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.23432511_23432642del | CA2800875350 | MYH7 | c.502+1_503-1del n.608+1_609-1del | |
| 14 | g.23432607C>A | CA2575486924 | MYH7 | c.502+32G>T (n.502+32G>T) n.608+32G>T | |
| 14 | g.23432607C= | CA2123453909 | MYH7 | c.502+32G= (n.502+32G=) n.608+32G= | |
| 14 | g.23432607C>G | CA961070726 | MYH7 | c.502+32G>C (n.502+32G>C) n.608+32G>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432607C>T | CA044890 | MYH7 | c.502+32G>A (n.502+32G>A) n.608+32G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432613_23432625del | CA2575486923 | MYH7 | c.502+20_502+32del (n.502+20_502+32del) n.608+20_608+32del | |
| 14 | g.23432608C= | CA2123453912 | MYH7 | c.502+31G= (n.502+31G=) n.608+31G= | |
| 14 | g.23432608C>T | CA044884 | MYH7 | c.502+31G>A (n.502+31G>A) n.608+31G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432609C>A | CA2575486926 | MYH7 | c.502+30G>T (n.502+30G>T) n.608+30G>T | |
| 14 | g.23432610T>C | CA704269869 | MYH7 | c.502+29A>G (n.502+29A>G) n.608+29A>G | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432610T= | CA2123453916 | MYH7 | c.502+29A= (n.502+29A=) n.608+29A= | |
| 14 | g.23432611T>G | CA257826488 | MYH7 | c.502+28A>C (n.502+28A>C) n.608+28A>C | dbSNP |
| 14 | g.23432611T= | CA2123453918 | MYH7 | c.502+28A= (n.502+28A=) n.608+28A= | |
| 14 | g.23432612C>A | CA2123453921 | MYH7 | c.502+27G>T (n.502+27G>T) n.608+27G>T | dbSNP |
| 14 | g.23432612C= | CA2123453920 | MYH7 | c.502+27G= (n.502+27G=) n.608+27G= | |
| 14 | g.23432613A= | CA2123453926 | MYH7 | c.502+26T= (n.502+26T=) n.608+26T= | |
| 14 | g.23432613A>G | CA044872 | MYH7 | c.502+26T>C (n.502+26T>C) n.608+26T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432618G>T | CA2575486927 | MYH7 | c.502+21C>A (n.502+21C>A) n.608+21C>A | |
| 14 | g.23432621C>A | CA2123453931 | MYH7 | c.502+18G>T (n.502+18G>T) n.608+18G>T | dbSNP gnomAD v4 |
| 14 | g.23432621C= | CA2123453929 | MYH7 | c.502+18G= (n.502+18G=) n.608+18G= | |
| 14 | g.23432621C>G | CA704269876 | MYH7 | c.502+18G>C (n.502+18G>C) n.608+18G>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432621C>T | CA257826490 | MYH7 | c.502+18G>A (n.502+18G>A) n.608+18G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432622C>A | CA2800875363 | MYH7 | c.502+17G>T (n.502+17G>T) n.608+17G>T | |
| 14 | g.23432625C>T | CA2624252210 | MYH7 | c.502+14G>A (n.502+14G>A) n.608+14G>A | gnomAD v4 |
| 14 | g.23432627A= | CA2123453933 | MYH7 | c.502+12T= (n.502+12T=) n.608+12T= | |
| 14 | g.23432627A>G | CA044865 | MYH7 | c.502+12T>C (n.502+12T>C) n.608+12T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432628G>T | CA2575486931 | MYH7 | c.502+11C>A (n.502+11C>A) n.608+11C>A | |
| 14 | g.23432629G>C | CA257826493 | MYH7 | c.502+10C>G (n.502+10C>G) n.608+10C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432629G= | CA2123453938 | MYH7 | c.502+10C= (n.502+10C=) n.608+10C= | |
| 14 | g.23432630G>A | CA044960 | MYH7 | c.502+9C>T (n.502+9C>T) n.608+9C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 14 | g.23432630G= | CA2123453939 | MYH7 | c.502+9C= (n.502+9C=) n.608+9C= | |
| 14 | g.23432631C>A | CA257826503 | MYH7 | c.502+8G>T (n.502+8G>T) n.608+8G>T | dbSNP |
| 14 | g.23432631C= | CA2123453940 | MYH7 | c.502+8G= (n.502+8G=) n.608+8G= | |
| 14 | g.23432633T>C | CA044944 | MYH7 | c.502+6A>G (n.502+6A>G) n.608+6A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432633T= | CA2123453942 | MYH7 | c.502+6A= (n.502+6A=) n.608+6A= | |
| 14 | g.23432634C>G | CA2624252215 | MYH7 | c.502+5G>C (n.502+5G>C) n.608+5G>C | gnomAD v4 |
| 14 | g.23432634C>T | CA2575486934 | MYH7 | c.502+5G>A (n.502+5G>A) n.608+5G>A | gnomAD v4 |
| 14 | g.23432635T>C | CA2624252227 | MYH7 | c.502+4A>G (n.502+4A>G) n.608+4A>G | gnomAD v4 |
| 14 | g.23432636C>T | CA2624252228 | MYH7 | c.502+3G>A (n.502+3G>A) n.608+3G>A | gnomAD v4 |
| 14 | g.23432637A>C | CA389052679 | MYH7 | c.502+2T>G (n.502+2T>G) n.608+2T>G | |
| 14 | g.23432637A>G | CA389052680 | MYH7 | c.502+2T>C (n.502+2T>C) n.608+2T>C | |
| 14 | g.23432637A>T | CA389052681 | MYH7 | c.502+2T>A (n.502+2T>A) n.608+2T>A | |
| 14 | g.23432638C>A | CA389052682 | MYH7 | c.502+1G>T (n.502+1G>T) n.608+1G>T | |
| 14 | g.23432638C>G | CA389052683 | MYH7 | c.502+1G>C (n.502+1G>C) n.608+1G>C | |
| 14 | g.23432638C>T | CA389052684 | MYH7 | c.502+1G>A (n.502+1G>A) n.608+1G>A | gnomAD v4 |
| 14 | g.23432639C>A | CA389052686 | MYH7 | c.502G>T (p.Asp168Tyr) n.608G>T | |
| 14 | g.23432639C= | CA2123453948 | MYH7 | c.502G= (p.Asp168=) n.608G= | |
| 14 | g.23432639C>G | CA389052685 | MYH7 | c.502G>C (p.Asp168His) n.608G>C | |
| 14 | g.23432639C>T | CA015588 | MYH7 | c.502G>A (p.Asp168Asn) n.608G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432640T>A | CA485626396 | MYH7 | c.501A>T (p.Thr167=) n.607A>T | COSMIC |
| 14 | g.23432640T>C | CA485626397 | MYH7 | c.501A>G (p.Thr167=) n.607A>G | |
| 14 | g.23432640T>G | CA485626398 | MYH7 | c.501A>C (p.Thr167=) n.607A>C | |
| 14 | g.23432641G>A | CA389052687 | MYH7 | c.500C>T (p.Thr167Ile) n.606C>T | ClinVar |
| 14 | g.23432641G>C | CA044722 | MYH7 | c.500C>G (p.Thr167Arg) n.606C>G | dbSNP ExAC |
| 14 | g.23432641G= | CA2123453958 | MYH7 | c.500C= (p.Thr167=) n.606C= | |
| 14 | g.23432641G>T | CA389052688 | MYH7 | c.500C>A (p.Thr167Lys) n.606C>A | |
| 14 | g.23432642T>A | CA389052689 | MYH7 | c.499A>T (p.Thr167Ser) n.605A>T | |
| 14 | g.23432642T>C | CA389052690 | MYH7 | c.499A>G (p.Thr167Ala) n.605A>G | |
| 14 | g.23432642T>G | CA389052691 | MYH7 | c.499A>C (p.Thr167Pro) n.605A>C | |
| 14 | g.23432643C>A | CA485626399 | MYH7 | c.498G>T (p.Leu166=) n.604G>T | |
| 14 | g.23432643C>G | CA485626400 | MYH7 | c.498G>C (p.Leu166=) n.604G>C | |
| 14 | g.23432643C>T | CA485626401 | MYH7 | c.498G>A (p.Leu166=) n.604G>A | gnomAD v4 |
| 14 | g.23432644A= | CA2123453964 | MYH7 | c.497T= (p.Leu166=) n.603T= | |
| 14 | g.23432644A>C | CA389052692 | MYH7 | c.497T>G (p.Leu166Arg) n.603T>G | ClinVar dbSNP |
| 14 | g.23432644A>G | CA389052693 | MYH7 | c.497T>C (p.Leu166Pro) n.603T>C | |
| 14 | g.23432644A>T | CA389052694 | MYH7 | c.497T>A (p.Leu166Gln) n.603T>A | |
| 14 | g.23432645G>A | CA485626402 | MYH7 | c.496C>T (p.Leu166=) n.602C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432645G>C | CA389052695 | MYH7 | c.496C>G (p.Leu166Val) n.602C>G | |
| 14 | g.23432645G= | CA2123453970 | MYH7 | c.496C= (p.Leu166=) n.602C= | |
| 14 | g.23432645G>T | CA389052696 | MYH7 | c.496C>A (p.Leu166Met) n.602C>A | |
| 14 | g.23432646C>A | CA389052699 | MYH7 | c.495G>T (p.Met165Ile) n.601G>T | ClinVar dbSNP |
| 14 | g.23432646C= | CA2123453976 | MYH7 | c.495G= (p.Met165=) n.601G= | |
| 14 | g.23432646C>G | CA389052698 | MYH7 | c.495G>C (p.Met165Ile) n.601G>C | ClinVar dbSNP |
| 14 | g.23432646C>T | CA389052697 | MYH7 | c.495G>A (p.Met165Ile) n.601G>A | ClinVar dbSNP |
| 14 | g.23432647A= | CA2123453982 | MYH7 | c.494T= (p.Met165=) n.600T= | |
| 14 | g.23432647A>C | CA389052700 | MYH7 | c.494T>G (p.Met165Arg) n.600T>G | ClinVar dbSNP |
| 14 | g.23432647A>G | CA389052701 | MYH7 | c.494T>C (p.Met165Thr) n.600T>C | ClinVar dbSNP |
| 14 | g.23432647A>T | CA015481 | MYH7 | c.494T>A (p.Met165Lys) n.600T>A | ClinVar dbSNP |
| 14 | g.23432648T>A | CA389052702 | MYH7 | c.493A>T (p.Met165Leu) n.599A>T | |
| 14 | g.23432648T>C | CA015475 | MYH7 | c.493A>G (p.Met165Val) n.599A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432648T>G | CA389052703 | MYH7 | c.493A>C (p.Met165Leu) n.599A>C | |
| 14 | g.23432648T= | CA2123453991 | MYH7 | c.493A= (p.Met165=) n.599A= | |
| 14 | g.23432649G>A | CA485626403 | MYH7 | c.492C>T (p.Tyr164=) n.598C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432649G>C | CA389052705 | MYH7 | c.492C>G (p.Tyr164Ter) n.598C>G | |
| 14 | g.23432649G= | CA2123453994 | MYH7 | c.492C= (p.Tyr164=) n.598C= | |
| 14 | g.23432649G>T | CA389052704 | MYH7 | c.492C>A (p.Tyr164Ter) n.598C>A | |
| 14 | g.23432650T>A | CA389052706 | MYH7 | c.491A>T (p.Tyr164Phe) n.597A>T | |
| 14 | g.23432650T>C | CA389052707 | MYH7 | c.491A>G (p.Tyr164Cys) n.597A>G | ClinVar gnomAD v4 |
| 14 | g.23432650T>G | CA389052708 | MYH7 | c.491A>C (p.Tyr164Ser) n.597A>C | |
| 14 | g.23432651_23432653dup | CA916081719 | MYH7 | c.489_491dup (p.Tyr164Ter) n.595_597dup | ClinVar dbSNP |
| 14 | g.23432651A>C | CA389052709 | MYH7 | c.490T>G (p.Tyr164Asp) n.596T>G | |
| 14 | g.23432651A>G | CA389052710 | MYH7 | c.490T>C (p.Tyr164His) n.596T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432651A>T | CA389052711 | MYH7 | c.490T>A (p.Tyr164Asn) n.596T>A | |
| 14 | g.23432652C>A | CA389052712 | MYH7 | c.489G>T (p.Gln163His) n.595G>T | COSMIC |
| 14 | g.23432652C= | CA2123453998 | MYH7 | c.489G= (p.Gln163=) n.595G= | |
| 14 | g.23432652C>G | CA389052713 | MYH7 | c.489G>C (p.Gln163His) n.595G>C | |
| 14 | g.23432652C>T | CA044159 | MYH7 | c.489G>A (p.Gln163=) n.595G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432653T>A | CA389052714 | MYH7 | c.488A>T (p.Gln163Leu) n.594A>T | |
| 14 | g.23432653T>C | CA389052715 | MYH7 | c.488A>G (p.Gln163Arg) n.594A>G | |
| 14 | g.23432653T>G | CA389052716 | MYH7 | c.488A>C (p.Gln163Pro) n.594A>C | ClinVar gnomAD v4 |
| 14 | g.23432654G>A | CA015429 | MYH7 | c.487C>T (p.Gln163Ter) n.593C>T | ClinVar dbSNP |
| 14 | g.23432654G>C | CA389052717 | MYH7 | c.487C>G (p.Gln163Glu) n.593C>G | |
| 14 | g.23432654G= | CA2123454003 | MYH7 | c.487C= (p.Gln163=) n.593C= | |
| 14 | g.23432654G>T | CA389052718 | MYH7 | c.487C>A (p.Gln163Lys) n.593C>A | |
| 14 | g.23432655A>C | CA389052719 | MYH7 | c.486T>G (p.Tyr162Ter) n.592T>G | |
| 14 | g.23432655A>G | CA485626408 | MYH7 | c.486T>C (p.Tyr162=) n.592T>C | |
| 14 | g.23432655A>T | CA389052720 | MYH7 | c.486T>A (p.Tyr162Ter) n.592T>A | |
| 14 | g.23432656T>A | CA389052721 | MYH7 | c.485A>T (p.Tyr162Phe) n.591A>T | |
| 14 | g.23432656T>C | CA16042917 | MYH7 | c.485A>G (p.Tyr162Cys) n.591A>G | ClinVar dbSNP |
| 14 | g.23432656T>G | CA389052722 | MYH7 | c.485A>C (p.Tyr162Ser) n.591A>C | |
| 14 | g.23432656T= | CA2123454008 | MYH7 | c.485A= (p.Tyr162=) n.591A= | |
| 14 | g.23432657A= | CA2123454016 | MYH7 | c.484T= (p.Tyr162=) n.590T= | |
| 14 | g.23432657A>C | CA389052724 | MYH7 | c.484T>G (p.Tyr162Asp) n.590T>G | ClinVar dbSNP |
| 14 | g.23432657A>G | CA389052725 | MYH7 | c.484T>C (p.Tyr162His) n.590T>C | ClinVar gnomAD v4 |
| 14 | g.23432657A>T | CA389052723 | MYH7 | c.484T>A (p.Tyr162Asn) n.590T>A | |
| 14 | g.23432658G>A | CA485626409 | MYH7 | c.483C>T (p.Ala161=) n.589C>T | ClinVar dbSNP |
| 14 | g.23432658G>C | CA485626410 | MYH7 | c.483C>G (p.Ala161=) n.589C>G | |
| 14 | g.23432658G>T | CA485626411 | MYH7 | c.483C>A (p.Ala161=) n.589C>A | |
| 14 | g.23432659G>A | CA389052726 | MYH7 | c.482C>T (p.Ala161Val) n.588C>T | ClinVar dbSNP |
| 14 | g.23432659G>C | CA389052728 | MYH7 | c.482C>G (p.Ala161Gly) n.588C>G | |
| 14 | g.23432659G= | CA2123454025 | MYH7 | c.482C= (p.Ala161=) n.588C= | |
| 14 | g.23432659G>T | CA389052727 | MYH7 | c.482C>A (p.Ala161Asp) n.588C>A | |
| 14 | g.23432660C>A | CA389052729 | MYH7 | c.481G>T (p.Ala161Ser) n.587G>T | |
| 14 | g.23432660C= | CA2123454033 | MYH7 | c.481G= (p.Ala161=) n.587G= | |
| 14 | g.23432660C>G | CA389052730 | MYH7 | c.481G>C (p.Ala161Pro) n.587G>C | |
| 14 | g.23432660C>T | CA043930 | MYH7 | c.481G>A (p.Ala161Thr) n.587G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432661G>A | CA015335 | MYH7 | c.480C>T (p.Asn160=) n.586C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432661G>C | CA389052731 | MYH7 | c.480C>G (p.Asn160Lys) n.586C>G | |
| 14 | g.23432661G= | CA2123454038 | MYH7 | c.480C= (p.Asn160=) n.586C= | |
| 14 | g.23432661G>T | CA389052732 | MYH7 | c.480C>A (p.Asn160Lys) n.586C>A | |
| 14 | g.23432662T>A | CA389052733 | MYH7 | c.479A>T (p.Asn160Ile) n.585A>T | |
| 14 | g.23432662T>C | CA389052734 | MYH7 | c.479A>G (p.Asn160Ser) n.585A>G | |
| 14 | g.23432662T>G | CA389052735 | MYH7 | c.479A>C (p.Asn160Thr) n.585A>C | |
| 14 | g.23432663T>A | CA389052736 | MYH7 | c.478A>T (p.Asn160Tyr) n.584A>T | |
| 14 | g.23432663T>C | CA389052737 | MYH7 | c.478A>G (p.Asn160Asp) n.584A>G | |
| 14 | g.23432663T>G | CA389052738 | MYH7 | c.478A>C (p.Asn160His) n.584A>C | |
| 14 | g.23432664G>A | CA485626415 | MYH7 | c.477C>T (p.Asp159=) n.583C>T | |
| 14 | g.23432664G>C | CA389052739 | MYH7 | c.477C>G (p.Asp159Glu) n.583C>G | |
| 14 | g.23432664G>T | CA389052740 | MYH7 | c.477C>A (p.Asp159Glu) n.583C>A | |
| 14 | g.23432665T>A | CA389052741 | MYH7 | c.476A>T (p.Asp159Val) n.582A>T | |
| 14 | g.23432665T>C | CA389052742 | MYH7 | c.476A>G (p.Asp159Gly) n.582A>G | |
| 14 | g.23432665T>G | CA389052743 | MYH7 | c.476A>C (p.Asp159Ala) n.582A>C | |
| 14 | g.23432666C>A | CA389052745 | MYH7 | c.475G>T (p.Asp159Tyr) n.581G>T | |
| 14 | g.23432666C= | CA2123454044 | MYH7 | c.475G= (p.Asp159=) n.581G= | |
| 14 | g.23432666C>G | CA015284 | MYH7 | c.475G>C (p.Asp159His) n.581G>C | ClinVar dbSNP |
| 14 | g.23432666C>T | CA389052744 | MYH7 | c.475G>A (p.Asp159Asn) n.581G>A | ClinVar dbSNP |
| 14 | g.23432667G>A | CA015274 | MYH7 | c.474C>T (p.Ser158=) n.580C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432667G>C | CA043748 | MYH7 | c.474C>G (p.Ser158=) n.580C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432667G= | CA2123454054 | MYH7 | c.474C= (p.Ser158=) n.580C= | |
| 14 | g.23432667G>T | CA485626416 | MYH7 | c.474C>A (p.Ser158=) n.580C>A | |
| 14 | g.23432668del | CA2580088033 | MYH7 | c.474del (p.Asp159ThrfsTer8) n.580del | ClinVar |
| 14 | g.23432668G>A | CA389052746 | MYH7 | c.473C>T (p.Ser158Phe) n.579C>T | |
| 14 | g.23432668G>C | CA389052747 | MYH7 | c.473C>G (p.Ser158Cys) n.579C>G | |
| 14 | g.23432668G>T | CA389052748 | MYH7 | c.473C>A (p.Ser158Tyr) n.579C>A | |
| 14 | g.23432669A>C | CA389052749 | MYH7 | c.472T>G (p.Ser158Ala) n.578T>G | ClinVar |
| 14 | g.23432669A>G | CA389052750 | MYH7 | c.472T>C (p.Ser158Pro) n.578T>C | |
| 14 | g.23432669A>T | CA389052751 | MYH7 | c.472T>A (p.Ser158Thr) n.578T>A | |
| 14 | g.23432670G>A | CA485626417 | MYH7 | c.471C>T (p.Ile157=) n.577C>T | gnomAD v4 |
| 14 | g.23432670G>C | CA389052752 | MYH7 | c.471C>G (p.Ile157Met) n.577C>G | |
| 14 | g.23432670G>T | CA485626420 | MYH7 | c.471C>A (p.Ile157=) n.577C>A | |
| 14 | g.23432671A>C | CA389052753 | MYH7 | c.470T>G (p.Ile157Ser) n.576T>G | |
| 14 | g.23432671A>G | CA389052754 | MYH7 | c.470T>C (p.Ile157Thr) n.576T>C | |
| 14 | g.23432671A>T | CA389052755 | MYH7 | c.470T>A (p.Ile157Asn) n.576T>A | |
| 14 | g.23432672T>A | CA389052756 | MYH7 | c.469A>T (p.Ile157Phe) n.575A>T | gnomAD v4 |
| 14 | g.23432672T>C | CA389052757 | MYH7 | c.469A>G (p.Ile157Val) n.575A>G | gnomAD v4 |
| 14 | g.23432672T>G | CA389052758 | MYH7 | c.469A>C (p.Ile157Leu) n.575A>C | gnomAD v4 |
| 14 | g.23432673G>A | CA485626425 | MYH7 | c.468C>T (p.Ser156=) n.574C>T | COSMIC |
| 14 | g.23432673G>C | CA485626423 | MYH7 | c.468C>G (p.Ser156=) n.574C>G | gnomAD v4 |
| 14 | g.23432673G>T | CA485626422 | MYH7 | c.468C>A (p.Ser156=) n.574C>A | |
| 14 | g.23432674G>A | CA389052760 | MYH7 | c.467C>T (p.Ser156Phe) n.573C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432674G>C | CA389052761 | MYH7 | c.467C>G (p.Ser156Cys) n.573C>G | gnomAD v4 |
| 14 | g.23432674G= | CA2123454058 | MYH7 | c.467C= (p.Ser156=) n.573C= | |
| 14 | g.23432674G>T | CA389052759 | MYH7 | c.467C>A (p.Ser156Tyr) n.573C>A | |
| 14 | g.23432675A>C | CA389052762 | MYH7 | c.466T>G (p.Ser156Ala) n.572T>G | |
| 14 | g.23432675A>G | CA389052763 | MYH7 | c.466T>C (p.Ser156Pro) n.572T>C | |
| 14 | g.23432675A>T | CA389052764 | MYH7 | c.466T>A (p.Ser156Thr) n.572T>A | |
| 14 | g.23432678_23432680del | CA2580616568 | MYH7 | c.464_466del (p.Phe155del) n.570_572del | ClinVar |
| 14 | g.23432676G>A | CA485626429 | MYH7 | c.465C>T (p.Phe155=) n.571C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432676G>C | CA389052765 | MYH7 | c.465C>G (p.Phe155Leu) n.571C>G | |
| 14 | g.23432676G= | CA2123454066 | MYH7 | c.465C= (p.Phe155=) n.571C= | |
| 14 | g.23432676G>T | CA043424 | MYH7 | c.465C>A (p.Phe155Leu) n.571C>A | dbSNP ExAC gnomAD v4 |
| 14 | g.23432677A>C | CA389052766 | MYH7 | c.464T>G (p.Phe155Cys) n.570T>G | |
| 14 | g.23432677A>G | CA389052767 | MYH7 | c.464T>C (p.Phe155Ser) n.570T>C | |
| 14 | g.23432677A>T | CA389052768 | MYH7 | c.464T>A (p.Phe155Tyr) n.570T>A | |
| 14 | g.23432678A>C | CA389052769 | MYH7 | c.463T>G (p.Phe155Val) n.569T>G | |
| 14 | g.23432678A>G | CA389052770 | MYH7 | c.463T>C (p.Phe155Leu) n.569T>C | gnomAD v4 |
| 14 | g.23432678A>T | CA389052771 | MYH7 | c.463T>A (p.Phe155Ile) n.569T>A | |
| 14 | g.23432678_23432719del | CA2624252269 | MYH7 | c.422_463del (p.Ala141_Phe155delinsVal) n.528_569del | gnomAD v4 |
| 14 | g.23432679G>A | CA485626431 | MYH7 | c.462C>T (p.Ile154=) n.568C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23432679G>C | CA389052772 | MYH7 | c.462C>G (p.Ile154Met) n.568C>G | |
| 14 | g.23432679G= | CA2123454067 | MYH7 | c.462C= (p.Ile154=) n.568C= | |
| 14 | g.23432679G>T | CA485626432 | MYH7 | c.462C>A (p.Ile154=) n.568C>A | ClinVar dbSNP |
| 14 | g.23432680A= | CA2123454070 | MYH7 | c.461T= (p.Ile154=) n.567T= | |
| 14 | g.23432680A>C | CA389052774 | MYH7 | c.461T>G (p.Ile154Ser) n.567T>G | |
| 14 | g.23432680A>G | CA389052775 | MYH7 | c.461T>C (p.Ile154Thr) n.567T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432680A>T | CA389052773 | MYH7 | c.461T>A (p.Ile154Asn) n.567T>A | |
| 14 | g.23432681T>A | CA389052776 | MYH7 | c.460A>T (p.Ile154Phe) n.566A>T | |
| 14 | g.23432681T>C | CA015148 | MYH7 | c.460A>G (p.Ile154Val) n.566A>G | ClinVar dbSNP |
| 14 | g.23432681T>G | CA389052777 | MYH7 | c.460A>C (p.Ile154Leu) n.566A>C | |
| 14 | g.23432681T= | CA2123454078 | MYH7 | c.460A= (p.Ile154=) n.566A= | |
| 14 | g.23432682G>A | CA485626435 | MYH7 | c.459C>T (p.His153=) n.565C>T | |
| 14 | g.23432682G>C | CA389052778 | MYH7 | c.459C>G (p.His153Gln) n.565C>G | |
| 14 | g.23432682G>T | CA389052779 | MYH7 | c.459C>A (p.His153Gln) n.565C>A | |
| 14 | g.23432683T>A | CA389052782 | MYH7 | c.458A>T (p.His153Leu) n.564A>T | |
| 14 | g.23432683T>C | CA389052780 | MYH7 | c.458A>G (p.His153Arg) n.564A>G | |
| 14 | g.23432683T>G | CA389052781 | MYH7 | c.458A>C (p.His153Pro) n.564A>C | |
| 14 | g.23432683_23432684delinsTG | CA2123454083 | MYH7 | c.457_458delinsCA (p.His153=) n.563_564delinsCA | |
| 14 | g.23432684G>A | CA389052783 | MYH7 | c.457C>T (p.His153Tyr) n.563C>T | ClinVar |
| 14 | g.23432684G>C | CA389052784 | MYH7 | c.457C>G (p.His153Asp) n.563C>G | |
| 14 | g.23432684G>T | CA389052785 | MYH7 | c.457C>A (p.His153Asn) n.563C>A | |
| 14 | g.23432687del | CA015125 | MYH7 | c.457del (p.His153ThrfsTer14) n.563del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23432685G>A | CA485626440 | MYH7 | c.456C>T (p.Pro152=) n.562C>T | |
| 14 | g.23432685G>C | CA042929 | MYH7 | c.456C>G (p.Pro152=) n.562C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23432685G= | CA2123454091 | MYH7 | c.456C= (p.Pro152=) n.562C= | |
| 14 | g.23432685G>T | CA485626439 | MYH7 | c.456C>A (p.Pro152=) n.562C>A | |
| 14 | g.23432686G>A | CA389052786 | MYH7 | c.455C>T (p.Pro152Leu) n.561C>T | |
| 14 | g.23432686G>C | CA389052788 | MYH7 | c.455C>G (p.Pro152Arg) n.561C>G | |
| 14 | g.23432686G>T | CA389052787 | MYH7 | c.455C>A (p.Pro152His) n.561C>A | |
| 14 | g.23432687G>A | CA389052789 | MYH7 | c.454C>T (p.Pro152Ser) n.560C>T | gnomAD v4 |
| 14 | g.23432687G>C | CA389052791 | MYH7 | c.454C>G (p.Pro152Ala) n.560C>G | |
| 14 | g.23432687G>T | CA389052790 | MYH7 | c.454C>A (p.Pro152Thr) n.560C>A | |
| 14 | g.23432688C>A | CA042837 | MYH7 | c.453G>T (p.Pro151=) n.559G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432688C= | CA2123454099 | MYH7 | c.453G= (p.Pro151=) n.559G= | |
| 14 | g.23432688C>G | CA485626444 | MYH7 | c.453G>C (p.Pro151=) n.559G>C | |
| 14 | g.23432688C>T | CA042823 | MYH7 | c.453G>A (p.Pro151=) n.559G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432689G>A | CA015084 | MYH7 | c.452C>T (p.Pro151Leu) n.558C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432689G>C | CA389052792 | MYH7 | c.452C>G (p.Pro151Arg) n.558C>G | |
| 14 | g.23432689G= | CA2123454108 | MYH7 | c.452C= (p.Pro151=) n.558C= | |
| 14 | g.23432689G>T | CA389052793 | MYH7 | c.452C>A (p.Pro151Gln) n.558C>A | |
| 14 | g.23432690G>A | CA389052794 | MYH7 | c.451C>T (p.Pro151Ser) n.557C>T | ClinVar |
| 14 | g.23432690G>C | CA389052795 | MYH7 | c.451C>G (p.Pro151Ala) n.557C>G | |
| 14 | g.23432690G>T | CA389052796 | MYH7 | c.451C>A (p.Pro151Thr) n.557C>A | gnomAD v4 |
| 14 | g.23432691G>A | CA042471 | MYH7 | c.450C>T (p.Ala150=) n.556C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432691G>C | CA485626447 | MYH7 | c.450C>G (p.Ala150=) n.556C>G | |
| 14 | g.23432691G= | CA2123454114 | MYH7 | c.450C= (p.Ala150=) n.556C= | |
| 14 | g.23432691G>T | CA485626448 | MYH7 | c.450C>A (p.Ala150=) n.556C>A | |
| 14 | g.23432692G>A | CA389052797 | MYH7 | c.449C>T (p.Ala150Val) n.555C>T | gnomAD v4 |
| 14 | g.23432692G>C | CA10645076 | MYH7 | c.449C>G (p.Ala150Gly) n.555C>G | ClinVar dbSNP |
| 14 | g.23432692G= | CA2123454120 | MYH7 | c.449C= (p.Ala150=) n.555C= | |
| 14 | g.23432692G>T | CA389052798 | MYH7 | c.449C>A (p.Ala150Asp) n.555C>A | gnomAD v4 |
| 14 | g.23432693C>A | CA389052801 | MYH7 | c.448G>T (p.Ala150Ser) n.554G>T | |
| 14 | g.23432693C= | CA2123454125 | MYH7 | c.448G= (p.Ala150=) n.554G= | |
| 14 | g.23432693C>G | CA389052799 | MYH7 | c.448G>C (p.Ala150Pro) n.554G>C | |
| 14 | g.23432693C>T | CA389052800 | MYH7 | c.448G>A (p.Ala150Thr) n.554G>A | ClinVar dbSNP |
| 14 | g.23432694C>A | CA389052802 | MYH7 | c.447G>T (p.Glu149Asp) n.553G>T | |
| 14 | g.23432694C= | CA2123454130 | MYH7 | c.447G= (p.Glu149=) n.553G= | |
| 14 | g.23432694C>G | CA389052803 | MYH7 | c.447G>C (p.Glu149Asp) n.553G>C | |
| 14 | g.23432694C>T | CA485626450 | MYH7 | c.447G>A (p.Glu149=) n.553G>A | ClinVar dbSNP |
| 14 | g.23432695T>A | CA389052804 | MYH7 | c.446A>T (p.Glu149Val) n.552A>T | |
| 14 | g.23432695T>C | CA389052805 | MYH7 | c.446A>G (p.Glu149Gly) n.552A>G | |
| 14 | g.23432695T>G | CA389052806 | MYH7 | c.446A>C (p.Glu149Ala) n.552A>C | |
| 14 | g.23432696C>A | CA389052807 | MYH7 | c.445G>T (p.Glu149Ter) n.551G>T | |
| 14 | g.23432696C= | CA2123454139 | MYH7 | c.445G= (p.Glu149=) n.551G= | |
| 14 | g.23432696C>G | CA389052808 | MYH7 | c.445G>C (p.Glu149Gln) n.551G>C | |
| 14 | g.23432696C>T | CA042340 | MYH7 | c.445G>A (p.Glu149Lys) n.551G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432697G>A | CA042293 | MYH7 | c.444C>T (p.Ser148=) n.550C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23432697G>C | CA16606540 | MYH7 | c.444C>G (p.Ser148Arg) n.550C>G | ClinVar dbSNP |
| 14 | g.23432697G= | CA2123454144 | MYH7 | c.444C= (p.Ser148=) n.550C= | |
| 14 | g.23432697G>T | CA389052809 | MYH7 | c.444C>A (p.Ser148Arg) n.550C>A | ClinVar dbSNP |
| 14 | g.23432698C>A | CA042268 | MYH7 | c.443G>T (p.Ser148Ile) n.549G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432698C= | CA2123454152 | MYH7 | c.443G= (p.Ser148=) n.549G= | |
| 14 | g.23432698C>G | CA389052811 | MYH7 | c.443G>C (p.Ser148Thr) n.549G>C | |
| 14 | g.23432698C>T | CA389052810 | MYH7 | c.443G>A (p.Ser148Asn) n.549G>A | COSMIC |
| 14 | g.23432699T>A | CA389052812 | MYH7 | c.442A>T (p.Ser148Cys) n.548A>T | |
| 14 | g.23432699T>C | CA042238 | MYH7 | c.442A>G (p.Ser148Gly) n.548A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23432699T>G | CA014971 | MYH7 | c.442A>C (p.Ser148Arg) n.548A>C | ClinVar dbSNP |
| 14 | g.23432699T= | CA2123454158 | MYH7 | c.442A= (p.Ser148=) n.548A= | |
| 14 | g.23432700C>A | CA389052813 | MYH7 | c.441G>T (p.Arg147Ser) n.547G>T | |
| 14 | g.23432700C= | CA2123454167 | MYH7 | c.441G= (p.Arg147=) n.547G= | |
| 14 | g.23432700C>G | CA389052814 | MYH7 | c.441G>C (p.Arg147Ser) n.547G>C | ClinVar dbSNP |
| 14 | g.23432700C>T | CA485626457 | MYH7 | c.441G>A (p.Arg147=) n.547G>A | |
| 14 | g.23432701C>A | CA389052815 | MYH7 | c.440G>T (p.Arg147Met) n.546G>T | |
| 14 | g.23432701C= | CA2123454170 | MYH7 | c.440G= (p.Arg147=) n.546G= | |
| 14 | g.23432701C>G | CA389052816 | MYH7 | c.440G>C (p.Arg147Thr) n.546G>C | |
| 14 | g.23432701C>T | CA389052817 | MYH7 | c.440G>A (p.Arg147Lys) n.546G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432702T>A | CA389052818 | MYH7 | c.439A>T (p.Arg147Trp) n.545A>T | |
| 14 | g.23432702T>C | CA389052819 | MYH7 | c.439A>G (p.Arg147Gly) n.545A>G | ClinVar |
| 14 | g.23432702T>G | CA485626461 | MYH7 | c.439A>C (p.Arg147=) n.545A>C | |
| 14 | g.23432703C>A | CA014924 | MYH7 | c.438G>T (p.Lys146Asn) n.544G>T | ClinVar dbSNP |
| 14 | g.23432703C= | CA2123454176 | MYH7 | c.438G= (p.Lys146=) n.544G= | |
| 14 | g.23432703C>G | CA389052820 | MYH7 | c.438G>C (p.Lys146Asn) n.544G>C | gnomAD v4 |
| 14 | g.23432703C>T | CA16606543 | MYH7 | c.438G>A (p.Lys146=) n.544G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23432704T>A | CA014914 | MYH7 | c.437A>T (p.Lys146Met) n.543A>T | dbSNP |
| 14 | g.23432704T>C | CA389052821 | MYH7 | c.437A>G (p.Lys146Arg) n.543A>G | |
| 14 | g.23432704T>G | CA014910 | MYH7 | c.437A>C (p.Lys146Thr) n.543A>C | dbSNP |
| 14 | g.23432704T= | CA2123454188 | MYH7 | c.437A= (p.Lys146=) n.543A= | |
| 14 | g.23432705T>A | CA389052822 | MYH7 | c.436A>T (p.Lys146Ter) n.542A>T | |
| 14 | g.23432705T>C | CA389052823 | MYH7 | c.436A>G (p.Lys146Glu) n.542A>G | |
| 14 | g.23432705T>G | CA389052824 | MYH7 | c.436A>C (p.Lys146Gln) n.542A>C | |
| 14 | g.23432706C>A | CA389052825 | MYH7 | c.435G>T (p.Lys145Asn) n.541G>T | |
| 14 | g.23432706C>G | CA389052826 | MYH7 | c.435G>C (p.Lys145Asn) n.541G>C | |
| 14 | g.23432706C>T | CA485626465 | MYH7 | c.435G>A (p.Lys145=) n.541G>A |