (p.Ala1189Ser) | |
| 14 | g.23420006C>G | CA389043454 | MYH7 | c.3565G>C (p.Ala1189Pro) | |
| 14 | g.23420006C>T | CA389043455 | MYH7 | c.3565G>A (p.Ala1189Thr) | gnomAD v4 |
| 14 | g.23420007A= | CA2123446472 | MYH7 | c.3564T= (p.Thr1188=) | |
| 14 | g.23420007A>C | CA485766712 | MYH7 | c.3564T>G (p.Thr1188=) | |
| 14 | g.23420007A>G | CA013805 | MYH7 | c.3564T>C (p.Thr1188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23420007A>T | CA485766713 | MYH7 | c.3564T>A (p.Thr1188=) | dbSNP |
| 14 | g.23420007_23420011del | CA2697553862 | MYH7 | c.3560_3564del (p.Ala1187GlyfsTer?) | ClinVar |
| 14 | g.23420008G>A | CA389043459 | MYH7 | c.3563C>T (p.Thr1188Ile) | ClinVar dbSNP |
| 14 | g.23420008G>C | CA389043460 | MYH7 | c.3563C>G (p.Thr1188Ser) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23420008G= | CA2123446483 | MYH7 | c.3563C= (p.Thr1188=) | |
| 14 | g.23420008G>T | CA389043458 | MYH7 | c.3563C>A (p.Thr1188Asn) | |
| 14 | g.23420009T>A | CA389043462 | MYH7 | c.3562A>T (p.Thr1188Ser) | |
| 14 | g.23420009T>C | CA389043464 | MYH7 | c.3562A>G (p.Thr1188Ala) | dbSNP gnomAD v4 |
| 14 | g.23420009T>G | CA389043465 | MYH7 | c.3562A>C (p.Thr1188Pro) | gnomAD v4 |
| 14 | g.23420009T= | CA2123446489 | MYH7 | c.3562A= (p.Thr1188=) | |
| 14 | g.23420010G>A | CA485766714 | MYH7 | c.3561C>T (p.Ala1187=) | |
| 14 | g.23420010G>C | CA485766716 | MYH7 | c.3561C>G (p.Ala1187=) | |
| 14 | g.23420010G>T | CA485766715 | MYH7 | c.3561C>A (p.Ala1187=) | |
| 14 | g.23420011G>A | CA389043467 | MYH7 | c.3560C>T (p.Ala1187Val) | ClinVar gnomAD v4 |
| 14 | g.23420011G>C | CA389043468 | MYH7 | c.3560C>G (p.Ala1187Gly) | |
| 14 | g.23420011G>T | CA389043469 | MYH7 | c.3560C>A (p.Ala1187Asp) | |
| 14 | g.23420012C>A | CA389043471 | MYH7 | c.3559G>T (p.Ala1187Ser) | |
| 14 | g.23420012C>G | CA389043475 | MYH7 | c.3559G>C (p.Ala1187Pro) | |
| 14 | g.23420012C>T | CA389043473 | MYH7 | c.3559G>A (p.Ala1187Thr) | |
| 14 | g.23420013C>A | CA389043481 | MYH7 | c.3558G>T (p.Glu1186Asp) | |
| 14 | g.23420013C= | CA2123446496 | MYH7 | c.3558G= (p.Glu1186=) | |
| 14 | g.23420013C>G | CA389043482 | MYH7 | c.3558G>C (p.Glu1186Asp) | |
| 14 | g.23420013C>T | CA485766717 | MYH7 | c.3558G>A (p.Glu1186=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23420014T>A | CA389043484 | MYH7 | c.3557A>T (p.Glu1186Val) | |
| 14 | g.23420014T>C | CA389043486 | MYH7 | c.3557A>G (p.Glu1186Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23420014T>G | CA389043487 | MYH7 | c.3557A>C (p.Glu1186Ala) | |
| 14 | g.23420014T= | CA2123446503 | MYH7 | c.3557A= (p.Glu1186=) | |
| 14 | g.23420014_23420015insG | CA2697553864 | MYH7 | c.3556_3557insC (p.Glu1186AlafsTer?) | ClinVar |
| 14 | g.23420015C>A | CA389043490 | MYH7 | c.3556G>T (p.Glu1186Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23420015C= | CA2123446511 | MYH7 | c.3556G= (p.Glu1186=) | |
| 14 | g.23420015C>G | CA389043492 | MYH7 | c.3556G>C (p.Glu1186Gln) | ClinVar dbSNP |
| 14 | g.23420015C>T | CA389043489 | MYH7 | c.3556G>A (p.Glu1186Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23420016G>A | CA485766718 | MYH7 | c.3555C>T (p.His1185=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23420016G>C | CA389043495 | MYH7 | c.3555C>G (p.His1185Gln) | ClinVar gnomAD v4 |
| 14 | g.23420016G= | CA2123446517 | MYH7 | c.3555C= (p.His1185=) | |
| 14 | g.23420016G>T | CA389043493 | MYH7 | c.3555C>A (p.His1185Gln) | |
| 14 | g.23420016_23420017insCAAGAAGCA | CA2697553865 | MYH7 | c.3554_3555insTGCTTCTTG (p.His1185_Glu1186insAlaSerCys) | ClinVar |
| 14 | g.23420017T>A | CA389043497 | MYH7 | c.3554A>T (p.His1185Leu) | |
| 14 | g.23420017T>C | CA389043496 | MYH7 | c.3554A>G (p.His1185Arg) | ClinVar |
| 14 | g.23420017T>G | CA389043499 | MYH7 | c.3554A>C (p.His1185Pro) | ClinVar gnomAD v4 |
| 14 | g.23420018G>A | CA389043501 | MYH7 | c.3553C>T (p.His1185Tyr) | |
| 14 | g.23420018G>C | CA389043504 | MYH7 | c.3553C>G (p.His1185Asp) | |
| 14 | g.23420018G>T | CA389043503 | MYH7 | c.3553C>A (p.His1185Asn) | |
| 14 | g.23420019C>A | CA389043505 | MYH7 | c.3552G>T (p.Gln1184His) | |
| 14 | g.23420019C>G | CA389043506 | MYH7 | c.3552G>C (p.Gln1184His) | |
| 14 | g.23420019C>T | CA485766719 | MYH7 | c.3552G>A (p.Gln1184=) | |
| 14 | g.23420020T>A | CA013801 | MYH7 | c.3551A>T (p.Gln1184Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23420020T>C | CA389043509 | MYH7 | c.3551A>G (p.Gln1184Arg) | ClinVar dbSNP |
| 14 | g.23420020T>G | CA389043511 | MYH7 | c.3551A>C (p.Gln1184Pro) | |
| 14 | g.23420020T= | CA2123446531 | MYH7 | c.3551A= (p.Gln1184=) | |
| 14 | g.23420021G>A | CA389043512 | MYH7 | c.3550C>T (p.Gln1184Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23420021G>C | CA389043514 | MYH7 | c.3550C>G (p.Gln1184Glu) | |
| 14 | g.23420021G>T | CA389043516 | MYH7 | c.3550C>A (p.Gln1184Lys) | |
| 14 | g.23420021_23420022insA | CA2697553866 | MYH7 | c.3549_3550insT (p.Gln1184SerfsTer?) | ClinVar |
| 14 | g.23420022C>A | CA485766720 | MYH7 | c.3549G>T (p.Leu1183=) | |
| 14 | g.23420022C>G | CA485766721 | MYH7 | c.3549G>C (p.Leu1183=) | |
| 14 | g.23420022C>T | CA485766722 | MYH7 | c.3549G>A (p.Leu1183=) | |
| 14 | g.23420023A= | CA2123446537 | MYH7 | c.3548T= (p.Leu1183=) | |
| 14 | g.23420023A>C | CA389043517 | MYH7 | c.3548T>G (p.Leu1183Arg) | |
| 14 | g.23420023A>G | CA389043519 | MYH7 | c.3548T>C (p.Leu1183Pro) | |
| 14 | g.23420023A>T | CA037799 | MYH7 | c.3548T>A (p.Leu1183Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23420024G>A | CA485766723 | MYH7 | c.3547C>T (p.Leu1183=) | gnomAD v4 |
| 14 | g.23420024G>C | CA389043522 | MYH7 | c.3547C>G (p.Leu1183Val) | |
| 14 | g.23420024G>T | CA389043521 | MYH7 | c.3547C>A (p.Leu1183Met) | |
| 14 | g.23420025C>A | CA485766724 | MYH7 | c.3546G>T (p.Thr1182=) | |
| 14 | g.23420025C>G | CA485766725 | MYH7 | c.3546G>C (p.Thr1182=) | |
| 14 | g.23420025C>T | CA485766726 | MYH7 | c.3546G>A (p.Thr1182=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23420026G>A | CA389043524 | MYH7 | c.3545C>T (p.Thr1182Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23420026G>C | CA389043526 | MYH7 | c.3545C>G (p.Thr1182Arg) | gnomAD v4 |
| 14 | g.23420026G= | CA2123446542 | MYH7 | c.3545C= (p.Thr1182=) | |
| 14 | g.23420026G>T | CA389043527 | MYH7 | c.3545C>A (p.Thr1182Lys) | |
| 14 | g.23420027T>A | CA389043529 | MYH7 | c.3544A>T (p.Thr1182Ser) | |
| 14 | g.23420027T>C | CA389043530 | MYH7 | c.3544A>G (p.Thr1182Ala) | |
| 14 | g.23420027T>G | CA389043532 | MYH7 | c.3544A>C (p.Thr1182Pro) | |
| 14 | g.23420028G>A | CA485766727 | MYH7 | c.3543C>T (p.Ala1181=) | |
| 14 | g.23420028G>C | CA485766728 | MYH7 | c.3543C>G (p.Ala1181=) | |
| 14 | g.23420028G>T | CA485766729 | MYH7 | c.3543C>A (p.Ala1181=) | |
| 14 | g.23420029G>A | CA389043533 | MYH7 | c.3542C>T (p.Ala1181Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23420029G>C | CA389043535 | MYH7 | c.3542C>G (p.Ala1181Gly) | |
| 14 | g.23420029G= | CA2123446551 | MYH7 | c.3542C= (p.Ala1181=) | |
| 14 | g.23420029G>T | CA389043537 | MYH7 | c.3542C>A (p.Ala1181Asp) | ClinVar gnomAD v4 |
| 14 | g.23420030C>A | CA389043538 | MYH7 | c.3541G>T (p.Ala1181Ser) | |
| 14 | g.23420030C>G | CA389043540 | MYH7 | c.3541G>C (p.Ala1181Pro) | |
| 14 | g.23420030C>T | CA389043541 | MYH7 | c.3541G>A (p.Ala1181Thr) | |
| 14 | g.23420031C>A | CA389043542 | MYH7 | c.3540G>T (p.Glu1180Asp) | |
| 14 | g.23420031C>G | CA389043544 | MYH7 | c.3540G>C (p.Glu1180Asp) | |
| 14 | g.23420031C>T | CA485766730 | MYH7 | c.3540G>A (p.Glu1180=) | |
| 14 | g.23420032T>A | CA389043546 | MYH7 | c.3539A>T (p.Glu1180Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23420032T>C | CA389043547 | MYH7 | c.3539A>G (p.Glu1180Gly) | |
| 14 | g.23420032T>G | CA389043549 | MYH7 | c.3539A>C (p.Glu1180Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23420032T= | CA2123446557 | MYH7 | c.3539A= (p.Glu1180=) | |
| 14 | g.23420033C>A | CA389043550 | MYH7 | c.3538G>T (p.Glu1180Ter) | |
| 14 | g.23420033C= | CA2123446567 | MYH7 | c.3538G= (p.Glu1180=) | |
| 14 | g.23420033C>G | CA389043551 | MYH7 | c.3538G>C (p.Glu1180Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23420033C>T | CA389043553 | MYH7 | c.3538G>A (p.Glu1180Lys) | gnomAD v4 |
| 14 | g.23420034C>A | CA389043555 | MYH7 | c.3537G>T (p.Glu1179Asp) | |
| 14 | g.23420034C>G | CA389043557 | MYH7 | c.3537G>C (p.Glu1179Asp) | |
| 14 | g.23420034C>T | CA485766731 | MYH7 | c.3537G>A (p.Glu1179=) | |
| 14 | g.23420035T>A | CA389043558 | MYH7 | c.3536A>T (p.Glu1179Val) | ClinVar |
| 14 | g.23420035T>C | CA389043559 | MYH7 | c.3536A>G (p.Glu1179Gly) | |
| 14 | g.23420035T>G | CA389043561 | MYH7 | c.3536A>C (p.Glu1179Ala) | |
| 14 | g.23420036C>A | CA389043566 | MYH7 | c.3535G>T (p.Glu1179Ter) | |
| 14 | g.23420036C= | CA2123446569 | MYH7 | c.3535G= (p.Glu1179=) | |
| 14 | g.23420036C>G | CA389043565 | MYH7 | c.3535G>C (p.Glu1179Gln) | dbSNP |
| 14 | g.23420036C>T | CA389043563 | MYH7 | c.3535G>A (p.Glu1179Lys) | |
| 14 | g.23420037C>A | CA485766732 | MYH7 | c.3534G>T (p.Leu1178=) | |
| 14 | g.23420037C>G | CA485766733 | MYH7 | c.3534G>C (p.Leu1178=) | |
| 14 | g.23420037C>T | CA485766734 | MYH7 | c.3534G>A (p.Leu1178=) | ClinVar |
| 14 | g.23420038A>C | CA389043567 | MYH7 | c.3533T>G (p.Leu1178Arg) | ClinVar |
| 14 | g.23420038A>G | CA389043569 | MYH7 | c.3533T>C (p.Leu1178Pro) | |
| 14 | g.23420038A>T | CA389043570 | MYH7 | c.3533T>A (p.Leu1178Gln) | |
| 14 | g.23420039G>A | CA485766735 | MYH7 | c.3532C>T (p.Leu1178=) | |
| 14 | g.23420039G>C | CA037791 | MYH7 | c.3532C>G (p.Leu1178Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23420039G= | CA2123446574 | MYH7 | c.3532C= (p.Leu1178=) | |
| 14 | g.23420039G>T | CA389043572 | MYH7 | c.3532C>A (p.Leu1178Met) | |
| 14 | g.23420040G>A | CA485766736 | MYH7 | c.3531C>T (p.Asp1177=) | gnomAD v4 |
| 14 | g.23420040G>C | CA389043573 | MYH7 | c.3531C>G (p.Asp1177Glu) | |
| 14 | g.23420040G>T | CA389043575 | MYH7 | c.3531C>A (p.Asp1177Glu) | |
| 14 | g.23420041T>A | CA389043577 | MYH7 | c.3530A>T (p.Asp1177Val) | |
| 14 | g.23420041T>C | CA389043579 | MYH7 | c.3530A>G (p.Asp1177Gly) | |
| 14 | g.23420041T>G | CA389043580 | MYH7 | c.3530A>C (p.Asp1177Ala) | |
| 14 | g.23420042C>A | CA389043581 | MYH7 | c.3529G>T (p.Asp1177Tyr) | |
| 14 | g.23420042C= | CA2123446576 | MYH7 | c.3529G= (p.Asp1177=) | |
| 14 | g.23420042C>G | CA389043582 | MYH7 | c.3529G>C (p.Asp1177His) | |
| 14 | g.23420042C>T | CA389043584 | MYH7 | c.3529G>A (p.Asp1177Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23420043C>A | CA485766737 | MYH7 | c.3528G>T (p.Arg1176=) | |
| 14 | g.23420043C>G | CA485766738 | MYH7 | c.3528G>C (p.Arg1176=) | |
| 14 | g.23420043C>T | CA485766739 | MYH7 | c.3528G>A (p.Arg1176=) | |
| 14 | g.23420044C>A | CA389043587 | MYH7 | c.3527G>T (p.Arg1176Leu) | |
| 14 | g.23420044C>G | CA389043589 | MYH7 | c.3527G>C (p.Arg1176Pro) | |
| 14 | g.23420044C>T | CA389043586 | MYH7 | c.3527G>A (p.Arg1176Gln) | gnomAD v4 COSMIC |
| 14 | g.23420045_23420052del | CA2590018541 | MYH7 | c.3520_3527del (p.Met1174GlyfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23420045G>A | CA389043590 | MYH7 | c.3526C>T (p.Arg1176Trp) | gnomAD v4 COSMIC |
| 14 | g.23420045G>C | CA389043591 | MYH7 | c.3526C>G (p.Arg1176Gly) | |
| 14 | g.23420045G= | CA2123446583 | MYH7 | c.3526C= (p.Arg1176=) | |
| 14 | g.23420045G>T | CA485766740 | MYH7 | c.3526C>A (p.Arg1176=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23420046C>A | CA485766741 | MYH7 | c.3525G>T (p.Arg1175=) | dbSNP |
| 14 | g.23420046C= | CA2123446587 | MYH7 | c.3525G= (p.Arg1175=) | |
| 14 | g.23420046C>G | CA485766742 | MYH7 | c.3525G>C (p.Arg1175=) | |
| 14 | g.23420046C>T | CA485766743 | MYH7 | c.3525G>A (p.Arg1175=) | dbSNP gnomAD v2 |
| 14 | g.23420047C>A | CA389043593 | MYH7 | c.3524G>T (p.Arg1175Leu) | |
| 14 | g.23420047C= | CA2123446591 | MYH7 | c.3524G= (p.Arg1175=) | |
| 14 | g.23420047C>G | CA389043595 | MYH7 | c.3524G>C (p.Arg1175Pro) | |
| 14 | g.23420047C>T | CA037775 | MYH7 | c.3524G>A (p.Arg1175Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23420048G>A | CA037752 | MYH7 | c.3523C>T (p.Arg1175Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23420048G>C | CA389043597 | MYH7 | c.3523C>G (p.Arg1175Gly) | gnomAD v4 |
| 14 | g.23420048G= | CA2123446597 | MYH7 | c.3523C= (p.Arg1175=) | |
| 14 | g.23420048G>T | CA485766744 | MYH7 | c.3523C>A (p.Arg1175=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23420049C>A | CA389043599 | MYH7 | c.3522G>T (p.Met1174Ile) | |
| 14 | g.23420049C>G | CA389043601 | MYH7 | c.3522G>C (p.Met1174Ile) | |
| 14 | g.23420049C>T | CA389043602 | MYH7 | c.3522G>A (p.Met1174Ile) | |
| 14 | g.23420050A>C | CA389043604 | MYH7 | c.3521T>G (p.Met1174Arg) | |
| 14 | g.23420050A>G | CA389043605 | MYH7 | c.3521T>C (p.Met1174Thr) | |
| 14 | g.23420050A>T | CA389043606 | MYH7 | c.3521T>A (p.Met1174Lys) | |
| 14 | g.23420051T>A | CA389043611 | MYH7 | c.3520A>T (p.Met1174Leu) | |
| 14 | g.23420051T>C | CA389043608 | MYH7 | c.3520A>G (p.Met1174Val) | |
| 14 | g.23420051T>G | CA389043610 | MYH7 | c.3520A>C (p.Met1174Leu) | ClinVar dbSNP |
| 14 | g.23420051T= | CA2123446609 | MYH7 | c.3520A= (p.Met1174=) | |
| 14 | g.23420052C>A | CA389043613 | MYH7 | c.3519G>T (p.Lys1173Asn) | |
| 14 | g.23420052C>G | CA389043614 | MYH7 | c.3519G>C (p.Lys1173Asn) | |
| 14 | g.23420052C>T | CA485766746 | MYH7 | c.3519G>A (p.Lys1173=) | gnomAD v4 |
| 14 | g.23420053T>A | CA389043617 | MYH7 | c.3518A>T (p.Lys1173Met) | |
| 14 | g.23420053T>C | CA389043618 | MYH7 | c.3518A>G (p.Lys1173Arg) | dbSNP gnomAD v2 |
| 14 | g.23420053T>G | CA389043621 | MYH7 | c.3518A>C (p.Lys1173Thr) | |
| 14 | g.23420053T= | CA2123446619 | MYH7 | c.3518A= (p.Lys1173=) | |
| 14 | g.23420054del | CA2695219245 | MYH7 | c.3518del (p.Lys1173ArgfsTer?) | |
| 14 | g.23420054T>A | CA389043623 | MYH7 | c.3517A>T (p.Lys1173Ter) | |
| 14 | g.23420054T>C | CA037742 | MYH7 | c.3517A>G (p.Lys1173Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23420054T>G | CA389043624 | MYH7 | c.3517A>C (p.Lys1173Gln) | |
| 14 | g.23420054T= | CA2123446622 | MYH7 | c.3517A= (p.Lys1173=) | |
| 14 | g.23420055C>A | CA389043625 | MYH7 | c.3516G>T (p.Gln1172His) | |
| 14 | g.23420055C>G | CA389043626 | MYH7 | c.3516G>C (p.Gln1172His) | |
| 14 | g.23420055C>T | CA485766747 | MYH7 | c.3516G>A (p.Gln1172=) | |
| 14 | g.23420056T>A | CA389043627 | MYH7 | c.3515A>T (p.Gln1172Leu) | |
| 14 | g.23420056T>C | CA389043629 | MYH7 | c.3515A>G (p.Gln1172Arg) | |
| 14 | g.23420056T>G | CA389043630 | MYH7 | c.3515A>C (p.Gln1172Pro) | |
| 14 | g.23420057G>A | CA389043631 | MYH7 | c.3514C>T (p.Gln1172Ter) | |
| 14 | g.23420057G>C | CA389043634 | MYH7 | c.3514C>G (p.Gln1172Glu) | |
| 14 | g.23420057G>T | CA389043632 | MYH7 | c.3514C>A (p.Gln1172Lys) | gnomAD v4 |
| 14 | g.23420058G>A | CA485766751 | MYH7 | c.3513C>T (p.Phe1171=) | gnomAD v4 |
| 14 | g.23420058G>C | CA389043635 | MYH7 | c.3513C>G (p.Phe1171Leu) | |
| 14 | g.23420058G= | CA2123446626 | MYH7 | c.3513C= (p.Phe1171=) | |
| 14 | g.23420058G>T | CA389043637 | MYH7 | c.3513C>A (p.Phe1171Leu) | |
| 14 | g.23420059A>C | CA389043639 | MYH7 | c.3512T>G (p.Phe1171Cys) | |
| 14 | g.23420059A>G | CA389043640 | MYH7 | c.3512T>C (p.Phe1171Ser) | |
| 14 | g.23420059A>T | CA389043641 | MYH7 | c.3512T>A (p.Phe1171Tyr) | |
| 14 | g.23420060dup | CA961071581 | MYH7 | c.3512dup (p.Gln1172ProfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23420060A>C | CA389043642 | MYH7 | c.3511T>G (p.Phe1171Val) | |
| 14 | g.23420060A>G | CA389043644 | MYH7 | c.3511T>C (p.Phe1171Leu) | |
| 14 | g.23420060A>T | CA389043646 | MYH7 | c.3511T>A (p.Phe1171Ile) |