Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.49974447A>CCA402432629MYO5Bc.1022T>G
c.1225T>G (p.Tyr409Asp)
c.1222T>G (p.Tyr408Asp)
18g.49974447A>GCA402432631MYO5Bc.1022T>C
c.1225T>C (p.Tyr409His)
c.1222T>C (p.Tyr408His)
18g.49974447A>TCA402432634MYO5Bc.1022T>A
c.1225T>A (p.Tyr409Asn)
c.1222T>A (p.Tyr408Asn)
18g.49974448G>ACA503991932MYO5Bc.1021C>T
c.1224C>T (p.Ile408=)
c.1221C>T (p.Ile407=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.49974448G>CCA402432636MYO5Bc.1021C>G
c.1224C>G (p.Ile408Met)
c.1221C>G (p.Ile407Met)
 gnomAD v4
18g.49974448G=CA2302477539MYO5Bc.1021C=
c.1224C= (p.Ile408=)
c.1221C= (p.Ile407=)
18g.49974448G>TCA503991933MYO5Bc.1021C>A
c.1224C>A (p.Ile408=)
c.1221C>A (p.Ile407=)
18g.49974449A>CCA402432643MYO5Bc.1020T>G
c.1223T>G (p.Ile408Ser)
c.1220T>G (p.Ile407Ser)
18g.49974449A>GCA402432642MYO5Bc.1020T>C
c.1223T>C (p.Ile408Thr)
c.1220T>C (p.Ile407Thr)
18g.49974449A>TCA402432639MYO5Bc.1020T>A
c.1223T>A (p.Ile408Asn)
c.1220T>A (p.Ile407Asn)
18g.49974450T>ACA402432646MYO5Bc.1019A>T
c.1222A>T (p.Ile408Phe)
c.1219A>T (p.Ile407Phe)
 ClinVar dbSNP
18g.49974450T>CCA402432648MYO5Bc.1019A>G
c.1222A>G (p.Ile408Val)
c.1219A>G (p.Ile407Val)
 ClinVar dbSNP
18g.49974450T>GCA402432650MYO5Bc.1019A>C
c.1222A>C (p.Ile408Leu)
c.1219A>C (p.Ile407Leu)
18g.49974450T=CA2302477540MYO5Bc.1019A=
c.1222A= (p.Ile408=)
c.1219A= (p.Ile407=)
18g.49974451G>ACA503991935MYO5Bc.1018C>T
c.1221C>T (p.His407=)
c.1218C>T (p.His406=)
 ClinVar dbSNP gnomAD v4
18g.49974451G>CCA402432652MYO5Bc.1018C>G
c.1221C>G (p.His407Gln)
c.1218C>G (p.His406Gln)
18g.49974451G=CA2302477541MYO5Bc.1018C=
c.1221C= (p.His407=)
c.1218C= (p.His406=)
18g.49974451G>TCA402432654MYO5Bc.1018C>A
c.1221C>A (p.His407Gln)
c.1218C>A (p.His406Gln)
18g.49974452T>ACA402432655MYO5Bc.1017A>T
c.1220A>T (p.His407Leu)
c.1217A>T (p.His406Leu)
 ClinVar dbSNP gnomAD v2
18g.49974452T>CCA402432656MYO5Bc.1017A>G
c.1220A>G (p.His407Arg)
c.1217A>G (p.His406Arg)
18g.49974452T>GCA402432657MYO5Bc.1017A>C
c.1220A>C (p.His407Pro)
c.1217A>C (p.His406Pro)
18g.49974452T=CA2302477542MYO5Bc.1017A=
c.1220A= (p.His407=)
c.1217A= (p.His406=)
18g.49974453G>ACA402432659MYO5Bc.1016C>T
c.1219C>T (p.His407Tyr)
c.1216C>T (p.His406Tyr)
18g.49974453G>CCA402432661MYO5Bc.1016C>G
c.1219C>G (p.His407Asp)
c.1216C>G (p.His406Asp)
18g.49974453G>TCA402432662MYO5Bc.1016C>A
c.1219C>A (p.His407Asn)
c.1216C>A (p.His406Asn)
18g.49974454C>ACA402432664MYO5Bc.1015G>T
c.1218G>T (p.Lys406Asn)
c.1215G>T (p.Lys405Asn)
18g.49974454C>GCA402432667MYO5Bc.1015G>C
c.1218G>C (p.Lys406Asn)
c.1215G>C (p.Lys405Asn)
18g.49974454C>TCA503991936MYO5Bc.1015G>A
c.1218G>A (p.Lys406=)
c.1215G>A (p.Lys405=)
18g.49974455T>ACA402432671MYO5Bc.1014A>T
c.1217A>T (p.Lys406Met)
c.1214A>T (p.Lys405Met)
18g.49974455T>CCA402432672MYO5Bc.1014A>G
c.1217A>G (p.Lys406Arg)
c.1214A>G (p.Lys405Arg)
18g.49974455T>GCA402432669MYO5Bc.1014A>C
c.1217A>C (p.Lys406Thr)
c.1214A>C (p.Lys405Thr)
18g.49974456T>ACA8961605MYO5Bc.1013A>T
c.1216A>T (p.Lys406Ter)
c.1213A>T (p.Lys405Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.49974456T>CCA402432676MYO5Bc.1013A>G
c.1216A>G (p.Lys406Glu)
c.1213A>G (p.Lys405Glu)
18g.49974456T>GCA402432675MYO5Bc.1013A>C
c.1216A>C (p.Lys406Gln)
c.1213A>C (p.Lys405Gln)
18g.49974456T=CA2302477543MYO5Bc.1013A=
c.1216A= (p.Lys406=)
c.1213A= (p.Lys405=)
18g.49974457C>ACA503991938MYO5Bc.1012G>T
c.1215G>T (p.Ala405=)
c.1212G>T (p.Ala404=)
18g.49974457C=CA2302477544MYO5Bc.1012G=
c.1215G= (p.Ala405=)
c.1212G= (p.Ala404=)
18g.49974457C>GCA503991939MYO5Bc.1012G>C
c.1215G>C (p.Ala405=)
c.1212G>C (p.Ala404=)
18g.49974457C>TCA8961606MYO5Bc.1012G>A
c.1215G>A (p.Ala405=)
c.1212G>A (p.Ala404=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.49974458G>ACA8961607MYO5Bc.1011C>T
c.1214C>T (p.Ala405Val)
c.1211C>T (p.Ala404Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.49974458G>CCA402432679MYO5Bc.1011C>G
c.1214C>G (p.Ala405Gly)
c.1211C>G (p.Ala404Gly)
18g.49974458G=CA2302477545MYO5Bc.1011C=
c.1214C= (p.Ala405=)
c.1211C= (p.Ala404=)
18g.49974458G>TCA402432681MYO5Bc.1011C>A
c.1214C>A (p.Ala405Glu)
c.1211C>A (p.Ala404Glu)
18g.49974459C>ACA402432685MYO5Bc.1010G>T
c.1213G>T (p.Ala405Ser)
c.1210G>T (p.Ala404Ser)
18g.49974459C>GCA402432687MYO5Bc.1010G>C
c.1213G>C (p.Ala405Pro)
c.1210G>C (p.Ala404Pro)
18g.49974459C>TCA402432688MYO5Bc.1010G>A
c.1213G>A (p.Ala405Thr)
c.1210G>A (p.Ala404Thr)
18g.49974460C>ACA299985951MYO5Bc.1009G>T
c.1212G>T (p.Leu404=)
c.1209G>T (p.Leu403=)
 ClinVar dbSNP gnomAD v4
18g.49974460C=CA2302477546MYO5Bc.1009G=
c.1212G= (p.Leu404=)
c.1209G= (p.Leu403=)
18g.49974460C>GCA503991941MYO5Bc.1009G>C
c.1212G>C (p.Leu404=)
c.1209G>C (p.Leu403=)
18g.49974460C>TCA503991942MYO5Bc.1009G>A
c.1212G>A (p.Leu404=)
c.1209G>A (p.Leu403=)

Number of alleles fetched