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.23415168G>A | CA046625 | MYH7 | c.5386C>T (p.Arg1796Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415168G>C | CA389035659 | MYH7 | c.5386C>G (p.Arg1796Gly) | |
| 14 | g.23415168G= | CA2123462296 | MYH7 | c.5386C= (p.Arg1796=) | |
| 14 | g.23415168G>T | CA485766230 | MYH7 | c.5386C>A (p.Arg1796=) | |
| 14 | g.23415169G>A | CA485766232 | MYH7 | c.5385C>T (p.His1795=) | |
| 14 | g.23415169G>C | CA389035661 | MYH7 | c.5385C>G (p.His1795Gln) | gnomAD v4 |
| 14 | g.23415169G>T | CA389035663 | MYH7 | c.5385C>A (p.His1795Gln) | |
| 14 | g.23415170T>A | CA389035665 | MYH7 | c.5384A>T (p.His1795Leu) | |
| 14 | g.23415170T>C | CA389035667 | MYH7 | c.5384A>G (p.His1795Arg) | gnomAD v4 |
| 14 | g.23415170T>G | CA389035669 | MYH7 | c.5384A>C (p.His1795Pro) | |
| 14 | g.23415171G>A | CA389035671 | MYH7 | c.5383C>T (p.His1795Tyr) | |
| 14 | g.23415171G>C | CA389035673 | MYH7 | c.5383C>G (p.His1795Asp) | |
| 14 | g.23415171G>T | CA389035675 | MYH7 | c.5383C>A (p.His1795Asn) | |
| 14 | g.23415172C>A | CA389035677 | MYH7 | c.5382G>T (p.Gln1794His) | |
| 14 | g.23415172C= | CA2123462300 | MYH7 | c.5382G= (p.Gln1794=) | |
| 14 | g.23415172C>G | CA389035678 | MYH7 | c.5382G>C (p.Gln1794His) | |
| 14 | g.23415172C>T | CA485766237 | MYH7 | c.5382G>A (p.Gln1794=) | dbSNP gnomAD v2 |
| 14 | g.23415173T>A | CA389035681 | MYH7 | c.5381A>T (p.Gln1794Leu) | |
| 14 | g.23415173T>C | CA389035683 | MYH7 | c.5381A>G (p.Gln1794Arg) | |
| 14 | g.23415173T>G | CA389035685 | MYH7 | c.5381A>C (p.Gln1794Pro) | |
| 14 | g.23415173_23415176delinsTGCA | CA2123462303 | MYH7 | c.5378_5381delinsTGCA (p.Leu1793=) | |
| 14 | g.23415174G>A | CA389035688 | MYH7 | c.5380C>T (p.Gln1794Ter) | |
| 14 | g.23415174G>C | CA016040 | MYH7 | c.5380C>G (p.Gln1794Glu) | ClinVar dbSNP |
| 14 | g.23415174G= | CA2123462313 | MYH7 | c.5380C= (p.Gln1794=) | |
| 14 | g.23415174G>T | CA016031 | MYH7 | c.5380C>A (p.Gln1794Lys) | ClinVar dbSNP |
| 14 | g.23415175_23415177del | CA016017 | MYH7 | c.5378_5380del (p.Leu1793del) | ClinVar dbSNP |
| 14 | g.23415175C>A | CA485766238 | MYH7 | c.5379G>T (p.Leu1793=) | |
| 14 | g.23415175C>G | CA485766241 | MYH7 | c.5379G>C (p.Leu1793=) | |
| 14 | g.23415175C>T | CA485766243 | MYH7 | c.5379G>A (p.Leu1793=) | |
| 14 | g.23415176A= | CA2123462328 | MYH7 | c.5378T= (p.Leu1793=) | |
| 14 | g.23415176A>C | CA389035689 | MYH7 | c.5378T>G (p.Leu1793Arg) | |
| 14 | g.23415176A>G | CA016023 | MYH7 | c.5378T>C (p.Leu1793Pro) | ClinVar dbSNP |
| 14 | g.23415176A>T | CA389035690 | MYH7 | c.5378T>A (p.Leu1793Gln) | |
| 14 | g.23415177G>A | CA485766245 | MYH7 | c.5377C>T (p.Leu1793=) | |
| 14 | g.23415177G>C | CA389035691 | MYH7 | c.5377C>G (p.Leu1793Val) | |
| 14 | g.23415177G>T | CA389035692 | MYH7 | c.5377C>A (p.Leu1793Met) | |
| 14 | g.23415178G>A | CA485766246 | MYH7 | c.5376C>T (p.Asp1792=) | |
| 14 | g.23415178G>C | CA389035693 | MYH7 | c.5376C>G (p.Asp1792Glu) | |
| 14 | g.23415178G>T | CA389035694 | MYH7 | c.5376C>A (p.Asp1792Glu) | |
| 14 | g.23415179T>A | CA389035695 | MYH7 | c.5375A>T (p.Asp1792Val) | |
| 14 | g.23415179T>C | CA389035696 | MYH7 | c.5375A>G (p.Asp1792Gly) | |
| 14 | g.23415179T>G | CA389035697 | MYH7 | c.5375A>C (p.Asp1792Ala) | dbSNP |
| 14 | g.23415179T= | CA2123462343 | MYH7 | c.5375A= (p.Asp1792=) | |
| 14 | g.23415180C>A | CA389035698 | MYH7 | c.5374G>T (p.Asp1792Tyr) | |
| 14 | g.23415180C= | CA2123462348 | MYH7 | c.5374G= (p.Asp1792=) | |
| 14 | g.23415180C>G | CA389035699 | MYH7 | c.5374G>C (p.Asp1792His) | gnomAD v4 |
| 14 | g.23415180C>T | CA046609 | MYH7 | c.5374G>A (p.Asp1792Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415181C>A | CA389035700 | MYH7 | c.5373G>T (p.Lys1791Asn) | |
| 14 | g.23415181C>G | CA389035701 | MYH7 | c.5373G>C (p.Lys1791Asn) | |
| 14 | g.23415181C>T | CA485766250 | MYH7 | c.5373G>A (p.Lys1791=) | |
| 14 | g.23415182T>A | CA389035702 | MYH7 | c.5372A>T (p.Lys1791Met) | |
| 14 | g.23415182T>C | CA389035703 | MYH7 | c.5372A>G (p.Lys1791Arg) | |
| 14 | g.23415182T>G | CA389035704 | MYH7 | c.5372A>C (p.Lys1791Thr) | |
| 14 | g.23415183T>A | CA389035705 | MYH7 | c.5371A>T (p.Lys1791Ter) | |
| 14 | g.23415183T>C | CA389035706 | MYH7 | c.5371A>G (p.Lys1791Glu) | |
| 14 | g.23415183T>G | CA389035707 | MYH7 | c.5371A>C (p.Lys1791Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23415183T= | CA2123462355 | MYH7 | c.5371A= (p.Lys1791=) | |
| 14 | g.23415184A= | CA2123462360 | MYH7 | c.5370T= (p.Ile1790=) | |
| 14 | g.23415184A>C | CA389035708 | MYH7 | c.5370T>G (p.Ile1790Met) | |
| 14 | g.23415184A>G | CA485766254 | MYH7 | c.5370T>C (p.Ile1790=) | dbSNP gnomAD v4 |
| 14 | g.23415184A>T | CA485766255 | MYH7 | c.5370T>A (p.Ile1790=) | |
| 14 | g.23415185A= | CA2123462363 | MYH7 | c.5369T= (p.Ile1790=) | |
| 14 | g.23415185A>C | CA389035709 | MYH7 | c.5369T>G (p.Ile1790Ser) | |
| 14 | g.23415185A>G | CA046595 | MYH7 | c.5369T>C (p.Ile1790Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415185A>T | CA389035710 | MYH7 | c.5369T>A (p.Ile1790Asn) | |
| 14 | g.23415186T>A | CA389035711 | MYH7 | c.5368A>T (p.Ile1790Phe) | |
| 14 | g.23415186T>C | CA389035712 | MYH7 | c.5368A>G (p.Ile1790Val) | ClinVar dbSNP |
| 14 | g.23415186T>G | CA389035713 | MYH7 | c.5368A>C (p.Ile1790Leu) | |
| 14 | g.23415187G>A | CA485766262 | MYH7 | c.5367C>T (p.Thr1789=) | ClinVar dbSNP |
| 14 | g.23415187G>C | CA485766261 | MYH7 | c.5367C>G (p.Thr1789=) | gnomAD v4 |
| 14 | g.23415187G= | CA2123462369 | MYH7 | c.5367C= (p.Thr1789=) | |
| 14 | g.23415187G>T | CA485766260 | MYH7 | c.5367C>A (p.Thr1789=) | |
| 14 | g.23415187_23415190delinsGGTC | CA2123462368 | MYH7 | c.5364_5367delinsGACC (p.Gln1788=) | |
| 14 | g.23415188G>A | CA389035714 | MYH7 | c.5366C>T (p.Thr1789Ile) | |
| 14 | g.23415188G>C | CA389035715 | MYH7 | c.5366C>G (p.Thr1789Ser) | |
| 14 | g.23415188G>T | CA389035716 | MYH7 | c.5366C>A (p.Thr1789Asn) | |
| 14 | g.23415188_23415190del | CA10577513 | MYH7 | c.5364_5366del (p.Gln1788_Thr1789delinsHis) | ClinVar dbSNP |
| 14 | g.23415189T>A | CA389035718 | MYH7 | c.5365A>T (p.Thr1789Ser) | |
| 14 | g.23415189T>C | CA389035717 | MYH7 | c.5365A>G (p.Thr1789Ala) | ClinVar |
| 14 | g.23415189T>G | CA389035719 | MYH7 | c.5365A>C (p.Thr1789Pro) | |
| 14 | g.23415190C>A | CA389035720 | MYH7 | c.5364G>T (p.Gln1788His) | |
| 14 | g.23415190C= | CA2123462377 | MYH7 | c.5364G= (p.Gln1788=) | |
| 14 | g.23415190C>G | CA389035721 | MYH7 | c.5364G>C (p.Gln1788His) | |
| 14 | g.23415190C>T | CA257809113 | MYH7 | c.5364G>A (p.Gln1788=) | dbSNP |
| 14 | g.23415191T>A | CA389035722 | MYH7 | c.5363A>T (p.Gln1788Leu) | |
| 14 | g.23415191T>C | CA046577 | MYH7 | c.5363A>G (p.Gln1788Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415191T>G | CA389035723 | MYH7 | c.5363A>C (p.Gln1788Pro) | |
| 14 | g.23415191T= | CA2123462380 | MYH7 | c.5363A= (p.Gln1788=) | |
| 14 | g.23415192G>A | CA389035724 | MYH7 | c.5362C>T (p.Gln1788Ter) | |
| 14 | g.23415192G>C | CA389035725 | MYH7 | c.5362C>G (p.Gln1788Glu) | dbSNP |
| 14 | g.23415192G= | CA2123462383 | MYH7 | c.5362C= (p.Gln1788=) | |
| 14 | g.23415192G>T | CA389035726 | MYH7 | c.5362C>A (p.Gln1788Lys) | |
| 14 | g.23415193T>A | CA389035727 | MYH7 | c.5361A>T (p.Glu1787Asp) | |
| 14 | g.23415193T>C | CA016008 | MYH7 | c.5361A>G (p.Glu1787=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23415193T>G | CA389035728 | MYH7 | c.5361A>C (p.Glu1787Asp) | ClinVar |
| 14 | g.23415193T= | CA2123462389 | MYH7 | c.5361A= (p.Glu1787=) | |
| 14 | g.23415194T>A | CA389035731 | MYH7 | c.5360A>T (p.Glu1787Val) | |
| 14 | g.23415194T>C | CA389035729 | MYH7 | c.5360A>G (p.Glu1787Gly) | ClinVar |
| 14 | g.23415194T>G | CA389035730 | MYH7 | c.5360A>C (p.Glu1787Ala) | |
| 14 | g.23415195C>A | CA389035732 | MYH7 | c.5359G>T (p.Glu1787Ter) | |
| 14 | g.23415195C= | CA2123462409 | MYH7 | c.5359G= (p.Glu1787=) | |
| 14 | g.23415195C>G | CA389035733 | MYH7 | c.5359G>C (p.Glu1787Gln) | ClinVar dbSNP |
| 14 | g.23415195C>T | CA389035734 | MYH7 | c.5359G>A (p.Glu1787Lys) | ClinVar COSMIC |
| 14 | g.23415196C>A | CA389035735 | MYH7 | c.5358G>T (p.Met1786Ile) | |
| 14 | g.23415196C>G | CA389035736 | MYH7 | c.5358G>C (p.Met1786Ile) | |
| 14 | g.23415196C>T | CA389035737 | MYH7 | c.5358G>A (p.Met1786Ile) | ClinVar |
| 14 | g.23415197A>C | CA389035738 | MYH7 | c.5357T>G (p.Met1786Arg) | |
| 14 | g.23415197A>G | CA389035739 | MYH7 | c.5357T>C (p.Met1786Thr) | |
| 14 | g.23415197A>T | CA389035740 | MYH7 | c.5357T>A (p.Met1786Lys) | |
| 14 | g.23415198T>A | CA389035741 | MYH7 | c.5356A>T (p.Met1786Leu) | |
| 14 | g.23415198T>C | CA389035742 | MYH7 | c.5356A>G (p.Met1786Val) | |
| 14 | g.23415198T>G | CA389035743 | MYH7 | c.5356A>C (p.Met1786Leu) | |
| 14 | g.23415199G>A | CA485765832 | MYH7 | c.5355C>T (p.Asn1785=) | ClinVar |
| 14 | g.23415199G>C | CA389035744 | MYH7 | c.5355C>G (p.Asn1785Lys) | |
| 14 | g.23415199G>T | CA389035745 | MYH7 | c.5355C>A (p.Asn1785Lys) | |
| 14 | g.23415199_23415202delinsGTTC | CA2123462414 | MYH7 | c.5352_5355delinsGAAC (p.Lys1784=) | |
| 14 | g.23415200T>A | CA389035746 | MYH7 | c.5354A>T (p.Asn1785Ile) | |
| 14 | g.23415200T>C | CA389035747 | MYH7 | c.5354A>G (p.Asn1785Ser) | |
| 14 | g.23415200T>G | CA389035748 | MYH7 | c.5354A>C (p.Asn1785Thr) | |
| 14 | g.23415206_23415208del | CA016003 | MYH7 | c.5352_5354del (p.Lys1784del) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415201T>A | CA389035749 | MYH7 | c.5353A>T (p.Asn1785Tyr) | |
| 14 | g.23415201T>C | CA389035750 | MYH7 | c.5353A>G (p.Asn1785Asp) | ClinVar |
| 14 | g.23415201T>G | CA389035751 | MYH7 | c.5353A>C (p.Asn1785His) | |
| 14 | g.23415202C>A | CA389035752 | MYH7 | c.5352G>T (p.Lys1784Asn) | |
| 14 | g.23415202C= | CA2123462423 | MYH7 | c.5352G= (p.Lys1784=) | |
| 14 | g.23415202C>G | CA389035753 | MYH7 | c.5352G>C (p.Lys1784Asn) | |
| 14 | g.23415202C>T | CA046549 | MYH7 | c.5352G>A (p.Lys1784=) | dbSNP ExAC gnomAD v2 |
| 14 | g.23415203T>A | CA389035754 | MYH7 | c.5351A>T (p.Lys1784Met) | |
| 14 | g.23415203T>C | CA389035755 | MYH7 | c.5351A>G (p.Lys1784Arg) | dbSNP |
| 14 | g.23415203T>G | CA389035756 | MYH7 | c.5351A>C (p.Lys1784Thr) | |
| 14 | g.23415203T= | CA2123462428 | MYH7 | c.5351A= (p.Lys1784=) | |
| 14 | g.23415204dup | CA2624231972 | MYH7 | c.5351dup (p.Asn1785GlufsTer7) | gnomAD v4 |
| 14 | g.23415204T>A | CA389035759 | MYH7 | c.5350A>T (p.Lys1784Ter) | |
| 14 | g.23415204T>C | CA389035757 | MYH7 | c.5350A>G (p.Lys1784Glu) | |
| 14 | g.23415204T>G | CA389035758 | MYH7 | c.5350A>C (p.Lys1784Gln) | |
| 14 | g.23415205C>A | CA389035760 | MYH7 | c.5349G>T (p.Lys1783Asn) | gnomAD v4 |
| 14 | g.23415205C>G | CA389035761 | MYH7 | c.5349G>C (p.Lys1783Asn) | |
| 14 | g.23415205C>T | CA485765840 | MYH7 | c.5349G>A (p.Lys1783=) | ClinVar dbSNP |
| 14 | g.23415206T>A | CA389035762 | MYH7 | c.5348A>T (p.Lys1783Met) | |
| 14 | g.23415206T>C | CA046537 | MYH7 | c.5348A>G (p.Lys1783Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415206T>G | CA389035763 | MYH7 | c.5348A>C (p.Lys1783Thr) | |
| 14 | g.23415206T= | CA2123462432 | MYH7 | c.5348A= (p.Lys1783=) | |
| 14 | g.23415207T>A | CA389035764 | MYH7 | c.5347A>T (p.Lys1783Ter) | |
| 14 | g.23415207T>C | CA389035765 | MYH7 | c.5347A>G (p.Lys1783Glu) | |
| 14 | g.23415207T>G | CA389035766 | MYH7 | c.5347A>C (p.Lys1783Gln) | |
| 14 | g.23415208C>A | CA389035767 | MYH7 | c.5346G>T (p.Met1782Ile) | |
| 14 | g.23415208C= | CA2123462439 | MYH7 | c.5346G= (p.Met1782=) | |
| 14 | g.23415208C>G | CA389035768 | MYH7 | c.5346G>C (p.Met1782Ile) | |
| 14 | g.23415208C>T | CA389035769 | MYH7 | c.5346G>A (p.Met1782Ile) | ClinVar dbSNP |
| 14 | g.23415209A>C | CA389035772 | MYH7 | c.5345T>G (p.Met1782Arg) | |
| 14 | g.23415209A>G | CA389035771 | MYH7 | c.5345T>C (p.Met1782Thr) | |
| 14 | g.23415209A>T | CA389035770 | MYH7 | c.5345T>A (p.Met1782Lys) | |
| 14 | g.23415210T>A | CA389035773 | MYH7 | c.5344A>T (p.Met1782Leu) | |
| 14 | g.23415210T>C | CA015994 | MYH7 | c.5344A>G (p.Met1782Val) | ClinVar dbSNP |
| 14 | g.23415210T>G | CA389035774 | MYH7 | c.5344A>C (p.Met1782Leu) | gnomAD v4 |
| 14 | g.23415210T= | CA2123462445 | MYH7 | c.5344A= (p.Met1782=) | |
| 14 | g.23415211G>A | CA485765843 | MYH7 | c.5343C>T (p.Arg1781=) | |
| 14 | g.23415211G>C | CA485765842 | MYH7 | c.5343C>G (p.Arg1781=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23415211G= | CA2123462448 | MYH7 | c.5343C= (p.Arg1781=) | |
| 14 | g.23415211G>T | CA485765841 | MYH7 | c.5343C>A (p.Arg1781=) | |
| 14 | g.23415212C>A | CA389035775 | MYH7 | c.5342G>T (p.Arg1781Leu) | ClinVar dbSNP |
| 14 | g.23415212C= | CA2123462451 | MYH7 | c.5342G= (p.Arg1781=) | |
| 14 | g.23415212C>G | CA389035776 | MYH7 | c.5342G>C (p.Arg1781Pro) | |
| 14 | g.23415212C>T | CA015985 | MYH7 | c.5342G>A (p.Arg1781His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23415213G>A | CA015976 | MYH7 | c.5341C>T (p.Arg1781Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415213G>C | CA389035777 | MYH7 | c.5341C>G (p.Arg1781Gly) | |
| 14 | g.23415213G= | CA2123462463 | MYH7 | c.5341C= (p.Arg1781=) | |
| 14 | g.23415213G>T | CA389035778 | MYH7 | c.5341C>A (p.Arg1781Ser) | |
| 14 | g.23415214C>A | CA389035779 | MYH7 | c.5340G>T (p.Glu1780Asp) | |
| 14 | g.23415214C= | CA2123462473 | MYH7 | c.5340G= (p.Glu1780=) | |
| 14 | g.23415214C>G | CA389035780 | MYH7 | c.5340G>C (p.Glu1780Asp) | |
| 14 | g.23415214C>T | CA046518 | MYH7 | c.5340G>A (p.Glu1780=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415215T>A | CA389035781 | MYH7 | c.5339A>T (p.Glu1780Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23415215T>C | CA389035782 | MYH7 | c.5339A>G (p.Glu1780Gly) | |
| 14 | g.23415215T>G | CA389035783 | MYH7 | c.5339A>C (p.Glu1780Ala) | |
| 14 | g.23415215T= | CA2123462487 | MYH7 | c.5339A= (p.Glu1780=) | |
| 14 | g.23415216C>A | CA389035784 | MYH7 | c.5338G>T (p.Glu1780Ter) | COSMIC |
| 14 | g.23415216C>G | CA389035786 | MYH7 | c.5338G>C (p.Glu1780Gln) | |
| 14 | g.23415216C>T | CA389035785 | MYH7 | c.5338G>A (p.Glu1780Lys) | |
| 14 | g.23415217C>A | CA485765844 | MYH7 | c.5337G>T (p.Leu1779=) | COSMIC |
| 14 | g.23415217C>G | CA485765845 | MYH7 | c.5337G>C (p.Leu1779=) | |
| 14 | g.23415217C>T | CA485765846 | MYH7 | c.5337G>A (p.Leu1779=) | |
| 14 | g.23415218A>C | CA389035787 | MYH7 | c.5336T>G (p.Leu1779Arg) | |
| 14 | g.23415218A>G | CA389035788 | MYH7 | c.5336T>C (p.Leu1779Pro) | |
| 14 | g.23415218A>T | CA389035789 | MYH7 | c.5336T>A (p.Leu1779Gln) | |
| 14 | g.23415219G>A | CA485765847 | MYH7 | c.5335C>T (p.Leu1779=) | dbSNP COSMIC |
| 14 | g.23415219G>C | CA389035790 | MYH7 | c.5335C>G (p.Leu1779Val) | |
| 14 | g.23415219G= | CA2123462494 | MYH7 | c.5335C= (p.Leu1779=) | |
| 14 | g.23415219G>T | CA389035791 | MYH7 | c.5335C>A (p.Leu1779Met) | COSMIC |
| 14 | g.23415220G>A | CA485765848 | MYH7 | c.5334C>T (p.His1778=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23415220G>C | CA389035792 | MYH7 | c.5334C>G (p.His1778Gln) | |
| 14 | g.23415220G= | CA2123462499 | MYH7 | c.5334C= (p.His1778=) | |
| 14 | g.23415220G>T | CA389035793 | MYH7 | c.5334C>A (p.His1778Gln) | |
| 14 | g.23415221T>A | CA389035794 | MYH7 | c.5333A>T (p.His1778Leu) | |
| 14 | g.23415221T>C | CA389035796 | MYH7 | c.5333A>G (p.His1778Arg) | |
| 14 | g.23415221T>G | CA389035797 | MYH7 | c.5333A>C (p.His1778Pro) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415221T= | CA2123462506 | MYH7 | c.5333A= (p.His1778=) | |
| 14 | g.23415222G>A | CA015967 | MYH7 | c.5332C>T (p.His1778Tyr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415222G>C | CA389035801 | MYH7 | c.5332C>G (p.His1778Asp) | |
| 14 | g.23415222G= | CA2123462518 | MYH7 | c.5332C= (p.His1778=) | |
| 14 | g.23415222G>T | CA389035799 | MYH7 | c.5332C>A (p.His1778Asn) | |
| 14 | g.23415223G>A | CA485765849 | MYH7 | c.5331C>T (p.Ala1777=) | |
| 14 | g.23415223G>C | CA485765850 | MYH7 | c.5331C>G (p.Ala1777=) | |
| 14 | g.23415223G>T | CA485765851 | MYH7 | c.5331C>A (p.Ala1777=) | |
| 14 | g.23415224G>A | CA389035803 | MYH7 | c.5330C>T (p.Ala1777Val) | |
| 14 | g.23415224G>C | CA389035804 | MYH7 | c.5330C>G (p.Ala1777Gly) | |
| 14 | g.23415224G>T | CA389035805 | MYH7 | c.5330C>A (p.Ala1777Asp) | |
| 14 | g.23415225C>A | CA389035807 | MYH7 | c.5329G>T (p.Ala1777Ser) | |
| 14 | g.23415225C= | CA2123462531 | MYH7 | c.5329G= (p.Ala1777=) | |
| 14 | g.23415225C>G | CA389035808 | MYH7 | c.5329G>C (p.Ala1777Pro) | |
| 14 | g.23415225C>T | CA015952 | MYH7 | c.5329G>A (p.Ala1777Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415226G>A | CA046493 | MYH7 | c.5328C>T (p.Ser1776=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415226G>C | CA389035811 | MYH7 | c.5328C>G (p.Ser1776Arg) | |
| 14 | g.23415226G= | CA2123462543 | MYH7 | c.5328C= (p.Ser1776=) | |
| 14 | g.23415226G>T | CA389035813 | MYH7 | c.5328C>A (p.Ser1776Arg) | |
| 14 | g.23415227C>A | CA389035815 | MYH7 | c.5327G>T (p.Ser1776Ile) | |
| 14 | g.23415227C>G | CA389035816 | MYH7 | c.5327G>C (p.Ser1776Thr) | |
| 14 | g.23415227C>T | CA389035818 | MYH7 | c.5327G>A (p.Ser1776Asn) | |
| 14 | g.23415228T>A | CA389035821 | MYH7 | c.5326A>T (p.Ser1776Cys) | |
| 14 | g.23415228T>C | CA015944 | MYH7 | c.5326A>G (p.Ser1776Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415228T>G | CA389035820 | MYH7 | c.5326A>C (p.Ser1776Arg) | |
| 14 | g.23415228T= | CA2123462558 | MYH7 | c.5326A= (p.Ser1776=) | |
| 14 | g.23415229G>A | CA485765859 | MYH7 | c.5325C>T (p.Thr1775=) | ClinVar |
| 14 | g.23415229G>C | CA485765860 | MYH7 | c.5325C>G (p.Thr1775=) | |
| 14 | g.23415229G>T | CA485765861 | MYH7 | c.5325C>A (p.Thr1775=) | |
| 14 | g.23415230G>A | CA389035823 | MYH7 | c.5324C>T (p.Thr1775Ile) | ClinVar dbSNP |
| 14 | g.23415230G>C | CA389035825 | MYH7 | c.5324C>G (p.Thr1775Ser) | |
| 14 | g.23415230G>T | CA389035826 | MYH7 | c.5324C>A (p.Thr1775Asn) | |
| 14 | g.23415231T>A | CA389035828 | MYH7 | c.5323A>T (p.Thr1775Ser) | |
| 14 | g.23415231T>C | CA389035829 | MYH7 | c.5323A>G (p.Thr1775Ala) | gnomAD v4 COSMIC |
| 14 | g.23415231T>G | CA389035831 | MYH7 | c.5323A>C (p.Thr1775Pro) | |
| 14 | g.23415232G>A | CA485765863 | MYH7 | c.5322C>T (p.Asp1774=) | |
| 14 | g.23415232G>C | CA389035833 | MYH7 | c.5322C>G (p.Asp1774Glu) | |
| 14 | g.23415232G>T | CA389035835 | MYH7 | c.5322C>A (p.Asp1774Glu) | |
| 14 | g.23415233T>A | CA389035836 | MYH7 | c.5321A>T (p.Asp1774Val) | |
| 14 | g.23415233T>C | CA389035837 | MYH7 | c.5321A>G (p.Asp1774Gly) | |
| 14 | g.23415233T>G | CA389035839 | MYH7 | c.5321A>C (p.Asp1774Ala) | |
| 14 | g.23415233_23415234delinsTC | CA2123462569 | MYH7 | c.5320_5321delinsGA (p.Asp1774=) | |
| 14 | g.23415234C>A | CA389035841 | MYH7 | c.5320G>T (p.Asp1774Tyr) | gnomAD v4 |
| 14 | g.23415234C>G | CA389035843 | MYH7 | c.5320G>C (p.Asp1774His) | |
| 14 | g.23415234C>T | CA389035844 | MYH7 | c.5320G>A (p.Asp1774Asn) | |
| 14 | g.23415235del | CA613317638 | MYH7 | c.5320del (p.Asp1774ThrfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23415235C>A | CA389035846 | MYH7 | c.5319G>T (p.Gln1773His) | |
| 14 | g.23415235C>G | CA389035845 | MYH7 | c.5319G>C (p.Gln1773His) | |
| 14 | g.23415235C>T | CA485765868 | MYH7 | c.5319G>A (p.Gln1773=) | ClinVar gnomAD v4 |
| 14 | g.23415236T>A | CA389035847 | MYH7 | c.5318A>T (p.Gln1773Leu) | |
| 14 | g.23415236T>C | CA389035850 | MYH7 | c.5318A>G (p.Gln1773Arg) | |
| 14 | g.23415236T>G | CA389035849 | MYH7 | c.5318A>C (p.Gln1773Pro) | |
| 14 | g.23415237G>A | CA389035852 | MYH7 | c.5317C>T (p.Gln1773Ter) | COSMIC |
| 14 | g.23415237G>C | CA389035853 | MYH7 | c.5317C>G (p.Gln1773Glu) | |
| 14 | g.23415237G= | CA2123462585 | MYH7 | c.5317C= (p.Gln1773=) | |
| 14 | g.23415237G>T | CA015939 | MYH7 | c.5317C>A (p.Gln1773Lys) | ClinVar dbSNP |
| 14 | g.23415237dup | CA2580087929 | MYH7 | c.5317dup (p.Gln1773ProfsTer19) | ClinVar |
| 14 | g.23415238C>A | CA389035854 | MYH7 | c.5316G>T (p.Glu1772Asp) | ClinVar |
| 14 | g.23415238C= | CA2123462590 | MYH7 | c.5316G= (p.Glu1772=) | |
| 14 | g.23415238C>G | CA389035856 | MYH7 | c.5316G>C (p.Glu1772Asp) | |
| 14 | g.23415238C>T | CA046459 | MYH7 | c.5316G>A (p.Glu1772=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415239T>A | CA389035857 | MYH7 | c.5315A>T (p.Glu1772Val) | |
| 14 | g.23415239T>C | CA389035859 | MYH7 | c.5315A>G (p.Glu1772Gly) | gnomAD v4 |
| 14 | g.23415239T>G | CA389035861 | MYH7 | c.5315A>C (p.Glu1772Ala) | |
| 14 | g.23415240C>A | CA389035862 | MYH7 | c.5314G>T (p.Glu1772Ter) | |
| 14 | g.23415240C= | CA2123462600 | MYH7 | c.5314G= (p.Glu1772=) | |
| 14 | g.23415240C>G | CA389035864 | MYH7 | c.5314G>C (p.Glu1772Gln) | COSMIC |
| 14 | g.23415240C>T | CA389035865 | MYH7 | c.5314G>A (p.Glu1772Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23415241C>A | CA389035866 | MYH7 | c.5313G>T (p.Lys1771Asn) | |
| 14 | g.23415241C= | CA2123462603 | MYH7 | c.5313G= (p.Lys1771=) | |
| 14 | g.23415241C>G | CA389035868 | MYH7 | c.5313G>C (p.Lys1771Asn) | |
| 14 | g.23415241C>T | CA046396 | MYH7 | c.5313G>A (p.Lys1771=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23415242T>A | CA389035870 | MYH7 | c.5312A>T (p.Lys1771Met) | |
| 14 | g.23415242T>C | CA389035872 | MYH7 | c.5312A>G (p.Lys1771Arg) | ClinVar dbSNP |
| 14 | g.23415242T>G | CA389035873 | MYH7 | c.5312A>C (p.Lys1771Thr) | |
| 14 | g.23415243T>A | CA389035875 | MYH7 | c.5311A>T (p.Lys1771Ter) | |
| 14 | g.23415243T>C | CA389035877 | MYH7 | c.5311A>G (p.Lys1771Glu) | |
| 14 | g.23415243T>G | CA389035876 | MYH7 | c.5311A>C (p.Lys1771Gln) | |
| 14 | g.23415244C>A | CA389035879 | MYH7 | c.5310G>T (p.Lys1770Asn) | gnomAD v4 |
| 14 | g.23415244C= | CA2123462606 | MYH7 | c.5310G= (p.Lys1770=) | |
| 14 | g.23415244C>G | CA389035880 | MYH7 | c.5310G>C (p.Lys1770Asn) | |
| 14 | g.23415244C>T | CA046302 | MYH7 | c.5310G>A (p.Lys1770=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23415245T>A | CA389035882 | MYH7 | c.5309A>T (p.Lys1770Met) | |
| 14 | g.23415245T>C | CA389035884 | MYH7 | c.5309A>G (p.Lys1770Arg) | |
| 14 | g.23415245T>G | CA389035886 | MYH7 | c.5309A>C (p.Lys1770Thr) | |
| 14 | g.23415246T>A | CA389035887 | MYH7 | c.5308A>T (p.Lys1770Ter) | |
| 14 | g.23415246T>C | CA389035888 | MYH7 | c.5308A>G (p.Lys1770Glu) | |
| 14 | g.23415246T>G | CA389035890 | MYH7 | c.5308A>C (p.Lys1770Gln) | |
| 14 | g.23415247C>A | CA485765884 | MYH7 | c.5307G>T (p.Leu1769=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23415247C= | CA2123462610 | MYH7 | c.5307G= (p.Leu1769=) | |
| 14 | g.23415247C>G | CA485765888 | MYH7 | c.5307G>C (p.Leu1769=) | |
| 14 | g.23415247C>T | CA485765886 | MYH7 | c.5307G>A (p.Leu1769=) | gnomAD v4 |
| 14 | g.23415248A= | CA2123462611 | MYH7 | c.5306T= (p.Leu1769=) | |
| 14 | g.23415248A>C | CA389035894 | MYH7 | c.5306T>G (p.Leu1769Arg) | |
| 14 | g.23415248A>G | CA389035893 | MYH7 | c.5306T>C (p.Leu1769Pro) | ClinVar dbSNP |
| 14 | g.23415248A>T | CA389035892 | MYH7 | c.5306T>A (p.Leu1769Gln) | |
| 14 | g.23415249G>A | CA485765891 | MYH7 | c.5305C>T (p.Leu1769=) | |
| 14 | g.23415249G>C | CA389035896 | MYH7 | c.5305C>G (p.Leu1769Val) | |
| 14 | g.23415249G= | CA2123462615 | MYH7 | c.5305C= (p.Leu1769=) | |
| 14 | g.23415249G>T | CA015902 | MYH7 | c.5305C>A (p.Leu1769Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415250C>A | CA389035899 | MYH7 | c.5304G>T (p.Glu1768Asp) | |
| 14 | g.23415250C= | CA2123462622 | MYH7 | c.5304G= (p.Glu1768=) | |
| 14 | g.23415250C>G | CA389035900 | MYH7 | c.5304G>C (p.Glu1768Asp) | |
| 14 | g.23415250C>T | CA485765895 | MYH7 | c.5304G>A (p.Glu1768=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23415251T>A | CA046213 | MYH7 | c.5303A>T (p.Glu1768Val) | dbSNP ExAC gnomAD v2 |
| 14 | g.23415251T>C | CA389035902 | MYH7 | c.5303A>G (p.Glu1768Gly) | |
| 14 | g.23415251T>G | CA389035903 | MYH7 | c.5303A>C (p.Glu1768Ala) | |
| 14 | g.23415251T= | CA2123462629 | MYH7 | c.5303A= (p.Glu1768=) | |
| 14 | g.23415251_23415252delinsAT | CA10576951 | MYH7 | c.5302_5303delinsAT (p.Glu1768Met) | ClinVar dbSNP |
| 14 | g.23415251_23415252delinsTC | CA2123462630 | MYH7 | c.5302_5303delinsGA (p.Glu1768=) | |
| 14 | g.23415252C>A | CA389035906 | MYH7 | c.5302G>T (p.Glu1768Ter) | |
| 14 | g.23415252C= | CA2123462637 | MYH7 | c.5302G= (p.Glu1768=) | |
| 14 | g.23415252C>G | CA389035907 | MYH7 | c.5302G>C (p.Glu1768Gln) | |
| 14 | g.23415252C>T | CA015893 | MYH7 | c.5302G>A (p.Glu1768Lys) | ClinVar dbSNP |
| 14 | g.23415255_23415272del | CA2573149769 | MYH7 | c.5285_5302del | ClinVar dbSNP |
| 14 | g.23415253C>A | CA389035909 | MYH7 | c.5301G>T (p.Glu1767Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23415253C= | CA2123462644 | MYH7 | c.5301G= (p.Glu1767=) | |
| 14 | g.23415253C>G | CA389035908 | MYH7 | c.5301G>C (p.Glu1767Asp) | |
| 14 | g.23415253C>T | CA046164 | MYH7 | c.5301G>A (p.Glu1767=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415254T>A | CA389035911 | MYH7 | c.5300A>T (p.Glu1767Val) | |
| 14 | g.23415254T>C | CA389035912 | MYH7 | c.5300A>G (p.Glu1767Gly) | |
| 14 | g.23415254T>G | CA389035914 | MYH7 | c.5300A>C (p.Glu1767Ala) | |
| 14 | g.23415255C>A | CA389035916 | MYH7 | c.5299G>T (p.Glu1767Ter) | |
| 14 | g.23415255C>G | CA389035917 | MYH7 | c.5299G>C (p.Glu1767Gln) | |
| 14 | g.23415255C>T | CA389035919 | MYH7 | c.5299G>A (p.Glu1767Lys) | |
| 14 | g.23415256T>A | CA485765907 | MYH7 | c.5298A>T (p.Ala1766=) | |
| 14 | g.23415256T>C | CA485765905 | MYH7 | c.5298A>G (p.Ala1766=) | |
| 14 | g.23415256T>G | CA485765906 | MYH7 | c.5298A>C (p.Ala1766=) | |
| 14 | g.23415257G>A | CA389035920 | MYH7 | c.5297C>T (p.Ala1766Val) | gnomAD v4 |
| 14 | g.23415257G>C | CA389035922 | MYH7 | c.5297C>G (p.Ala1766Gly) | |
| 14 | g.23415257G>T | CA389035923 | MYH7 | c.5297C>A (p.Ala1766Glu) | |
| 14 | g.23415258C>A | CA389035924 | MYH7 | c.5296G>T (p.Ala1766Ser) | dbSNP |
| 14 | g.23415258C= | CA2123462653 | MYH7 | c.5296G= (p.Ala1766=) | |
| 14 | g.23415258C>G | CA389035926 | MYH7 | c.5296G>C (p.Ala1766Pro) | |
| 14 | g.23415258C>T | CA015871 | MYH7 | c.5296G>A (p.Ala1766Thr) | ClinVar dbSNP |
| 14 | g.23415259C>A | CA389035929 | MYH7 | c.5295G>T (p.Met1765Ile) | |
| 14 | g.23415259C= | CA2123462663 | MYH7 | c.5295G= (p.Met1765=) | |
| 14 | g.23415259C>G | CA389035931 | MYH7 | c.5295G>C (p.Met1765Ile) | |
| 14 | g.23415259C>T | CA389035928 | MYH7 | c.5295G>A (p.Met1765Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23415260A= | CA2123462665 | MYH7 | c.5294T= (p.Met1765=) | |
| 14 | g.23415260A>C | CA389035932 | MYH7 | c.5294T>G (p.Met1765Arg) | |
| 14 | g.23415260A>G | CA389035934 | MYH7 | c.5294T>C (p.Met1765Thr) | |
| 14 | g.23415260A>T | CA389035935 | MYH7 | c.5294T>A (p.Met1765Lys) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415261T>A | CA389035937 | MYH7 | c.5293A>T (p.Met1765Leu) | |
| 14 | g.23415261T>C | CA046139 | MYH7 | c.5293A>G (p.Met1765Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23415261T>G | CA389035942 | MYH7 | c.5293A>C (p.Met1765Leu) | |
| 14 | g.23415261T= | CA2123462673 | MYH7 | c.5293A= (p.Met1765=) | |
| 14 | g.23415262C>A | CA389035944 | MYH7 | c.5292G>T (p.Met1764Ile) | |
| 14 | g.23415262C>G | CA389035946 | MYH7 | c.5292G>C (p.Met1764Ile) | |
| 14 | g.23415262C>T | CA389035948 | MYH7 | c.5292G>A (p.Met1764Ile) | ClinVar gnomAD v4 |
| 14 | g.23415263A= | CA2123462685 | MYH7 | c.5291T= (p.Met1764=) | |
| 14 | g.23415263A>C | CA389035950 | MYH7 | c.5291T>G (p.Met1764Arg) | |
| 14 | g.23415263A>G | CA389035951 | MYH7 | c.5291T>C (p.Met1764Thr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415263A>T | CA389035953 | MYH7 | c.5291T>A (p.Met1764Lys) | dbSNP |
| 14 | g.23415264T>A | CA389035959 | MYH7 | c.5290A>T (p.Met1764Leu) | gnomAD v4 |
| 14 | g.23415264T>C | CA389035957 | MYH7 | c.5290A>G (p.Met1764Val) | |
| 14 | g.23415264T>G | CA389035955 | MYH7 | c.5290A>C (p.Met1764Leu) | |
| 14 | g.23415265G>A | CA485765917 | MYH7 | c.5289C>T (p.Ala1763=) | dbSNP |
| 14 | g.23415265G>C | CA485765918 | MYH7 | c.5289C>G (p.Ala1763=) | |
| 14 | g.23415265G= | CA2123462693 | MYH7 | c.5289C= (p.Ala1763=) | |
| 14 | g.23415265G>T | CA485765919 | MYH7 | c.5289C>A (p.Ala1763=) | |
| 14 | g.23415266G>A | CA046126 | MYH7 | c.5288C>T (p.Ala1763Val) | dbSNP ExAC gnomAD v2 |
| 14 | g.23415266G>C | CA389035962 | MYH7 | c.5288C>G (p.Ala1763Gly) | |
| 14 | g.23415266G= | CA2123462697 | MYH7 | c.5288C= (p.Ala1763=) | |
| 14 | g.23415266G>T | CA389035964 | MYH7 | c.5288C>A (p.Ala1763Asp) | |
| 14 | g.23415267C>A | CA389035966 | MYH7 | c.5287G>T (p.Ala1763Ser) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23415267C= | CA2123462710 | MYH7 | c.5287G= (p.Ala1763=) | |
| 14 | g.23415267C>G | CA389035968 | MYH7 | c.5287G>C (p.Ala1763Pro) | |
| 14 | g.23415267C>T | CA015861 | MYH7 | c.5287G>A (p.Ala1763Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23415268G>A | CA046092 | MYH7 | c.5286C>T (p.Ala1762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23415268G>C | CA485765923 | MYH7 | c.5286C>G (p.Ala1762=) | |
| 14 | g.23415268G= | CA2123462713 | MYH7 | c.5286C= (p.Ala1762=) | |
| 14 | g.23415268G>T | CA046082 | MYH7 | c.5286C>A (p.Ala1762=) | dbSNP ExAC gnomAD v2 |
| 14 | g.23415269del | CA2624232153 | MYH7 | c.5286del (p.Ala1763ProfsTer2) | gnomAD v4 |