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 |
|---|---|---|---|---|---|
| 17 | g.10392944G>A | CA398092387 | MYH8,MYHAS | c.5350C>T (p.Arg1784Trp) n.76+9737G>A c.5446C>T (p.Arg1816Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10392944G>C | CA207949 | MYH8,MYHAS | c.5350C>G (p.Arg1784Gly) n.76+9737G>C c.5446C>G (p.Arg1816Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10392944G= | CA2247204968 | MYH8,MYHAS | c.5350C= (p.Arg1784=) n.76+9737G= c.5446C= (p.Arg1816=) | |
| 17 | g.10392944G>T | CA497837474 | MYH8,MYHAS | c.5350C>A (p.Arg1784=) n.76+9737G>T c.5446C>A (p.Arg1816=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10392945C>A | CA398092393 | MYH8,MYHAS | c.5349G>T (p.Glu1783Asp) n.76+9738C>A c.5445G>T (p.Glu1815Asp) | |
| 17 | g.10392945C= | CA2247204979 | MYH8,MYHAS | c.5349G= (p.Glu1783=) n.76+9738C= c.5445G= (p.Glu1815=) | |
| 17 | g.10392945C>G | CA398092396 | MYH8,MYHAS | c.5349G>C (p.Glu1783Asp) n.76+9738C>G c.5445G>C (p.Glu1815Asp) | |
| 17 | g.10392945C>T | CA8387060 | MYH8,MYHAS | c.5349G>A (p.Glu1783=) n.76+9738C>T c.5445G>A (p.Glu1815=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.10392946T>A | CA398092407 | MYH8,MYHAS | c.5348A>T (p.Glu1783Val) n.76+9739T>A c.5444A>T (p.Glu1815Val) | |
| 17 | g.10392946T>C | CA398092403 | MYH8,MYHAS | c.5348A>G (p.Glu1783Gly) n.76+9739T>C c.5444A>G (p.Glu1815Gly) | |
| 17 | g.10392946T>G | CA398092405 | MYH8,MYHAS | c.5348A>C (p.Glu1783Ala) n.76+9739T>G c.5444A>C (p.Glu1815Ala) | |
| 17 | g.10392947C>A | CA398092409 | MYH8,MYHAS | c.5347G>T (p.Glu1783Ter) n.76+9740C>A c.5443G>T (p.Glu1815Ter) | |
| 17 | g.10392947C= | CA2247204987 | MYH8,MYHAS | c.5347G= (p.Glu1783=) n.76+9740C= c.5443G= (p.Glu1815=) | |
| 17 | g.10392947C>G | CA398092410 | MYH8,MYHAS | c.5347G>C (p.Glu1783Gln) n.76+9740C>G c.5443G>C (p.Glu1815Gln) | |
| 17 | g.10392947C>T | CA398092411 | MYH8,MYHAS | c.5347G>A (p.Glu1783Lys) n.76+9740C>T c.5443G>A (p.Glu1815Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10392948C>A | CA497837475 | MYH8,MYHAS | c.5346G>T (p.Leu1782=) n.76+9741C>A c.5442G>T (p.Leu1814=) | |
| 17 | g.10392948C>G | CA497837476 | MYH8,MYHAS | c.5346G>C (p.Leu1782=) n.76+9741C>G c.5442G>C (p.Leu1814=) | |
| 17 | g.10392948C>T | CA497837477 | MYH8,MYHAS | c.5346G>A (p.Leu1782=) n.76+9741C>T c.5442G>A (p.Leu1814=) | |
| 17 | g.10392949A= | CA2247204995 | MYH8,MYHAS | c.5345T= (p.Leu1782=) n.76+9742A= c.5441T= (p.Leu1814=) | |
| 17 | g.10392949A>C | CA398092413 | MYH8,MYHAS | c.5345T>G (p.Leu1782Arg) n.76+9742A>C c.5441T>G (p.Leu1814Arg) | dbSNP gnomAD v2 |
| 17 | g.10392949A>G | CA398092416 | MYH8,MYHAS | c.5345T>C (p.Leu1782Pro) n.76+9742A>G c.5441T>C (p.Leu1814Pro) | |
| 17 | g.10392949A>T | CA398092419 | MYH8,MYHAS | c.5345T>A (p.Leu1782Gln) n.76+9742A>T c.5441T>A (p.Leu1814Gln) | |
| 17 | g.10392950G>A | CA497837479 | MYH8,MYHAS | c.5344C>T (p.Leu1782=) n.76+9743G>A c.5440C>T (p.Leu1814=) | |
| 17 | g.10392950G>C | CA398092420 | MYH8,MYHAS | c.5344C>G (p.Leu1782Val) n.76+9743G>C c.5440C>G (p.Leu1814Val) | |
| 17 | g.10392950G>T | CA398092421 | MYH8,MYHAS | c.5344C>A (p.Leu1782Met) n.76+9743G>T c.5440C>A (p.Leu1814Met) | gnomAD v4 |
| 17 | g.10392951G>A | CA497837480 | MYH8,MYHAS | c.5343C>T (p.His1781=) n.76+9744G>A c.5439C>T (p.His1813=) | COSMIC |
| 17 | g.10392951G>C | CA398092423 | MYH8,MYHAS | c.5343C>G (p.His1781Gln) n.76+9744G>C c.5439C>G (p.His1813Gln) | gnomAD v4 |
| 17 | g.10392951G>T | CA398092425 | MYH8,MYHAS | c.5343C>A (p.His1781Gln) n.76+9744G>T c.5439C>A (p.His1813Gln) | |
| 17 | g.10392952T>A | CA398092428 | MYH8,MYHAS | c.5342A>T (p.His1781Leu) n.76+9745T>A c.5438A>T (p.His1813Leu) | |
| 17 | g.10392952T>C | CA398092431 | MYH8,MYHAS | c.5342A>G (p.His1781Arg) n.76+9745T>C c.5438A>G (p.His1813Arg) | |
| 17 | g.10392952T>G | CA398092434 | MYH8,MYHAS | c.5342A>C (p.His1781Pro) n.76+9745T>G c.5438A>C (p.His1813Pro) | dbSNP |
| 17 | g.10392952T= | CA2247205002 | MYH8,MYHAS | c.5342A= (p.His1781=) n.76+9745T= c.5438A= (p.His1813=) | |
| 17 | g.10392953G>A | CA398092437 | MYH8,MYHAS | c.5341C>T (p.His1781Tyr) n.76+9746G>A c.5437C>T (p.His1813Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10392953G>C | CA398092442 | MYH8,MYHAS | c.5341C>G (p.His1781Asp) n.76+9746G>C c.5437C>G (p.His1813Asp) | |
| 17 | g.10392953G= | CA2247205018 | MYH8,MYHAS | c.5341C= (p.His1781=) n.76+9746G= c.5437C= (p.His1813=) | |
| 17 | g.10392953G>T | CA398092440 | MYH8,MYHAS | c.5341C>A (p.His1781Asn) n.76+9746G>T c.5437C>A (p.His1813Asn) | |
| 17 | g.10392955del | CA2636104662 | MYH8,MYHAS | c.5341del (p.His1781ThrfsTer5) n.76+9748del c.5437del (p.His1813ThrfsTer5) | gnomAD v4 |
| 17 | g.10392954G>A | CA497837483 | MYH8,MYHAS | c.5340C>T (p.Ala1780=) n.76+9747G>A c.5436C>T (p.Ala1812=) | |
| 17 | g.10392954G>C | CA497837484 | MYH8,MYHAS | c.5340C>G (p.Ala1780=) n.76+9747G>C c.5436C>G (p.Ala1812=) | |
| 17 | g.10392954G>T | CA497837486 | MYH8,MYHAS | c.5340C>A (p.Ala1780=) n.76+9747G>T c.5436C>A (p.Ala1812=) | |
| 17 | g.10392955G>A | CA398092447 | MYH8,MYHAS | c.5339C>T (p.Ala1780Val) n.76+9748G>A c.5435C>T (p.Ala1812Val) | gnomAD v4 |
| 17 | g.10392955G>C | CA398092449 | MYH8,MYHAS | c.5339C>G (p.Ala1780Gly) n.76+9748G>C c.5435C>G (p.Ala1812Gly) | |
| 17 | g.10392955G>T | CA398092453 | MYH8,MYHAS | c.5339C>A (p.Ala1780Asp) n.76+9748G>T c.5435C>A (p.Ala1812Asp) | |
| 17 | g.10392956C>A | CA398092456 | MYH8,MYHAS | c.5338G>T (p.Ala1780Ser) n.76+9749C>A c.5434G>T (p.Ala1812Ser) | |
| 17 | g.10392956C= | CA2247205037 | MYH8,MYHAS | c.5338G= (p.Ala1780=) n.76+9749C= c.5434G= (p.Ala1812=) | |
| 17 | g.10392956C>G | CA398092460 | MYH8,MYHAS | c.5338G>C (p.Ala1780Pro) n.76+9749C>G c.5434G>C (p.Ala1812Pro) | |
| 17 | g.10392956C>T | CA8387061 | MYH8,MYHAS | c.5338G>A (p.Ala1780Thr) n.76+9749C>T c.5434G>A (p.Ala1812Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.10392957G>A | CA8387062 | MYH8,MYHAS | c.5337C>T (p.Ser1779=) n.76+9750G>A c.5433C>T (p.Ser1811=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10392957G>C | CA398092469 | MYH8,MYHAS | c.5337C>G (p.Ser1779Arg) n.76+9750G>C c.5433C>G (p.Ser1811Arg) | |
| 17 | g.10392957G= | CA2247205044 | MYH8,MYHAS | c.5337C= (p.Ser1779=) n.76+9750G= c.5433C= (p.Ser1811=) | |
| 17 | g.10392957G>T | CA398092471 | MYH8,MYHAS | c.5337C>A (p.Ser1779Arg) n.76+9750G>T c.5433C>A (p.Ser1811Arg) | |
| 17 | g.10392958C>A | CA398092476 | MYH8,MYHAS | c.5336G>T (p.Ser1779Ile) n.76+9751C>A c.5432G>T (p.Ser1811Ile) | |
| 17 | g.10392958C>G | CA398092480 | MYH8,MYHAS | c.5336G>C (p.Ser1779Thr) n.76+9751C>G c.5432G>C (p.Ser1811Thr) | |
| 17 | g.10392958C>T | CA398092482 | MYH8,MYHAS | c.5336G>A (p.Ser1779Asn) n.76+9751C>T c.5432G>A (p.Ser1811Asn) | gnomAD v4 |
| 17 | g.10392959T>A | CA398092492 | MYH8,MYHAS | c.5335A>T (p.Ser1779Cys) n.76+9752T>A c.5431A>T (p.Ser1811Cys) | |
| 17 | g.10392959T>C | CA8387063 | MYH8,MYHAS | c.5335A>G (p.Ser1779Gly) n.76+9752T>C c.5431A>G (p.Ser1811Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.10392959T>G | CA398092489 | MYH8,MYHAS | c.5335A>C (p.Ser1779Arg) n.76+9752T>G c.5431A>C (p.Ser1811Arg) | |
| 17 | g.10392959T= | CA2247205053 | MYH8,MYHAS | c.5335A= (p.Ser1779=) n.76+9752T= c.5431A= (p.Ser1811=) | |
| 17 | g.10392960G>A | CA497837492 | MYH8,MYHAS | c.5334C>T (p.Thr1778=) n.76+9753G>A c.5430C>T (p.Thr1810=) | |
| 17 | g.10392960G>C | CA497837494 | MYH8,MYHAS | c.5334C>G (p.Thr1778=) n.76+9753G>C c.5430C>G (p.Thr1810=) | |
| 17 | g.10392960G>T | CA497837495 | MYH8,MYHAS | c.5334C>A (p.Thr1778=) n.76+9753G>T c.5430C>A (p.Thr1810=) | |
| 17 | g.10392961G>A | CA398092496 | MYH8,MYHAS | c.5333C>T (p.Thr1778Ile) n.76+9754G>A c.5429C>T (p.Thr1810Ile) | dbSNP gnomAD v4 |
| 17 | g.10392961G>C | CA398092499 | MYH8,MYHAS | c.5333C>G (p.Thr1778Ser) n.76+9754G>C c.5429C>G (p.Thr1810Ser) | |
| 17 | g.10392961G= | CA2247205058 | MYH8,MYHAS | c.5333C= (p.Thr1778=) n.76+9754G= c.5429C= (p.Thr1810=) | |
| 17 | g.10392961G>T | CA398092502 | MYH8,MYHAS | c.5333C>A (p.Thr1778Asn) n.76+9754G>T c.5429C>A (p.Thr1810Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.10392962T>A | CA398092508 | MYH8,MYHAS | c.5332A>T (p.Thr1778Ser) n.76+9755T>A c.5428A>T (p.Thr1810Ser) | |
| 17 | g.10392962T>C | CA398092510 | MYH8,MYHAS | c.5332A>G (p.Thr1778Ala) n.76+9755T>C c.5428A>G (p.Thr1810Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.10392962T>G | CA398092514 | MYH8,MYHAS | c.5332A>C (p.Thr1778Pro) n.76+9755T>G c.5428A>C (p.Thr1810Pro) | |
| 17 | g.10392962T= | CA2247205064 | MYH8,MYHAS | c.5332A= (p.Thr1778=) n.76+9755T= c.5428A= (p.Thr1810=) | |
| 17 | g.10392963G>A | CA497837497 | MYH8,MYHAS | c.5331C>T (p.Asp1777=) n.76+9756G>A c.5427C>T (p.Asp1809=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.10392963G>C | CA398092517 | MYH8,MYHAS | c.5331C>G (p.Asp1777Glu) n.76+9756G>C c.5427C>G (p.Asp1809Glu) | |
| 17 | g.10392963G= | CA2247205069 | MYH8,MYHAS | c.5331C= (p.Asp1777=) n.76+9756G= c.5427C= (p.Asp1809=) | |
| 17 | g.10392963G>T | CA398092518 | MYH8,MYHAS | c.5331C>A (p.Asp1777Glu) n.76+9756G>T c.5427C>A (p.Asp1809Glu) | |
| 17 | g.10392964T>A | CA398092522 | MYH8,MYHAS | c.5330A>T (p.Asp1777Val) n.76+9757T>A c.5426A>T (p.Asp1809Val) | |
| 17 | g.10392964T>C | CA8387064 | MYH8,MYHAS | c.5330A>G (p.Asp1777Gly) n.76+9757T>C c.5426A>G (p.Asp1809Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10392964T>G | CA398092527 | MYH8,MYHAS | c.5330A>C (p.Asp1777Ala) n.76+9757T>G c.5426A>C (p.Asp1809Ala) | |
| 17 | g.10392964T= | CA2247205072 | MYH8,MYHAS | c.5330A= (p.Asp1777=) n.76+9757T= c.5426A= (p.Asp1809=) | |
| 17 | g.10392965C>A | CA398092538 | MYH8,MYHAS | c.5329G>T (p.Asp1777Tyr) n.76+9758C>A c.5425G>T (p.Asp1809Tyr) | |
| 17 | g.10392965C>G | CA398092534 | MYH8,MYHAS | c.5329G>C (p.Asp1777His) n.76+9758C>G c.5425G>C (p.Asp1809His) | |
| 17 | g.10392965C>T | CA398092532 | MYH8,MYHAS | c.5329G>A (p.Asp1777Asn) n.76+9758C>T c.5425G>A (p.Asp1809Asn) | COSMIC |
| 17 | g.10392966C>A | CA398092543 | MYH8,MYHAS | c.5328G>T (p.Gln1776His) n.76+9759C>A c.5424G>T (p.Gln1808His) | |
| 17 | g.10392966C= | CA2247205073 | MYH8,MYHAS | c.5328G= (p.Gln1776=) n.76+9759C= c.5424G= (p.Gln1808=) | |
| 17 | g.10392966C>G | CA398092549 | MYH8,MYHAS | c.5328G>C (p.Gln1776His) n.76+9759C>G c.5424G>C (p.Gln1808His) | |
| 17 | g.10392966C>T | CA8387065 | MYH8,MYHAS | c.5328G>A (p.Gln1776=) n.76+9759C>T c.5424G>A (p.Gln1808=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.10392967T>A | CA398092554 | MYH8,MYHAS | c.5327A>T (p.Gln1776Leu) n.76+9760T>A c.5423A>T (p.Gln1808Leu) | |
| 17 | g.10392967T>C | CA398092556 | MYH8,MYHAS | c.5327A>G (p.Gln1776Arg) n.76+9760T>C c.5423A>G (p.Gln1808Arg) | |
| 17 | g.10392967T>G | CA398092557 | MYH8,MYHAS | c.5327A>C (p.Gln1776Pro) n.76+9760T>G c.5423A>C (p.Gln1808Pro) | |
| 17 | g.10392968G>A | CA398092560 | MYH8,MYHAS | c.5326C>T (p.Gln1776Ter) n.76+9761G>A c.5422C>T (p.Gln1808Ter) | |
| 17 | g.10392968G>C | CA398092561 | MYH8,MYHAS | c.5326C>G (p.Gln1776Glu) n.76+9761G>C c.5422C>G (p.Gln1808Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.10392968G= | CA2247205076 | MYH8,MYHAS | c.5326C= (p.Gln1776=) n.76+9761G= c.5422C= (p.Gln1808=) | |
| 17 | g.10392968G>T | CA398092562 | MYH8,MYHAS | c.5326C>A (p.Gln1776Lys) n.76+9761G>T c.5422C>A (p.Gln1808Lys) | |
| 17 | g.10392969T>A | CA398092565 | MYH8,MYHAS | c.5325A>T (p.Glu1775Asp) n.76+9762T>A c.5421A>T (p.Glu1807Asp) | |
| 17 | g.10392969T>C | CA287717794 | MYH8,MYHAS | c.5325A>G (p.Glu1775=) n.76+9762T>C c.5421A>G (p.Glu1807=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10392969T>G | CA398092567 | MYH8,MYHAS | c.5325A>C (p.Glu1775Asp) n.76+9762T>G c.5421A>C (p.Glu1807Asp) | |
| 17 | g.10392969T= | CA2247205080 | MYH8,MYHAS | c.5325A= (p.Glu1775=) n.76+9762T= c.5421A= (p.Glu1807=) | |
| 17 | g.10392970T>A | CA398092570 | MYH8,MYHAS | c.5324A>T (p.Glu1775Val) n.76+9763T>A c.5420A>T (p.Glu1807Val) | |
| 17 | g.10392970T>C | CA398092571 | MYH8,MYHAS | c.5324A>G (p.Glu1775Gly) n.76+9763T>C c.5420A>G (p.Glu1807Gly) | |
| 17 | g.10392970T>G | CA398092573 | MYH8,MYHAS | c.5324A>C (p.Glu1775Ala) n.76+9763T>G c.5420A>C (p.Glu1807Ala) | |
| 17 | g.10392971C>A | CA398092575 | MYH8,MYHAS | c.5323G>T (p.Glu1775Ter) n.76+9764C>A c.5419G>T (p.Glu1807Ter) | |
| 17 | g.10392971C= | CA2247205084 | MYH8,MYHAS | c.5323G= (p.Glu1775=) n.76+9764C= c.5419G= (p.Glu1807=) | |
| 17 | g.10392971C>G | CA398092578 | MYH8,MYHAS | c.5323G>C (p.Glu1775Gln) n.76+9764C>G c.5419G>C (p.Glu1807Gln) | |
| 17 | g.10392971C>T | CA8387066 | MYH8,MYHAS | c.5323G>A (p.Glu1775Lys) n.76+9764C>T c.5419G>A (p.Glu1807Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10392972C>A | CA398092580 | MYH8,MYHAS | c.5322G>T (p.Lys1774Asn) n.76+9765C>A c.5418G>T (p.Lys1806Asn) | |
| 17 | g.10392972C= | CA2247205087 | MYH8,MYHAS | c.5322G= (p.Lys1774=) n.76+9765C= c.5418G= (p.Lys1806=) | |
| 17 | g.10392972C>G | CA398092582 | MYH8,MYHAS | c.5322G>C (p.Lys1774Asn) n.76+9765C>G c.5418G>C (p.Lys1806Asn) | |
| 17 | g.10392972C>T | CA497837504 | MYH8,MYHAS | c.5322G>A (p.Lys1774=) n.76+9765C>T c.5418G>A (p.Lys1806=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.10392973T>A | CA398092585 | MYH8,MYHAS | c.5321A>T (p.Lys1774Met) n.76+9766T>A c.5417A>T (p.Lys1806Met) | |
| 17 | g.10392973T>C | CA398092586 | MYH8,MYHAS | c.5321A>G (p.Lys1774Arg) n.76+9766T>C c.5417A>G (p.Lys1806Arg) | |
| 17 | g.10392973T>G | CA398092588 | MYH8,MYHAS | c.5321A>C (p.Lys1774Thr) n.76+9766T>G c.5417A>C (p.Lys1806Thr) | |
| 17 | g.10392974del | CA2808461481 | MYH8,MYHAS | c.5321del (p.Lys1774ArgfsTer12) n.76+9767del c.5417del (p.Lys1806ArgfsTer12) | |
| 17 | g.10392974T>A | CA398092590 | MYH8,MYHAS | c.5320A>T (p.Lys1774Ter) n.76+9767T>A c.5416A>T (p.Lys1806Ter) | |
| 17 | g.10392974T>C | CA398092592 | MYH8,MYHAS | c.5320A>G (p.Lys1774Glu) n.76+9767T>C c.5416A>G (p.Lys1806Glu) | |
| 17 | g.10392974T>G | CA398092593 | MYH8,MYHAS | c.5320A>C (p.Lys1774Gln) n.76+9767T>G c.5416A>C (p.Lys1806Gln) | |
| 17 | g.10392975C>A | CA398092595 | MYH8,MYHAS | c.5319G>T (p.Lys1773Asn) n.76+9768C>A c.5415G>T (p.Lys1805Asn) | |
| 17 | g.10392975C= | CA2247205091 | MYH8,MYHAS | c.5319G= (p.Lys1773=) n.76+9768C= c.5415G= (p.Lys1805=) | |
| 17 | g.10392975C>G | CA398092597 | MYH8,MYHAS | c.5319G>C (p.Lys1773Asn) n.76+9768C>G c.5415G>C (p.Lys1805Asn) | |
| 17 | g.10392975C>T | CA497837505 | MYH8,MYHAS | c.5319G>A (p.Lys1773=) n.76+9768C>T c.5415G>A (p.Lys1805=) | dbSNP |
| 17 | g.10392976T>A | CA398092601 | MYH8,MYHAS | c.5318A>T (p.Lys1773Met) n.76+9769T>A c.5414A>T (p.Lys1805Met) | |
| 17 | g.10392976T>C | CA8387067 | MYH8,MYHAS | c.5318A>G (p.Lys1773Arg) n.76+9769T>C c.5414A>G (p.Lys1805Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10392976T>G | CA398092599 | MYH8,MYHAS | c.5318A>C (p.Lys1773Thr) n.76+9769T>G c.5414A>C (p.Lys1805Thr) | |
| 17 | g.10392976T= | CA2247205095 | MYH8,MYHAS | c.5318A= (p.Lys1773=) n.76+9769T= c.5414A= (p.Lys1805=) | |
| 17 | g.10392977T>A | CA398092605 | MYH8,MYHAS | c.5317A>T (p.Lys1773Ter) n.76+9770T>A c.5413A>T (p.Lys1805Ter) | |
| 17 | g.10392977T>C | CA398092607 | MYH8,MYHAS | c.5317A>G (p.Lys1773Glu) n.76+9770T>C c.5413A>G (p.Lys1805Glu) | |
| 17 | g.10392977T>G | CA398092609 | MYH8,MYHAS | c.5317A>C (p.Lys1773Gln) n.76+9770T>G c.5413A>C (p.Lys1805Gln) | |
| 17 | g.10392978C>A | CA497837509 | MYH8,MYHAS | c.5316G>T (p.Leu1772=) n.76+9771C>A c.5412G>T (p.Leu1804=) | |
| 17 | g.10392978C>G | CA497837510 | MYH8,MYHAS | c.5316G>C (p.Leu1772=) n.76+9771C>G c.5412G>C (p.Leu1804=) | |
| 17 | g.10392978C>T | CA497837511 | MYH8,MYHAS | c.5316G>A (p.Leu1772=) n.76+9771C>T c.5412G>A (p.Leu1804=) | gnomAD v4 COSMIC |
| 17 | g.10392979A>C | CA398092610 | MYH8,MYHAS | c.5315T>G (p.Leu1772Arg) n.76+9772A>C c.5411T>G (p.Leu1804Arg) | |
| 17 | g.10392979A>G | CA398092612 | MYH8,MYHAS | c.5315T>C (p.Leu1772Pro) n.76+9772A>G c.5411T>C (p.Leu1804Pro) | |
| 17 | g.10392979A>T | CA398092614 | MYH8,MYHAS | c.5315T>A (p.Leu1772Gln) n.76+9772A>T c.5411T>A (p.Leu1804Gln) | |
| 17 | g.10392980G>A | CA497837512 | MYH8,MYHAS | c.5314C>T (p.Leu1772=) n.76+9773G>A c.5410C>T (p.Leu1804=) | |
| 17 | g.10392980G>C | CA398092616 | MYH8,MYHAS | c.5314C>G (p.Leu1772Val) n.76+9773G>C c.5410C>G (p.Leu1804Val) | |
| 17 | g.10392980G>T | CA398092618 | MYH8,MYHAS | c.5314C>A (p.Leu1772Met) n.76+9773G>T c.5410C>A (p.Leu1804Met) | |
| 17 | g.10392981C>A | CA398092620 | MYH8,MYHAS | c.5313G>T (p.Glu1771Asp) n.76+9774C>A c.5409G>T (p.Glu1803Asp) | |
| 17 | g.10392981C>G | CA398092621 | MYH8,MYHAS | c.5313G>C (p.Glu1771Asp) n.76+9774C>G c.5409G>C (p.Glu1803Asp) | |
| 17 | g.10392981C>T | CA497837513 | MYH8,MYHAS | c.5313G>A (p.Glu1771=) n.76+9774C>T c.5409G>A (p.Glu1803=) | |
| 17 | g.10392982T>A | CA398092624 | MYH8,MYHAS | c.5312A>T (p.Glu1771Val) n.76+9775T>A c.5408A>T (p.Glu1803Val) | |
| 17 | g.10392982T>C | CA398092626 | MYH8,MYHAS | c.5312A>G (p.Glu1771Gly) n.76+9775T>C c.5408A>G (p.Glu1803Gly) | |
| 17 | g.10392982T>G | CA398092628 | MYH8,MYHAS | c.5312A>C (p.Glu1771Ala) n.76+9775T>G c.5408A>C (p.Glu1803Ala) | |
| 17 | g.10392983C>A | CA398092633 | MYH8,MYHAS | c.5311G>T (p.Glu1771Ter) n.76+9776C>A c.5407G>T (p.Glu1803Ter) | |
| 17 | g.10392983C= | CA2247205098 | MYH8,MYHAS | c.5311G= (p.Glu1771=) n.76+9776C= c.5407G= (p.Glu1803=) | |
| 17 | g.10392983C>G | CA287717801 | MYH8,MYHAS | c.5311G>C (p.Glu1771Gln) n.76+9776C>G c.5407G>C (p.Glu1803Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10392983C>T | CA398092631 | MYH8,MYHAS | c.5311G>A (p.Glu1771Lys) n.76+9776C>T c.5407G>A (p.Glu1803Lys) | COSMIC |
| 17 | g.10392984C>A | CA398092636 | MYH8,MYHAS | c.5310G>T (p.Glu1770Asp) n.76+9777C>A c.5406G>T (p.Glu1802Asp) | COSMIC |
| 17 | g.10392984C>G | CA398092637 | MYH8,MYHAS | c.5310G>C (p.Glu1770Asp) n.76+9777C>G c.5406G>C (p.Glu1802Asp) | |
| 17 | g.10392984C>T | CA497837518 | MYH8,MYHAS | c.5310G>A (p.Glu1770=) n.76+9777C>T c.5406G>A (p.Glu1802=) | |
| 17 | g.10392985T>A | CA398092640 | MYH8,MYHAS | c.5309A>T (p.Glu1770Val) n.76+9778T>A c.5405A>T (p.Glu1802Val) | |
| 17 | g.10392985T>C | CA398092642 | MYH8,MYHAS | c.5309A>G (p.Glu1770Gly) n.76+9778T>C c.5405A>G (p.Glu1802Gly) | |
| 17 | g.10392985T>G | CA398092643 | MYH8,MYHAS | c.5309A>C (p.Glu1770Ala) n.76+9778T>G c.5405A>C (p.Glu1802Ala) | |
| 17 | g.10392986C>A | CA398092644 | MYH8,MYHAS | c.5308G>T (p.Glu1770Ter) n.76+9779C>A c.5404G>T (p.Glu1802Ter) | |
| 17 | g.10392986C>G | CA398092645 | MYH8,MYHAS | c.5308G>C (p.Glu1770Gln) n.76+9779C>G c.5404G>C (p.Glu1802Gln) | |
| 17 | g.10392986C>T | CA398092646 | MYH8,MYHAS | c.5308G>A (p.Glu1770Lys) n.76+9779C>T c.5404G>A (p.Glu1802Lys) | |
| 17 | g.10392987A>C | CA497837524 | MYH8,MYHAS | c.5307T>G (p.Ala1769=) n.76+9780A>C c.5403T>G (p.Ala1801=) | gnomAD v4 |
| 17 | g.10392987A>G | CA497837523 | MYH8,MYHAS | c.5307T>C (p.Ala1769=) n.76+9780A>G c.5403T>C (p.Ala1801=) | |
| 17 | g.10392987A>T | CA497837522 | MYH8,MYHAS | c.5307T>A (p.Ala1769=) n.76+9780A>T c.5403T>A (p.Ala1801=) | |
| 17 | g.10392988G>A | CA398092648 | MYH8,MYHAS | c.5306C>T (p.Ala1769Val) n.76+9781G>A c.5402C>T (p.Ala1801Val) | gnomAD v4 |
| 17 | g.10392988G>C | CA398092650 | MYH8,MYHAS | c.5306C>G (p.Ala1769Gly) n.76+9781G>C c.5402C>G (p.Ala1801Gly) | |
| 17 | g.10392988G>T | CA398092651 | MYH8,MYHAS | c.5306C>A (p.Ala1769Asp) n.76+9781G>T c.5402C>A (p.Ala1801Asp) | |
| 17 | g.10392989C>A | CA398092652 | MYH8,MYHAS | c.5305G>T (p.Ala1769Ser) n.76+9782C>A c.5401G>T (p.Ala1801Ser) | |
| 17 | g.10392989C>G | CA398092653 | MYH8,MYHAS | c.5305G>C (p.Ala1769Pro) n.76+9782C>G c.5401G>C (p.Ala1801Pro) | |
| 17 | g.10392989C>T | CA398092655 | MYH8,MYHAS | c.5305G>A (p.Ala1769Thr) n.76+9782C>T c.5401G>A (p.Ala1801Thr) | gnomAD v4 |
| 17 | g.10392990C>A | CA398092660 | MYH8,MYHAS | c.5304G>T (p.Met1768Ile) n.76+9783C>A c.5400G>T (p.Met1800Ile) | |
| 17 | g.10392990C= | CA2247205101 | MYH8,MYHAS | c.5304G= (p.Met1768=) n.76+9783C= c.5400G= (p.Met1800=) | |
| 17 | g.10392990C>G | CA398092659 | MYH8,MYHAS | c.5304G>C (p.Met1768Ile) n.76+9783C>G c.5400G>C (p.Met1800Ile) | |
| 17 | g.10392990C>T | CA287717803 | MYH8,MYHAS | c.5304G>A (p.Met1768Ile) n.76+9783C>T c.5400G>A (p.Met1800Ile) | dbSNP |
| 17 | g.10392991A= | CA2247205103 | MYH8,MYHAS | c.5303T= (p.Met1768=) n.76+9784A= c.5399T= (p.Met1800=) | |
| 17 | g.10392991A>C | CA398092665 | MYH8,MYHAS | c.5303T>G (p.Met1768Arg) n.76+9784A>C c.5399T>G (p.Met1800Arg) | |
| 17 | g.10392991A>G | CA398092663 | MYH8,MYHAS | c.5303T>C (p.Met1768Thr) n.76+9784A>G c.5399T>C (p.Met1800Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.10392991A>T | CA398092666 | MYH8,MYHAS | c.5303T>A (p.Met1768Lys) n.76+9784A>T c.5399T>A (p.Met1800Lys) | |
| 17 | g.10392992T>A | CA398092669 | MYH8,MYHAS | c.5302A>T (p.Met1768Leu) n.76+9785T>A c.5398A>T (p.Met1800Leu) | |
| 17 | g.10392992T>C | CA398092672 | MYH8,MYHAS | c.5302A>G (p.Met1768Val) n.76+9785T>C c.5398A>G (p.Met1800Val) | |
| 17 | g.10392992T>G | CA398092670 | MYH8,MYHAS | c.5302A>C (p.Met1768Leu) n.76+9785T>G c.5398A>C (p.Met1800Leu) | |
| 17 | g.10392993C>A | CA398092674 | MYH8,MYHAS | c.5301G>T (p.Met1767Ile) n.76+9786C>A c.5397G>T (p.Met1799Ile) | |
| 17 | g.10392993C= | CA2247205109 | MYH8,MYHAS | c.5301G= (p.Met1767=) n.76+9786C= c.5397G= (p.Met1799=) | |
| 17 | g.10392993C>G | CA398092679 | MYH8,MYHAS | c.5301G>C (p.Met1767Ile) n.76+9786C>G c.5397G>C (p.Met1799Ile) | |
| 17 | g.10392993C>T | CA398092677 | MYH8,MYHAS | c.5301G>A (p.Met1767Ile) n.76+9786C>T c.5397G>A (p.Met1799Ile) | |
| 17 | g.10392994A= | CA2247205120 | MYH8,MYHAS | c.5300T= (p.Met1767=) n.76+9787A= c.5396T= (p.Met1799=) | |
| 17 | g.10392994A>C | CA398092680 | MYH8,MYHAS | c.5300T>G (p.Met1767Arg) n.76+9787A>C c.5396T>G (p.Met1799Arg) | |
| 17 | g.10392994A>G | CA398092682 | MYH8,MYHAS | c.5300T>C (p.Met1767Thr) n.76+9787A>G c.5396T>C (p.Met1799Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.10392994A>T | CA398092684 | MYH8,MYHAS | c.5300T>A (p.Met1767Lys) n.76+9787A>T c.5396T>A (p.Met1799Lys) | |
| 17 | g.10392994dup | CA725956910 | MYH8,MYHAS | c.5300dup (p.Met1767IlefsTer4) n.76+9787dup c.5396dup (p.Met1799IlefsTer4) | dbSNP gnomAD v4 |
| 17 | g.10392995T>A | CA398092687 | MYH8,MYHAS | c.5299A>T (p.Met1767Leu) n.76+9788T>A c.5395A>T (p.Met1799Leu) | |
| 17 | g.10392995T>C | CA398092688 | MYH8,MYHAS | c.5299A>G (p.Met1767Val) n.76+9788T>C c.5395A>G (p.Met1799Val) | dbSNP |
| 17 | g.10392995T>G | CA398092691 | MYH8,MYHAS | c.5299A>C (p.Met1767Leu) n.76+9788T>G c.5395A>C (p.Met1799Leu) | |
| 17 | g.10392995T= | CA2247205129 | MYH8,MYHAS | c.5299A= (p.Met1767=) n.76+9788T= c.5395A= (p.Met1799=) | |
| 17 | g.10392996G>A | CA497837529 | MYH8,MYHAS | c.5298C>T (p.Ala1766=) n.76+9789G>A c.5394C>T (p.Ala1798=) | dbSNP |
| 17 | g.10392996G>C | CA497837530 | MYH8,MYHAS | c.5298C>G (p.Ala1766=) n.76+9789G>C c.5394C>G (p.Ala1798=) | |
| 17 | g.10392996G= | CA2247205141 | MYH8,MYHAS | c.5298C= (p.Ala1766=) n.76+9789G= c.5394C= (p.Ala1798=) | |
| 17 | g.10392996G>T | CA497837531 | MYH8,MYHAS | c.5298C>A (p.Ala1766=) n.76+9789G>T c.5394C>A (p.Ala1798=) | |
| 17 | g.10392997G>A | CA398092693 | MYH8,MYHAS | c.5297C>T (p.Ala1766Val) n.76+9790G>A c.5393C>T (p.Ala1798Val) | dbSNP gnomAD v4 |
| 17 | g.10392997G>C | CA398092695 | MYH8,MYHAS | c.5297C>G (p.Ala1766Gly) n.76+9790G>C c.5393C>G (p.Ala1798Gly) | |
| 17 | g.10392997G= | CA2247205142 | MYH8,MYHAS | c.5297C= (p.Ala1766=) n.76+9790G= c.5393C= (p.Ala1798=) | |
| 17 | g.10392997G>T | CA398092698 | MYH8,MYHAS | c.5297C>A (p.Ala1766Asp) n.76+9790G>T c.5393C>A (p.Ala1798Asp) | |
| 17 | g.10392998C>A | CA8387068 | MYH8,MYHAS | c.5296G>T (p.Ala1766Ser) n.76+9791C>A c.5392G>T (p.Ala1798Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10392998C= | CA2247205145 | MYH8,MYHAS | c.5296G= (p.Ala1766=) n.76+9791C= c.5392G= (p.Ala1798=) | |
| 17 | g.10392998C>G | CA398092701 | MYH8,MYHAS | c.5296G>C (p.Ala1766Pro) n.76+9791C>G c.5392G>C (p.Ala1798Pro) | |
| 17 | g.10392998C>T | CA398092702 | MYH8,MYHAS | c.5296G>A (p.Ala1766Thr) n.76+9791C>T c.5392G>A (p.Ala1798Thr) | |
| 17 | g.10392999A>C | CA497837535 | MYH8,MYHAS | c.5295T>G (p.Ala1765=) n.76+9792A>C c.5391T>G (p.Ala1797=) | |
| 17 | g.10392999A>G | CA497837536 | MYH8,MYHAS | c.5295T>C (p.Ala1765=) n.76+9792A>G c.5391T>C (p.Ala1797=) | |
| 17 | g.10392999A>T | CA497837537 | MYH8,MYHAS | c.5295T>A (p.Ala1765=) n.76+9792A>T c.5391T>A (p.Ala1797=) | |
| 17 | g.10393000G>A | CA398092705 | MYH8,MYHAS | c.5294C>T (p.Ala1765Val) n.76+9793G>A c.5390C>T (p.Ala1797Val) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.10393000G>C | CA398092708 | MYH8,MYHAS | c.5294C>G (p.Ala1765Gly) n.76+9793G>C c.5390C>G (p.Ala1797Gly) | |
| 17 | g.10393000G= | CA2247205150 | MYH8,MYHAS | c.5294C= (p.Ala1765=) n.76+9793G= c.5390C= (p.Ala1797=) | |
| 17 | g.10393000G>T | CA398092707 | MYH8,MYHAS | c.5294C>A (p.Ala1765Asp) n.76+9793G>T c.5390C>A (p.Ala1797Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.10393001C>A | CA398092711 | MYH8,MYHAS | c.5293G>T (p.Ala1765Ser) n.76+9794C>A c.5389G>T (p.Ala1797Ser) | |
| 17 | g.10393001C= | CA2247205155 | MYH8,MYHAS | c.5293G= (p.Ala1765=) n.76+9794C= c.5389G= (p.Ala1797=) | |
| 17 | g.10393001C>G | CA398092713 | MYH8,MYHAS | c.5293G>C (p.Ala1765Pro) n.76+9794C>G c.5389G>C (p.Ala1797Pro) | |
| 17 | g.10393001C>T | CA8387069 | MYH8,MYHAS | c.5293G>A (p.Ala1765Thr) n.76+9794C>T c.5389G>A (p.Ala1797Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10393002C>A | CA398092716 | MYH8,MYHAS | c.5293-1G>T (n.5293-1G>T) n.76+9795C>A c.5389-1G>T (n.5389-1G>T) | |
| 17 | g.10393002C= | CA2247205161 | MYH8,MYHAS | c.5293-1G= (n.5293-1G=) n.76+9795C= c.5389-1G= (n.5389-1G=) | |
| 17 | g.10393002C>G | CA398092717 | MYH8,MYHAS | c.5293-1G>C (n.5293-1G>C) n.76+9795C>G c.5389-1G>C (n.5389-1G>C) | |
| 17 | g.10393002C>T | CA8387070 | MYH8,MYHAS | c.5293-1G>A (n.5293-1G>A) n.76+9795C>T c.5389-1G>A (n.5389-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10393003T>A | CA398092721 | MYH8,MYHAS | c.5293-2A>T (n.5293-2A>T) n.76+9796T>A c.5389-2A>T (n.5389-2A>T) | |
| 17 | g.10393003T>C | CA398092722 | MYH8,MYHAS | c.5293-2A>G (n.5293-2A>G) n.76+9796T>C c.5389-2A>G (n.5389-2A>G) | gnomAD v4 |
| 17 | g.10393003T>G | CA398092724 | MYH8,MYHAS | c.5293-2A>C (n.5293-2A>C) n.76+9796T>G c.5389-2A>C (n.5389-2A>C) | |
| 17 | g.10393004A= | CA2247205163 | MYH8,MYHAS | c.5293-3T= (n.5293-3T=) n.76+9797A= c.5389-3T= (n.5389-3T=) | |
| 17 | g.10393004A>G | CA8387071 | MYH8,MYHAS | c.5293-3T>C (n.5293-3T>C) n.76+9797A>G c.5389-3T>C (n.5389-3T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.10393005T>C | CA2636104663 | MYH8,MYHAS | c.5293-4A>G (n.5293-4A>G) n.76+9798T>C c.5389-4A>G (n.5389-4A>G) | gnomAD v4 |
| 17 | g.10393010_10393011delinsGA | CA2247205169 | MYH8,MYHAS | c.5293-10_5293-9delinsTC (n.5293-10_5293-9delinsTC) n.76+9803_76+9804delinsGA c.5389-10_5389-9delinsTC (n.5389-10_5389-9delinsTC) | |
| 17 | g.10393013del | CA2247205173 | MYH8,MYHAS | c.5293-10del (n.5293-10del) n.76+9806del c.5389-10del (n.5389-10del) | dbSNP |
| 17 | g.10393012A= | CA2247205180 | MYH8,MYHAS | c.5293-11T= (n.5293-11T=) n.76+9805A= c.5389-11T= (n.5389-11T=) | |
| 17 | g.10393012A>C | CA624888822 | MYH8,MYHAS | c.5293-11T>G (n.5293-11T>G) n.76+9805A>C c.5389-11T>G (n.5389-11T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.10393013A>G | CA2732994196 | MYH8,MYHAS | c.5293-12T>C (n.5293-12T>C) n.76+9806A>G c.5389-12T>C (n.5389-12T>C) | dbSNP |
| 17 | g.10393014T>A | CA2636104664 | MYH8,MYHAS | c.5293-13A>T (n.5293-13A>T) n.76+9807T>A c.5389-13A>T (n.5389-13A>T) | gnomAD v4 |
| 17 | g.10393015A= | CA2247205189 | MYH8,MYHAS | c.5293-14T= (n.5293-14T=) n.76+9808A= c.5389-14T= (n.5389-14T=) | |
| 17 | g.10393015A>T | CA2247205193 | MYH8,MYHAS | c.5293-14T>A (n.5293-14T>A) n.76+9808A>T c.5389-14T>A (n.5389-14T>A) | dbSNP |
| 17 | g.10393016A>C | CA2636104665 | MYH8,MYHAS | c.5293-15T>G (n.5293-15T>G) n.76+9809A>C c.5389-15T>G (n.5389-15T>G) | gnomAD v4 |
| 17 | g.10393017A= | CA2247205194 | MYH8,MYHAS | c.5293-16T= (n.5293-16T=) n.76+9810A= c.5389-16T= (n.5389-16T=) | |
| 17 | g.10393017A>G | CA287717827 | MYH8,MYHAS | c.5293-16T>C (n.5293-16T>C) n.76+9810A>G c.5389-16T>C (n.5389-16T>C) | dbSNP |
| 17 | g.10393018T>C | CA8387072 | MYH8,MYHAS | c.5293-17A>G (n.5293-17A>G) n.76+9811T>C c.5389-17A>G (n.5389-17A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.10393018T= | CA2247205197 | MYH8,MYHAS | c.5293-17A= (n.5293-17A=) n.76+9811T= c.5389-17A= (n.5389-17A=) | |
| 17 | g.10393019T>G | CA2636104666 | MYH8,MYHAS | c.5293-18A>C (n.5293-18A>C) n.76+9812T>G c.5389-18A>C (n.5389-18A>C) | gnomAD v4 |
| 17 | g.10393020A= | CA2247205200 | MYH8,MYHAS | c.5293-19T= (n.5293-19T=) n.76+9813A= c.5389-19T= (n.5389-19T=) | |
| 17 | g.10393020A>G | CA981410913 | MYH8,MYHAS | c.5293-19T>C (n.5293-19T>C) n.76+9813A>G c.5389-19T>C (n.5389-19T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.10393023_10393026del | CA2576170805 | MYH8,MYHAS | c.5293-22_5293-19del (n.5293-22_5293-19del) n.76+9816_76+9819del c.5389-22_5389-19del (n.5389-22_5389-19del) | |
| 17 | g.10393021A>G | CA2636104667 | MYH8,MYHAS | c.5293-20T>C (n.5293-20T>C) n.76+9814A>G c.5389-20T>C (n.5389-20T>C) | gnomAD v4 |
| 17 | g.10393022G>C | CA2636104668 | MYH8,MYHAS | c.5293-21C>G (n.5293-21C>G) n.76+9815G>C c.5389-21C>G (n.5389-21C>G) | gnomAD v4 |
| 17 | g.10393023A= | CA2247205203 | MYH8,MYHAS | c.5293-22T= (n.5293-22T=) n.76+9816A= c.5389-22T= (n.5389-22T=) | |
| 17 | g.10393023A>G | CA725956932 | MYH8,MYHAS | c.5293-22T>C (n.5293-22T>C) n.76+9816A>G c.5389-22T>C (n.5389-22T>C) | dbSNP |
| 17 | g.10393024A>C | CA2576170806 | MYH8,MYHAS | c.5293-23T>G (n.5293-23T>G) n.76+9817A>C c.5389-23T>G (n.5389-23T>G) | |
| 17 | g.10393025A= | CA2247205208 | MYH8,MYHAS | c.5293-24T= (n.5293-24T=) n.76+9818A= c.5389-24T= (n.5389-24T=) | |
| 17 | g.10393025A>C | CA624888823 | MYH8,MYHAS | c.5293-24T>G (n.5293-24T>G) n.76+9818A>C c.5389-24T>G (n.5389-24T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.10393025A>G | CA624888824 | MYH8,MYHAS | c.5293-24T>C (n.5293-24T>C) n.76+9818A>G c.5389-24T>C (n.5389-24T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.10393026G>A | CA2636104669 | MYH8,MYHAS | c.5293-25C>T (n.5293-25C>T) n.76+9819G>A c.5389-25C>T (n.5389-25C>T) | gnomAD v4 |
| 17 | g.10393027T>C | CA8387073 | MYH8,MYHAS | c.5293-26A>G (n.5293-26A>G) n.76+9820T>C c.5389-26A>G (n.5389-26A>G) | dbSNP ExAC gnomAD v2 |
| 17 | g.10393027T= | CA2247205209 | MYH8,MYHAS | c.5293-26A= (n.5293-26A=) n.76+9820T= c.5389-26A= (n.5389-26A=) | |
| 17 | g.10393028A= | CA2247205213 | MYH8,MYHAS | c.5293-27T= (n.5293-27T=) n.76+9821A= c.5389-27T= (n.5389-27T=) | |
| 17 | g.10393028A>G | CA2247205214 | MYH8,MYHAS | c.5293-27T>C (n.5293-27T>C) n.76+9821A>G c.5389-27T>C (n.5389-27T>C) | dbSNP |
| 17 | g.10393031G= | CA2247205215 | MYH8,MYHAS | c.5293-30C= (n.5293-30C=) n.76+9824G= c.5389-30C= (n.5389-30C=) | |
| 17 | g.10393031G>T | CA725956939 | MYH8,MYHAS | c.5293-30C>A (n.5293-30C>A) n.76+9824G>T c.5389-30C>A (n.5389-30C>A) | dbSNP gnomAD v4 |
| 17 | g.10393035C= | CA2247205218 | MYH8,MYHAS | c.5293-34G= (n.5293-34G=) n.76+9828C= c.5389-34G= (n.5389-34G=) | |
| 17 | g.10393035C>T | CA2247205220 | MYH8,MYHAS | c.5293-34G>A (n.5293-34G>A) n.76+9828C>T c.5389-34G>A (n.5389-34G>A) | dbSNP gnomAD v4 |
| 17 | g.10393037T>C | CA287717836 | MYH8,MYHAS | c.5293-36A>G (n.5293-36A>G) n.76+9830T>C c.5389-36A>G (n.5389-36A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.10393037T= | CA2247205223 | MYH8,MYHAS | c.5293-36A= (n.5293-36A=) n.76+9830T= c.5389-36A= (n.5389-36A=) | |
| 17 | g.10393041_10393043del | CA2636104670 | MYH8,MYHAS | c.5293-38_5293-36del (n.5293-38_5293-36del) n.76+9834_76+9836del c.5389-38_5389-36del (n.5389-38_5389-36del) | gnomAD v4 |
| 17 | g.10393038G>C | CA8387074 | MYH8,MYHAS | c.5293-37C>G (n.5293-37C>G) n.76+9831G>C c.5389-37C>G (n.5389-37C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.10393038G= | CA2247205228 | MYH8,MYHAS | c.5293-37C= (n.5293-37C=) n.76+9831G= c.5389-37C= (n.5389-37C=) | |
| 17 | g.10393039A>C | CA2636104671 | MYH8,MYHAS | c.5293-38T>G (n.5293-38T>G) n.76+9832A>C c.5389-38T>G (n.5389-38T>G) | gnomAD v4 |
| 17 | g.10393040T>C | CA287717840 | MYH8,MYHAS | c.5293-39A>G (n.5293-39A>G) n.76+9833T>C c.5389-39A>G (n.5389-39A>G) | dbSNP |
| 17 | g.10393040T= | CA2247205230 | MYH8,MYHAS | c.5293-39A= (n.5293-39A=) n.76+9833T= c.5389-39A= (n.5389-39A=) | |
| 17 | g.10393041G>A | CA2513075674 | MYH8,MYHAS | c.5293-40C>T (n.5293-40C>T) n.76+9834G>A c.5389-40C>T (n.5389-40C>T) | |
| 17 | g.10393043T>A | CA2808461482 | MYH8,MYHAS | c.5293-42A>T (n.5293-42A>T) n.76+9836T>A c.5389-42A>T (n.5389-42A>T) | |
| 17 | g.10393043T>C | CA8387075 | MYH8,MYHAS | c.5293-42A>G (n.5293-42A>G) n.76+9836T>C c.5389-42A>G (n.5389-42A>G) | dbSNP ExAC gnomAD v2 |
| 17 | g.10393043T= | CA2247205233 | MYH8,MYHAS | c.5293-42A= (n.5293-42A=) n.76+9836T= c.5389-42A= (n.5389-42A=) | |
| 17 | g.10393043_10393050dup | CA2636104672 | MYH8,MYHAS | c.5292+35_5293-42dup (n.5292+35_5293-42dup) n.76+9836_76+9843dup c.5388+35_5389-42dup (n.5388+35_5389-42dup) | gnomAD v4 |
| 17 | g.10393046_10393048del | CA2636104673 | MYH8,MYHAS | c.5292+39_5292+41del (n.5292+39_5292+41del) n.76+9839_76+9841del c.5388+39_5388+41del (n.5388+39_5388+41del) | gnomAD v4 |