| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23433503G>A | CA613318128 | MYH7 | c.201+29C>T (n.201+29C>T) n.307+29C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23433503G= | CA2123455630 | MYH7 | c.201+29C= (n.201+29C=) n.307+29C= | |
| 14 | g.23433504del | CA2624254031 | MYH7 | c.201+28del (n.201+28del) n.307+28del | gnomAD v4 |
| 14 | g.23433504T>C | CA2624254032 | MYH7 | c.201+28A>G (n.201+28A>G) n.307+28A>G | gnomAD v4 |
| 14 | g.23433505G>A | CA2123455632 | MYH7 | c.201+27C>T (n.201+27C>T) n.307+27C>T | dbSNP gnomAD v4 |
| 14 | g.23433505G= | CA2123455631 | MYH7 | c.201+27C= (n.201+27C=) n.307+27C= | |
| 14 | g.23433506G>A | CA030671 | MYH7 | c.201+26C>T (n.201+26C>T) n.307+26C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23433506G= | CA2123455633 | MYH7 | c.201+26C= (n.201+26C=) n.307+26C= | |
| 14 | g.23433506G>T | CA2624254054 | MYH7 | c.201+26C>A (n.201+26C>A) n.307+26C>A | gnomAD v4 |
| 14 | g.23433506_23433539delinsAGTC | CA2580088037 | MYH7 | c.194_201+26delinsGACT n.300_307+26delinsGACT | ClinVar |
| 14 | g.23433507A= | CA2123455636 | MYH7 | c.201+25T= (n.201+25T=) n.307+25T= | |
| 14 | g.23433507A>C | CA961071009 | MYH7 | c.201+25T>G (n.201+25T>G) n.307+25T>G | gnomAD v3 gnomAD v4 |
| 14 | g.23433507A>G | CA257826845 | MYH7 | c.201+25T>C (n.201+25T>C) n.307+25T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23433511_23433512del | CA2624254060 | MYH7 | c.201+23_201+24del (n.201+23_201+24del) n.307+23_307+24del | gnomAD v4 |
| 14 | g.23433511T>A | CA2624254061 | MYH7 | c.201+21A>T (n.201+21A>T) n.307+21A>T | gnomAD v4 |
| 14 | g.23433511T>C | CA2624254062 | MYH7 | c.201+21A>G (n.201+21A>G) n.307+21A>G | gnomAD v4 |
| 14 | g.23433512C>T | CA2624254082 | MYH7 | c.201+20G>A (n.201+20G>A) n.307+20G>A | gnomAD v4 |
| 14 | g.23433513A>G | CA2624254090 | MYH7 | c.201+19T>C (n.201+19T>C) n.307+19T>C | gnomAD v4 |
| 14 | g.23433514C>G | CA2580088038 | MYH7 | c.201+18G>C (n.201+18G>C) n.307+18G>C | ClinVar |
| 14 | g.23433514C>T | CA2624254092 | MYH7 | c.201+18G>A (n.201+18G>A) n.307+18G>A | gnomAD v4 |
| 14 | g.23433516T>C | CA257826849 | MYH7 | c.201+16A>G (n.201+16A>G) n.307+16A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23433516T= | CA2123455639 | MYH7 | c.201+16A= (n.201+16A=) n.307+16A= | |
| 14 | g.23433517C>A | CA2575487069 | MYH7 | c.201+15G>T (n.201+15G>T) n.307+15G>T | |
| 14 | g.23433519G>A | CA030663 | MYH7 | c.201+13C>T (n.201+13C>T) n.307+13C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23433519G= | CA2123455643 | MYH7 | c.201+13C= (n.201+13C=) n.307+13C= | |
| 14 | g.23433520C= | CA2123455649 | MYH7 | c.201+12G= (n.201+12G=) n.307+12G= | |
| 14 | g.23433520C>T | CA2123455647 | MYH7 | c.201+12G>A (n.201+12G>A) n.307+12G>A | dbSNP gnomAD v4 |
| 14 | g.23433521C= | CA2123455652 | MYH7 | c.201+11G= (n.201+11G=) n.307+11G= | |
| 14 | g.23433521C>T | CA2123455655 | MYH7 | c.201+11G>A (n.201+11G>A) n.307+11G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23433523G>C | CA2575487070 | MYH7 | c.201+9C>G (n.201+9C>G) n.307+9C>G | |
| 14 | g.23433523G>T | CA2624254104 | MYH7 | c.201+9C>A (n.201+9C>A) n.307+9C>A | gnomAD v4 |
| 14 | g.23433524A= | CA2123455658 | MYH7 | c.201+8T= (n.201+8T=) n.307+8T= | |
| 14 | g.23433524A>T | CA704270764 | MYH7 | c.201+8T>A (n.201+8T>A) n.307+8T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23433525del | CA2624254106 | MYH7 | c.201+7del (n.201+7del) n.307+7del | gnomAD v4 |
| 14 | g.23433526A>T | CA2624254107 | MYH7 | c.201+6T>A (n.201+6T>A) n.307+6T>A | gnomAD v4 |
| 14 | g.23433527C>T | CA645596433 | MYH7 | c.201+5G>A (n.201+5G>A) n.307+5G>A | COSMIC |
| 14 | g.23433528C>A | CA030738 | MYH7 | c.201+4G>T (n.201+4G>T) n.307+4G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23433528C= | CA2123455664 | MYH7 | c.201+4G= (n.201+4G=) n.307+4G= | |
| 14 | g.23433528C>G | CA613318129 | MYH7 | c.201+4G>C (n.201+4G>C) n.307+4G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23433528C>T | CA613318130 | MYH7 | c.201+4G>A (n.201+4G>A) n.307+4G>A | ClinVar dbSNP gnomAD v2 |
| 14 | g.23433529C= | CA2123455669 | MYH7 | c.201+3G= (n.201+3G=) n.307+3G= | |
| 14 | g.23433529C>G | CA2624254115 | MYH7 | c.201+3G>C (n.201+3G>C) n.307+3G>C | gnomAD v4 |
| 14 | g.23433529C>T | CA613318131 | MYH7 | c.201+3G>A (n.201+3G>A) n.307+3G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23433530A= | CA2123455673 | MYH7 | c.201+2T= (n.201+2T=) n.307+2T= | |
| 14 | g.23433530A>C | CA389053566 | MYH7 | c.201+2T>G (n.201+2T>G) n.307+2T>G | dbSNP |
| 14 | g.23433530A>G | CA389053568 | MYH7 | c.201+2T>C (n.201+2T>C) n.307+2T>C | ClinVar dbSNP |
| 14 | g.23433530A>T | CA389053570 | MYH7 | c.201+2T>A (n.201+2T>A) n.307+2T>A | |
| 14 | g.23433530_23433531delinsAC | CA2123455675 | MYH7 | c.201+1_201+2delinsGT (n.201+1_201+2delinsGT) n.307+1_307+2delinsGT | |
| 14 | g.23433531C>A | CA389053572 | MYH7 | c.201+1G>T (n.201+1G>T) n.307+1G>T | |
| 14 | g.23433531C= | CA2123455680 | MYH7 | c.201+1G= (n.201+1G=) n.307+1G= | |
| 14 | g.23433531C>G | CA257826860 | MYH7 | c.201+1G>C (n.201+1G>C) n.307+1G>C | dbSNP |
| 14 | g.23433531C>T | CA257826857 | MYH7 | c.201+1G>A (n.201+1G>A) n.307+1G>A | dbSNP |
| 14 | g.23433532del | CA2123455684 | MYH7 | c.201+1del n.307+1del | dbSNP gnomAD v4 |
| 14 | g.23433532C>A | CA389053574 | MYH7 | c.201G>T (p.Lys67Asn) n.307G>T | COSMIC |
| 14 | g.23433532C>G | CA389053576 | MYH7 | c.201G>C (p.Lys67Asn) n.307G>C | |
| 14 | g.23433532C>T | CA485627094 | MYH7 | c.201G>A (p.Lys67=) n.307G>A | |
| 14 | g.23433533T>A | CA389053577 | MYH7 | c.200A>T (p.Lys67Met) n.306A>T | |
| 14 | g.23433533T>C | CA389053578 | MYH7 | c.200A>G (p.Lys67Arg) n.306A>G | ClinVar gnomAD v4 |
| 14 | g.23433533T>G | CA389053579 | MYH7 | c.200A>C (p.Lys67Thr) n.306A>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433534T>A | CA389053581 | MYH7 | c.199A>T (p.Lys67Ter) n.305A>T | |
| 14 | g.23433534T>C | CA389053584 | MYH7 | c.199A>G (p.Lys67Glu) n.305A>G | |
| 14 | g.23433534T>G | CA389053583 | MYH7 | c.199A>C (p.Lys67Gln) n.305A>C | |
| 14 | g.23433535G>A | CA485627095 | MYH7 | c.198C>T (p.Gly66=) n.304C>T | gnomAD v4 |
| 14 | g.23433535G>C | CA485627096 | MYH7 | c.198C>G (p.Gly66=) n.304C>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433535G= | CA2123455690 | MYH7 | c.198C= (p.Gly66=) n.304C= | |
| 14 | g.23433535G>T | CA485627097 | MYH7 | c.198C>A (p.Gly66=) n.304C>A | dbSNP |
| 14 | g.23433536C>A | CA389053587 | MYH7 | c.197G>T (p.Gly66Val) n.303G>T | |
| 14 | g.23433536C= | CA2123455696 | MYH7 | c.197G= (p.Gly66=) n.303G= | |
| 14 | g.23433536C>G | CA389053590 | MYH7 | c.197G>C (p.Gly66Ala) n.303G>C | |
| 14 | g.23433536C>T | CA389053588 | MYH7 | c.197G>A (p.Gly66Asp) n.303G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433537C>A | CA389053591 | MYH7 | c.196G>T (p.Gly66Cys) n.302G>T | gnomAD v4 |
| 14 | g.23433537C>G | CA389053595 | MYH7 | c.196G>C (p.Gly66Arg) n.302G>C | |
| 14 | g.23433537C>T | CA389053593 | MYH7 | c.196G>A (p.Gly66Ser) n.302G>A | ClinVar |
| 14 | g.23433538A= | CA2123455709 | MYH7 | c.195T= (p.Tyr65=) n.301T= | |
| 14 | g.23433538A>C | CA389053596 | MYH7 | c.195T>G (p.Tyr65Ter) n.301T>G | ClinVar dbSNP |
| 14 | g.23433538A>G | CA257826864 | MYH7 | c.195T>C (p.Tyr65=) n.301T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23433538A>T | CA389053598 | MYH7 | c.195T>A (p.Tyr65Ter) n.301T>A | |
| 14 | g.23433539T>A | CA389053600 | MYH7 | c.194A>T (p.Tyr65Phe) n.300A>T | |
| 14 | g.23433539T>C | CA389053601 | MYH7 | c.194A>G (p.Tyr65Cys) n.300A>G | ClinVar gnomAD v4 |
| 14 | g.23433539T>G | CA389053602 | MYH7 | c.194A>C (p.Tyr65Ser) n.300A>C | |
| 14 | g.23433540A>C | CA389053604 | MYH7 | c.193T>G (p.Tyr65Asp) n.299T>G | |
| 14 | g.23433540A>G | CA389053606 | MYH7 | c.193T>C (p.Tyr65His) n.299T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433540A>T | CA389053607 | MYH7 | c.193T>A (p.Tyr65Asn) n.299T>A | |
| 14 | g.23433541C>A | CA389053609 | MYH7 | c.192G>T (p.Glu64Asp) n.298G>T | |
| 14 | g.23433541C>G | CA389053610 | MYH7 | c.192G>C (p.Glu64Asp) n.298G>C | |
| 14 | g.23433541C>T | CA485627098 | MYH7 | c.192G>A (p.Glu64=) n.298G>A | ClinVar gnomAD v4 |
| 14 | g.23433542T>A | CA389053612 | MYH7 | c.191A>T (p.Glu64Val) n.297A>T | gnomAD v4 |
| 14 | g.23433542T>C | CA389053614 | MYH7 | c.191A>G (p.Glu64Gly) n.297A>G | |
| 14 | g.23433542T>G | CA389053615 | MYH7 | c.191A>C (p.Glu64Ala) n.297A>C | |
| 14 | g.23433543C>A | CA389053620 | MYH7 | c.190G>T (p.Glu64Ter) n.296G>T | gnomAD v4 |
| 14 | g.23433543C= | CA2123455715 | MYH7 | c.190G= (p.Glu64=) n.296G= | |
| 14 | g.23433543C>G | CA389053617 | MYH7 | c.190G>C (p.Glu64Gln) n.296G>C | |
| 14 | g.23433543C>T | CA389053618 | MYH7 | c.190G>A (p.Glu64Lys) n.296G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433543_23433544del | CA2624254157 | MYH7 | c.189_190del (p.Glu64ValfsTer?) n.295_296del | gnomAD v4 |
| 14 | g.23433544G>A | CA011440 | MYH7 | c.189C>T (p.Thr63=) n.295C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23433544G>C | CA485627099 | MYH7 | c.189C>G (p.Thr63=) n.295C>G | |
| 14 | g.23433544G= | CA180572 | MYH7 | c.189C= (p.Thr63=) n.295C= | |
| 14 | g.23433544G>T | CA485627100 | MYH7 | c.189C>A (p.Thr63=) n.295C>A | |
| 14 | g.23433544_23433546del | CA2624254159 | MYH7 | c.187_189del (p.Thr63del) n.293_295del | gnomAD v4 |
| 14 | g.23433545G>A | CA389053622 | MYH7 | c.188C>T (p.Thr63Ile) n.294C>T | |
| 14 | g.23433545G>C | CA389053623 | MYH7 | c.188C>G (p.Thr63Ser) n.294C>G | |
| 14 | g.23433545G>T | CA389053625 | MYH7 | c.188C>A (p.Thr63Asn) n.294C>A | |
| 14 | g.23433546T>A | CA389053629 | MYH7 | c.187A>T (p.Thr63Ser) n.293A>T | |
| 14 | g.23433546T>C | CA389053630 | MYH7 | c.187A>G (p.Thr63Ala) n.293A>G | |
| 14 | g.23433546T>G | CA389053631 | MYH7 | c.187A>C (p.Thr63Pro) n.293A>C | |
| 14 | g.23433547C>A | CA389053633 | MYH7 | c.186G>T (p.Glu62Asp) n.292G>T | |
| 14 | g.23433547C= | CA2123455724 | MYH7 | c.186G= (p.Glu62=) n.292G= | |
| 14 | g.23433547C>G | CA389053634 | MYH7 | c.186G>C (p.Glu62Asp) n.292G>C | ClinVar |
| 14 | g.23433547C>T | CA485627101 | MYH7 | c.186G>A (p.Glu62=) n.292G>A | ClinVar dbSNP |
| 14 | g.23433548T>A | CA389053638 | MYH7 | c.185A>T (p.Glu62Val) n.291A>T | |
| 14 | g.23433548T>C | CA389053639 | MYH7 | c.185A>G (p.Glu62Gly) n.291A>G | |
| 14 | g.23433548T>G | CA389053636 | MYH7 | c.185A>C (p.Glu62Ala) n.291A>C | |
| 14 | g.23433549C>A | CA389053641 | MYH7 | c.184G>T (p.Glu62Ter) n.290G>T | |
| 14 | g.23433549C= | CA2123455728 | MYH7 | c.184G= (p.Glu62=) n.290G= | |
| 14 | g.23433549C>G | CA389053643 | MYH7 | c.184G>C (p.Glu62Gln) n.290G>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433549C>T | CA011346 | MYH7 | c.184G>A (p.Glu62Lys) n.290G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23433550G>A | CA16614435 | MYH7 | c.183C>T (p.Ala61=) n.289C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23433550G>C | CA029433 | MYH7 | c.183C>G (p.Ala61=) n.289C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23433550G= | CA2123455738 | MYH7 | c.183C= (p.Ala61=) n.289C= | |
| 14 | g.23433550G>T | CA485627102 | MYH7 | c.183C>A (p.Ala61=) n.289C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23433551G>A | CA389053649 | MYH7 | c.182C>T (p.Ala61Val) n.288C>T | |
| 14 | g.23433551G>C | CA389053648 | MYH7 | c.182C>G (p.Ala61Gly) n.288C>G | |
| 14 | g.23433551G>T | CA389053646 | MYH7 | c.182C>A (p.Ala61Asp) n.288C>A | |
| 14 | g.23433552C>A | CA389053650 | MYH7 | c.181G>T (p.Ala61Ser) n.287G>T | |
| 14 | g.23433552C>G | CA389053651 | MYH7 | c.181G>C (p.Ala61Pro) n.287G>C | ClinVar |
| 14 | g.23433552C>T | CA389053652 | MYH7 | c.181G>A (p.Ala61Thr) n.287G>A | |
| 14 | g.23433553A>C | CA485627104 | MYH7 | c.180T>G (p.Thr60=) n.286T>G | |
| 14 | g.23433553A>G | CA485627105 | MYH7 | c.180T>C (p.Thr60=) n.286T>C | ClinVar gnomAD v4 |
| 14 | g.23433553A>T | CA485627103 | MYH7 | c.180T>A (p.Thr60=) n.286T>A | |
| 14 | g.23433554G>A | CA389053655 | MYH7 | c.179C>T (p.Thr60Ile) n.285C>T | ClinVar dbSNP |
| 14 | g.23433554G>C | CA389053656 | MYH7 | c.179C>G (p.Thr60Ser) n.285C>G | |
| 14 | g.23433554G>T | CA389053657 | MYH7 | c.179C>A (p.Thr60Asn) n.285C>A | |
| 14 | g.23433555T>A | CA389053659 | MYH7 | c.178A>T (p.Thr60Ser) n.284A>T | |
| 14 | g.23433555T>C | CA389053662 | MYH7 | c.178A>G (p.Thr60Ala) n.284A>G | |
| 14 | g.23433555T>G | CA389053661 | MYH7 | c.178A>C (p.Thr60Pro) n.284A>C | |
| 14 | g.23433556G>A | CA485627108 | MYH7 | c.177C>T (p.Val59=) n.283C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23433556G>C | CA485627106 | MYH7 | c.177C>G (p.Val59=) n.283C>G | |
| 14 | g.23433556G>T | CA485627107 | MYH7 | c.177C>A (p.Val59=) n.283C>A | gnomAD v4 |
| 14 | g.23433557A>C | CA389053664 | MYH7 | c.176T>G (p.Val59Gly) n.282T>G | |
| 14 | g.23433557A>G | CA389053665 | MYH7 | c.176T>C (p.Val59Ala) n.282T>C | |
| 14 | g.23433557A>T | CA389053666 | MYH7 | c.176T>A (p.Val59Asp) n.282T>A | |
| 14 | g.23433558C>A | CA029331 | MYH7 | c.175G>T (p.Val59Phe) n.281G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23433558C= | CA2123455746 | MYH7 | c.175G= (p.Val59=) n.281G= | |
| 14 | g.23433558C>G | CA389053669 | MYH7 | c.175G>C (p.Val59Leu) n.281G>C | |
| 14 | g.23433558C>T | CA029319 | MYH7 | c.175G>A (p.Val59Ile) n.281G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23433558_23433559insCC | CA2624254182 | MYH7 | c.175_176insGG (p.Val59GlyfsTer12) n.281_282insGG | ClinVar gnomAD v4 |
| 14 | g.23433558_23433559insCCTC | CA2575487071 | MYH7 | c.175_176insAGGG (p.Val59GlufsTer?) n.281_282insAGGG | |
| 14 | g.23433559T>A | CA389053670 | MYH7 | c.174A>T (p.Lys58Asn) n.280A>T | |
| 14 | g.23433559T>C | CA485627109 | MYH7 | c.174A>G (p.Lys58=) n.280A>G | |
| 14 | g.23433559T>G | CA389053671 | MYH7 | c.174A>C (p.Lys58Asn) n.280A>C | |
| 14 | g.23433559_23433560insCC | CA2624254187 | MYH7 | c.173_174insGG (p.Val59GlufsTer12) n.279_280insGG | ClinVar gnomAD v4 |
| 14 | g.23433560T>A | CA389053672 | MYH7 | c.173A>T (p.Lys58Ile) n.279A>T | |
| 14 | g.23433560T>C | CA389053673 | MYH7 | c.173A>G (p.Lys58Arg) n.279A>G | |
| 14 | g.23433560T>G | CA389053674 | MYH7 | c.173A>C (p.Lys58Thr) n.279A>C | |
| 14 | g.23433561T>A | CA389053678 | MYH7 | c.172A>T (p.Lys58Ter) n.278A>T | |
| 14 | g.23433561T>C | CA389053677 | MYH7 | c.172A>G (p.Lys58Glu) n.278A>G | |
| 14 | g.23433561T>G | CA389053675 | MYH7 | c.172A>C (p.Lys58Gln) n.278A>C | |
| 14 | g.23433562G>A | CA485627110 | MYH7 | c.171C>T (p.Gly57=) n.277C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433562G>C | CA485627111 | MYH7 | c.171C>G (p.Gly57=) n.277C>G | |
| 14 | g.23433562G= | CA2123455750 | MYH7 | c.171C= (p.Gly57=) n.277C= | |
| 14 | g.23433562G>T | CA485627112 | MYH7 | c.171C>A (p.Gly57=) n.277C>A | ClinVar |
| 14 | g.23433563C>A | CA389053679 | MYH7 | c.170G>T (p.Gly57Val) n.276G>T | |
| 14 | g.23433563C= | CA2123455752 | MYH7 | c.170G= (p.Gly57=) n.276G= | |
| 14 | g.23433563C>G | CA389053680 | MYH7 | c.170G>C (p.Gly57Ala) n.276G>C | |
| 14 | g.23433563C>T | CA257826874 | MYH7 | c.170G>A (p.Gly57Asp) n.276G>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23433564C>A | CA389053682 | MYH7 | c.169G>T (p.Gly57Cys) n.275G>T | dbSNP |
| 14 | g.23433564C>G | CA389053684 | MYH7 | c.169G>C (p.Gly57Arg) n.275G>C | |
| 14 | g.23433564C>T | CA389053685 | MYH7 | c.169G>A (p.Gly57Ser) n.275G>A | |
| 14 | g.23433565A>C | CA485627113 | MYH7 | c.168T>G (p.Gly56=) n.274T>G | |
| 14 | g.23433565A>G | CA485627114 | MYH7 | c.168T>C (p.Gly56=) n.274T>C | ClinVar gnomAD v4 |
| 14 | g.23433565A>T | CA485627115 | MYH7 | c.168T>A (p.Gly56=) n.274T>A | |
| 14 | g.23433566C>A | CA389053687 | MYH7 | c.167G>T (p.Gly56Val) n.273G>T | ClinVar dbSNP |
| 14 | g.23433566C= | CA2123455758 | MYH7 | c.167G= (p.Gly56=) n.273G= | |
| 14 | g.23433566C>G | CA011120 | MYH7 | c.167G>C (p.Gly56Ala) n.273G>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433566C>T | CA389053688 | MYH7 | c.167G>A (p.Gly56Asp) n.273G>A | ClinVar gnomAD v4 |
| 14 | g.23433568del | CA2624254207 | MYH7 | c.167del (p.Gly56ValfsTer14) n.273del | gnomAD v4 |
| 14 | g.23433567C>A | CA389053689 | MYH7 | c.166G>T (p.Gly56Cys) n.272G>T | ClinVar dbSNP |
| 14 | g.23433567C= | CA2123455762 | MYH7 | c.166G= (p.Gly56=) n.272G= | |
| 14 | g.23433567C>G | CA389053690 | MYH7 | c.166G>C (p.Gly56Arg) n.272G>C | |
| 14 | g.23433567C>T | CA029071 | MYH7 | c.166G>A (p.Gly56Ser) n.272G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23433568C>A | CA389053691 | MYH7 | c.165G>T (p.Glu55Asp) n.271G>T | |
| 14 | g.23433568C= | CA2123455765 | MYH7 | c.165G= (p.Glu55=) n.271G= | |
| 14 | g.23433568C>G | CA389053692 | MYH7 | c.165G>C (p.Glu55Asp) n.271G>C | dbSNP gnomAD v4 |
| 14 | g.23433568C>T | CA485627116 | MYH7 | c.165G>A (p.Glu55=) n.271G>A | |
| 14 | g.23433569T>A | CA389053695 | MYH7 | c.164A>T (p.Glu55Val) n.270A>T | |
| 14 | g.23433569T>C | CA389053694 | MYH7 | c.164A>G (p.Glu55Gly) n.270A>G | |
| 14 | g.23433569T>G | CA389053693 | MYH7 | c.164A>C (p.Glu55Ala) n.270A>C | |
| 14 | g.23433570C>A | CA389053697 | MYH7 | c.163G>T (p.Glu55Ter) n.269G>T | |
| 14 | g.23433570C>G | CA389053699 | MYH7 | c.163G>C (p.Glu55Gln) n.269G>C | |
| 14 | g.23433570C>T | CA389053700 | MYH7 | c.163G>A (p.Glu55Lys) n.269G>A | |
| 14 | g.23433571T>A | CA485627117 | MYH7 | c.162A>T (p.Arg54=) n.268A>T | |
| 14 | g.23433571T>C | CA485627118 | MYH7 | c.162A>G (p.Arg54=) n.268A>G | dbSNP |
| 14 | g.23433571T>G | CA485627119 | MYH7 | c.162A>C (p.Arg54=) n.268A>C | |
| 14 | g.23433571T= | CA2123455768 | MYH7 | c.162A= (p.Arg54=) n.268A= | |
| 14 | g.23433572C>A | CA028998 | MYH7 | c.161G>T (p.Arg54Leu) n.267G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23433572C= | CA2123455774 | MYH7 | c.161G= (p.Arg54=) n.267G= | |
| 14 | g.23433572C>G | CA389053702 | MYH7 | c.161G>C (p.Arg54Pro) n.267G>C | ClinVar dbSNP COSMIC |
| 14 | g.23433572C>T | CA011076 | MYH7 | c.161G>A (p.Arg54Gln) n.267G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23433573G>A | CA257826887 | MYH7 | c.160C>T (p.Arg54Ter) n.266C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23433573G>C | CA028966 | MYH7 | c.160C>G (p.Arg54Gly) n.266C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23433573G= | CA2123455779 | MYH7 | c.160C= (p.Arg54=) n.266C= | |
| 14 | g.23433573G>T | CA485627120 | MYH7 | c.160C>A (p.Arg54=) n.266C>A | |
| 14 | g.23433574A>C | CA485627121 | MYH7 | c.159T>G (p.Ser53=) n.265T>G | |
| 14 | g.23433574A>G | CA485627122 | MYH7 | c.159T>C (p.Ser53=) n.265T>C | |
| 14 | g.23433574A>T | CA485627123 | MYH7 | c.159T>A (p.Ser53=) n.265T>A | |
| 14 | g.23433575G>A | CA389053706 | MYH7 | c.158C>T (p.Ser53Phe) n.264C>T | gnomAD v4 |
| 14 | g.23433575G>C | CA389053707 | MYH7 | c.158C>G (p.Ser53Cys) n.264C>G | |
| 14 | g.23433575G= | CA2123455784 | MYH7 | c.158C= (p.Ser53=) n.264C= | |
| 14 | g.23433575G>T | CA389053708 | MYH7 | c.158C>A (p.Ser53Tyr) n.264C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433576A= | CA2123455787 | MYH7 | c.157T= (p.Ser53=) n.263T= | |
| 14 | g.23433576A>C | CA389053714 | MYH7 | c.157T>G (p.Ser53Ala) n.263T>G | |
| 14 | g.23433576A>G | CA389053712 | MYH7 | c.157T>C (p.Ser53Pro) n.263T>C | dbSNP |
| 14 | g.23433576A>T | CA389053710 | MYH7 | c.157T>A (p.Ser53Thr) n.263T>A | |
| 14 | g.23433577C>A | CA485627124 | MYH7 | c.156G>T (p.Val52=) n.262G>T | |
| 14 | g.23433577C= | CA2123455792 | MYH7 | c.156G= (p.Val52=) n.262G= | |
| 14 | g.23433577C>G | CA028627 | MYH7 | c.156G>C (p.Val52=) n.262G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23433577C>T | CA010957 | MYH7 | c.156G>A (p.Val52=) n.262G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23433578A>C | CA389053716 | MYH7 | c.155T>G (p.Val52Gly) n.261T>G | |
| 14 | g.23433578A>G | CA389053718 | MYH7 | c.155T>C (p.Val52Ala) n.261T>C | |
| 14 | g.23433578A>T | CA389053719 | MYH7 | c.155T>A (p.Val52Glu) n.261T>A | |
| 14 | g.23433579C>A | CA389053721 | MYH7 | c.154G>T (p.Val52Leu) n.260G>T | |
| 14 | g.23433579C= | CA2123455798 | MYH7 | c.154G= (p.Val52=) n.260G= | |
| 14 | g.23433579C>G | CA389053722 | MYH7 | c.154G>C (p.Val52Leu) n.260G>C | ClinVar dbSNP |
| 14 | g.23433579C>T | CA010937 | MYH7 | c.154G>A (p.Val52Met) n.260G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23433580G>A | CA010913 | MYH7 | c.153C>T (p.Ile51=) n.259C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23433580G>C | CA389053725 | MYH7 | c.153C>G (p.Ile51Met) n.259C>G | |
| 14 | g.23433580G= | CA2123455803 | MYH7 | c.153C= (p.Ile51=) n.259C= | |
| 14 | g.23433580G>T | CA485627125 | MYH7 | c.153C>A (p.Ile51=) n.259C>A | |
| 14 | g.23433581A= | CA2123455807 | MYH7 | c.152T= (p.Ile51=) n.258T= | |
| 14 | g.23433581A>C | CA389053727 | MYH7 | c.152T>G (p.Ile51Ser) n.258T>G | |
| 14 | g.23433581A>G | CA389053728 | MYH7 | c.152T>C (p.Ile51Thr) n.258T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433581A>T | CA389053729 | MYH7 | c.152T>A (p.Ile51Asn) n.258T>A | |
| 14 | g.23433582T>A | CA389053734 | MYH7 | c.151A>T (p.Ile51Phe) n.257A>T | |
| 14 | g.23433582T>C | CA389053731 | MYH7 | c.151A>G (p.Ile51Val) n.257A>G | |
| 14 | g.23433582T>G | CA389053733 | MYH7 | c.151A>C (p.Ile51Leu) n.257A>C | |
| 14 | g.23433583C>A | CA389053735 | MYH7 | c.150G>T (p.Lys50Asn) n.256G>T | |
| 14 | g.23433583C>G | CA389053736 | MYH7 | c.150G>C (p.Lys50Asn) n.256G>C | |
| 14 | g.23433583C>T | CA485627126 | MYH7 | c.150G>A (p.Lys50=) n.256G>A | |
| 14 | g.23433584T>A | CA389053738 | MYH7 | c.149A>T (p.Lys50Met) n.255A>T | |
| 14 | g.23433584T>C | CA389053740 | MYH7 | c.149A>G (p.Lys50Arg) n.255A>G | |
| 14 | g.23433584T>G | CA389053741 | MYH7 | c.149A>C (p.Lys50Thr) n.255A>C | |
| 14 | g.23433585T>A | CA389053742 | MYH7 | c.148A>T (p.Lys50Ter) n.254A>T | |
| 14 | g.23433585T>C | CA389053744 | MYH7 | c.148A>G (p.Lys50Glu) n.254A>G | |
| 14 | g.23433585T>G | CA389053745 | MYH7 | c.148A>C (p.Lys50Gln) n.254A>C | |
| 14 | g.23433586G>A | CA485627127 | MYH7 | c.147C>T (p.Ala49=) n.253C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433586G>C | CA028563 | MYH7 | c.147C>G (p.Ala49=) n.253C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23433586G= | CA2123455811 | MYH7 | c.147C= (p.Ala49=) n.253C= | |
| 14 | g.23433586G>T | CA485627128 | MYH7 | c.147C>A (p.Ala49=) n.253C>A | |
| 14 | g.23433587G>A | CA389053748 | MYH7 | c.146C>T (p.Ala49Val) n.252C>T | |
| 14 | g.23433587G>C | CA389053749 | MYH7 | c.146C>G (p.Ala49Gly) n.252C>G | |
| 14 | g.23433587G>T | CA389053751 | MYH7 | c.146C>A (p.Ala49Asp) n.252C>A | |
| 14 | g.23433588C>A | CA389053754 | MYH7 | c.145G>T (p.Ala49Ser) n.251G>T | dbSNP |
| 14 | g.23433588C= | CA2123455816 | MYH7 | c.145G= (p.Ala49=) n.251G= | |
| 14 | g.23433588C>G | CA389053756 | MYH7 | c.145G>C (p.Ala49Pro) n.251G>C | |
| 14 | g.23433588C>T | CA389053752 | MYH7 | c.145G>A (p.Ala49Thr) n.251G>A | |
| 14 | g.23433589C>A | CA389053758 | MYH7 | c.144G>T (p.Lys48Asn) n.250G>T | |
| 14 | g.23433589C= | CA2123455818 | MYH7 | c.144G= (p.Lys48=) n.250G= | |
| 14 | g.23433589C>G | CA389053757 | MYH7 | c.144G>C (p.Lys48Asn) n.250G>C | |
| 14 | g.23433589C>T | CA485627129 | MYH7 | c.144G>A (p.Lys48=) n.250G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433590T>A | CA389053760 | MYH7 | c.143A>T (p.Lys48Met) n.249A>T | |
| 14 | g.23433590T>C | CA389053761 | MYH7 | c.143A>G (p.Lys48Arg) n.249A>G | gnomAD v4 |
| 14 | g.23433590T>G | CA389053762 | MYH7 | c.143A>C (p.Lys48Thr) n.249A>C | gnomAD v4 |
| 14 | g.23433591T>A | CA389053764 | MYH7 | c.142A>T (p.Lys48Ter) n.248A>T | |
| 14 | g.23433591T>C | CA389053765 | MYH7 | c.142A>G (p.Lys48Glu) n.248A>G | |
| 14 | g.23433591T>G | CA389053766 | MYH7 | c.142A>C (p.Lys48Gln) n.248A>C | |
| 14 | g.23433592G>A | CA485627132 | MYH7 | c.141C>T (p.Val47=) n.247C>T | |
| 14 | g.23433592G>C | CA485627131 | MYH7 | c.141C>G (p.Val47=) n.247C>G | gnomAD v4 |
| 14 | g.23433592G>T | CA485627130 | MYH7 | c.141C>A (p.Val47=) n.247C>A | gnomAD v4 |
| 14 | g.23433593A= | CA2123455823 | MYH7 | c.140T= (p.Val47=) n.246T= | |
| 14 | g.23433593A>C | CA389053772 | MYH7 | c.140T>G (p.Val47Gly) n.246T>G | |
| 14 | g.23433593A>G | CA389053768 | MYH7 | c.140T>C (p.Val47Ala) n.246T>C | dbSNP |
| 14 | g.23433593A>T | CA389053770 | MYH7 | c.140T>A (p.Val47Asp) n.246T>A | ClinVar dbSNP |
| 14 | g.23433594C>A | CA389053773 | MYH7 | c.139G>T (p.Val47Phe) n.245G>T | |
| 14 | g.23433594C>G | CA389053774 | MYH7 | c.139G>C (p.Val47Leu) n.245G>C | gnomAD v4 |
| 14 | g.23433594C>T | CA389053775 | MYH7 | c.139G>A (p.Val47Ile) n.245G>A | |
| 14 | g.23433595A= | CA2123455825 | MYH7 | c.138T= (p.Phe46=) n.244T= | |
| 14 | g.23433595A>C | CA389053776 | MYH7 | c.138T>G (p.Phe46Leu) n.244T>G | |
| 14 | g.23433595A>G | CA485627133 | MYH7 | c.138T>C (p.Phe46=) n.244T>C | |
| 14 | g.23433595A>T | CA028303 | MYH7 | c.138T>A (p.Phe46Leu) n.244T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23433596A= | CA2123455834 | MYH7 | c.137T= (p.Phe46=) n.243T= | |
| 14 | g.23433596A>C | CA010662 | MYH7 | c.137T>G (p.Phe46Cys) n.243T>G | ClinVar dbSNP |
| 14 | g.23433596A>G | CA389053780 | MYH7 | c.137T>C (p.Phe46Ser) n.243T>C | |
| 14 | g.23433596A>T | CA389053779 | MYH7 | c.137T>A (p.Phe46Tyr) n.243T>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433597A= | CA2123455839 | MYH7 | c.136T= (p.Phe46=) n.242T= | |
| 14 | g.23433597A>C | CA389053782 | MYH7 | c.136T>G (p.Phe46Val) n.242T>G | |
| 14 | g.23433597A>G | CA389053784 | MYH7 | c.136T>C (p.Phe46Leu) n.242T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433597A>T | CA389053785 | MYH7 | c.136T>A (p.Phe46Ile) n.242T>A | ClinVar dbSNP |
| 14 | g.23433598C>A | CA010647 | MYH7 | c.135G>T (p.Glu45Asp) n.241G>T | ClinVar dbSNP |
| 14 | g.23433598C= | CA2123455845 | MYH7 | c.135G= (p.Glu45=) n.241G= | |
| 14 | g.23433598C>G | CA389053787 | MYH7 | c.135G>C (p.Glu45Asp) n.241G>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23433598C>T | CA485627134 | MYH7 | c.135G>A (p.Glu45=) n.241G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23433599T>A | CA389053789 | MYH7 | c.134A>T (p.Glu45Val) n.240A>T | |
| 14 | g.23433599T>C | CA350127 | MYH7 | c.134A>G (p.Glu45Gly) n.240A>G | ClinVar dbSNP |
| 14 | g.23433599T>G | CA389053791 | MYH7 | c.134A>C (p.Glu45Ala) n.240A>C | |
| 14 | g.23433599T= | CA2123455854 | MYH7 | c.134A= (p.Glu45=) n.240A= | |
| 14 | g.23433600C>A | CA389053793 | MYH7 | c.133G>T (p.Glu45Ter) n.239G>T | |
| 14 | g.23433600C>G | CA389053794 | MYH7 | c.133G>C (p.Glu45Gln) n.239G>C | |
| 14 | g.23433600C>T | CA389053795 | MYH7 | c.133G>A (p.Glu45Lys) n.239G>A | ClinVar |
| 14 | g.23433601C>A | CA389053797 | MYH7 | c.132G>T (p.Gln44His) n.238G>T | |
| 14 | g.23433601C= | CA2123455855 | MYH7 | c.132G= (p.Gln44=) n.238G= | |
| 14 | g.23433601C>G | CA389053799 | MYH7 | c.132G>C (p.Gln44His) n.238G>C | |
| 14 | g.23433601C>T | CA028207 | MYH7 | c.132G>A (p.Gln44=) n.238G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23433602T>A | CA389053800 | MYH7 | c.131A>T (p.Gln44Leu) n.237A>T | gnomAD v4 |
| 14 | g.23433602T>C | CA389053802 | MYH7 | c.131A>G (p.Gln44Arg) n.237A>G | |
| 14 | g.23433602T>G | CA389053803 | MYH7 | c.131A>C (p.Gln44Pro) n.237A>C | |
| 14 | g.23433603G>A | CA010506 | MYH7 | c.130C>T (p.Gln44Ter) n.236C>T | ClinVar dbSNP |
| 14 | g.23433603G>C | CA389053806 | MYH7 | c.130C>G (p.Gln44Glu) n.236C>G | dbSNP |
| 14 | g.23433603G= | CA2123455862 | MYH7 | c.130C= (p.Gln44=) n.236C= | |
| 14 | g.23433603G>T | CA389053807 | MYH7 | c.130C>A (p.Gln44Lys) n.236C>A | |
| 14 | g.23433603_23433604delinsGT | CA2123455863 | MYH7 | c.129_130delinsAC (p.Lys43=) n.235_236delinsAC |