OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23419854_23419866delinsGATGATCTGCTCC | CA2123446042 | MYH7 | c.3705_3717delinsGGAGCAGATCATC (p.Met1235=) | |
| 14 | g.23419858_23419869del | CA013971 | MYH7 | c.3705_3716del (p.Met1235_Ile1238del) | ClinVar dbSNP |
| 14 | g.23419856T>A | CA389042930 | MYH7 | c.3715A>T (p.Ile1239Phe) | |
| 14 | g.23419856T>C | CA389042932 | MYH7 | c.3715A>G (p.Ile1239Val) | ClinVar dbSNP |
| 14 | g.23419856T>G | CA389042934 | MYH7 | c.3715A>C (p.Ile1239Leu) | gnomAD v4 |
| 14 | g.23419856T= | CA2123446048 | MYH7 | c.3715A= (p.Ile1239=) | |
| 14 | g.23419857G>A | CA485766628 | MYH7 | c.3714C>T (p.Ile1238=) | |
| 14 | g.23419857G>C | CA389042935 | MYH7 | c.3714C>G (p.Ile1238Met) | |
| 14 | g.23419857G>T | CA485766629 | MYH7 | c.3714C>A (p.Ile1238=) | ClinVar |
| 14 | g.23419858A>C | CA389042937 | MYH7 | c.3713T>G (p.Ile1238Ser) | |
| 14 | g.23419858A>G | CA389042938 | MYH7 | c.3713T>C (p.Ile1238Thr) | |
| 14 | g.23419858A>T | CA389042939 | MYH7 | c.3713T>A (p.Ile1238Asn) | |
| 14 | g.23419859T>A | CA389042940 | MYH7 | c.3712A>T (p.Ile1238Phe) | ClinVar dbSNP |
| 14 | g.23419859T>C | CA389042941 | MYH7 | c.3712A>G (p.Ile1238Val) | |
| 14 | g.23419859T>G | CA389042942 | MYH7 | c.3712A>C (p.Ile1238Leu) | |
| 14 | g.23419860C>A | CA389042943 | MYH7 | c.3711G>T (p.Gln1237His) | |
| 14 | g.23419860C= | CA2123446052 | MYH7 | c.3711G= (p.Gln1237=) | |
| 14 | g.23419860C>G | CA389042944 | MYH7 | c.3711G>C (p.Gln1237His) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419860C>T | CA485766630 | MYH7 | c.3711G>A (p.Gln1237=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419861T>A | CA389042949 | MYH7 | c.3710A>T (p.Gln1237Leu) | |
| 14 | g.23419861T>C | CA389042945 | MYH7 | c.3710A>G (p.Gln1237Arg) | ClinVar dbSNP |
| 14 | g.23419861T>G | CA389042948 | MYH7 | c.3710A>C (p.Gln1237Pro) | |
| 14 | g.23419861T= | CA2123446059 | MYH7 | c.3710A= (p.Gln1237=) | |
| 14 | g.23419862G>A | CA389042950 | MYH7 | c.3709C>T (p.Gln1237Ter) | |
| 14 | g.23419862G>C | CA389042954 | MYH7 | c.3709C>G (p.Gln1237Glu) | ClinVar |
| 14 | g.23419862G>T | CA389042952 | MYH7 | c.3709C>A (p.Gln1237Lys) | |
| 14 | g.23419863C>A | CA389042955 | MYH7 | c.3708G>T (p.Glu1236Asp) | |
| 14 | g.23419863C>G | CA389042957 | MYH7 | c.3708G>C (p.Glu1236Asp) | |
| 14 | g.23419863C>T | CA485766631 | MYH7 | c.3708G>A (p.Glu1236=) | |
| 14 | g.23419864T>A | CA389042958 | MYH7 | c.3707A>T (p.Glu1236Val) | |
| 14 | g.23419864T>C | CA389042960 | MYH7 | c.3707A>G (p.Glu1236Gly) | |
| 14 | g.23419864T>G | CA389042961 | MYH7 | c.3707A>C (p.Glu1236Ala) | |
| 14 | g.23419865C>A | CA389042966 | MYH7 | c.3706G>T (p.Glu1236Ter) | |
| 14 | g.23419865C>G | CA389042965 | MYH7 | c.3706G>C (p.Glu1236Gln) | gnomAD v4 |
| 14 | g.23419865C>T | CA389042963 | MYH7 | c.3706G>A (p.Glu1236Lys) | |
| 14 | g.23419866C>A | CA389042968 | MYH7 | c.3705G>T (p.Met1235Ile) | dbSNP gnomAD v2 |
| 14 | g.23419866C= | CA2123446061 | MYH7 | c.3705G= (p.Met1235=) | |
| 14 | g.23419866C>G | CA389042969 | MYH7 | c.3705G>C (p.Met1235Ile) | |
| 14 | g.23419866C>T | CA389042971 | MYH7 | c.3705G>A (p.Met1235Ile) | |
| 14 | g.23419867A= | CA2123446064 | MYH7 | c.3704T= (p.Met1235=) | |
| 14 | g.23419867A>C | CA389042972 | MYH7 | c.3704T>G (p.Met1235Arg) | |
| 14 | g.23419867A>G | CA389042973 | MYH7 | c.3704T>C (p.Met1235Thr) | dbSNP |
| 14 | g.23419867A>T | CA389042975 | MYH7 | c.3704T>A (p.Met1235Lys) | |
| 14 | g.23419868T>A | CA389042977 | MYH7 | c.3703A>T (p.Met1235Leu) | |
| 14 | g.23419868T>C | CA389042979 | MYH7 | c.3703A>G (p.Met1235Val) | |
| 14 | g.23419868T>G | CA389042978 | MYH7 | c.3703A>C (p.Met1235Leu) | |
| 14 | g.23419869G>A | CA485766632 | MYH7 | c.3702C>T (p.Asn1234=) | |
| 14 | g.23419869G>C | CA389042981 | MYH7 | c.3702C>G (p.Asn1234Lys) | |
| 14 | g.23419869G>T | CA389042982 | MYH7 | c.3702C>A (p.Asn1234Lys) | |
| 14 | g.23419870T>A | CA389042984 | MYH7 | c.3701A>T (p.Asn1234Ile) | |
| 14 | g.23419870T>C | CA389042986 | MYH7 | c.3701A>G (p.Asn1234Ser) | |
| 14 | g.23419870T>G | CA038322 | MYH7 | c.3701A>C (p.Asn1234Thr) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 14 | g.23419870T= | CA2123446073 | MYH7 | c.3701A= (p.Asn1234=) | |
| 14 | g.23419870_23419871insA | CA485766633 | MYH7 | c.3700_3701insT (p.Asn1234IlefsTer11) | |
| 14 | g.23419871T>A | CA389042989 | MYH7 | c.3700A>T (p.Asn1234Tyr) | |
| 14 | g.23419871T>C | CA389042991 | MYH7 | c.3700A>G (p.Asn1234Asp) | |
| 14 | g.23419871T>G | CA389042992 | MYH7 | c.3700A>C (p.Asn1234His) | dbSNP |
| 14 | g.23419871T= | CA2123446077 | MYH7 | c.3700A= (p.Asn1234=) | |
| 14 | g.23419872G>A | CA485766634 | MYH7 | c.3699C>T (p.Ser1233=) | ClinVar dbSNP |
| 14 | g.23419872G>C | CA485766635 | MYH7 | c.3699C>G (p.Ser1233=) | |
| 14 | g.23419872G= | CA2123446080 | MYH7 | c.3699C= (p.Ser1233=) | |
| 14 | g.23419872G>T | CA485766636 | MYH7 | c.3699C>A (p.Ser1233=) | |
| 14 | g.23419873G>A | CA038296 | MYH7 | c.3698C>T (p.Ser1233Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419873G>C | CA389042995 | MYH7 | c.3698C>G (p.Ser1233Cys) | |
| 14 | g.23419873G= | CA2123446084 | MYH7 | c.3698C= (p.Ser1233=) | |
| 14 | g.23419873G>T | CA389042996 | MYH7 | c.3698C>A (p.Ser1233Tyr) | |
| 14 | g.23419874A>C | CA389042998 | MYH7 | c.3697T>G (p.Ser1233Ala) | |
| 14 | g.23419874A>G | CA389043000 | MYH7 | c.3697T>C (p.Ser1233Pro) | |
| 14 | g.23419874A>T | CA389042999 | MYH7 | c.3697T>A (p.Ser1233Thr) | |
| 14 | g.23419875G>A | CA485766637 | MYH7 | c.3696C>T (p.Thr1232=) | ClinVar dbSNP |
| 14 | g.23419875G>C | CA485766638 | MYH7 | c.3696C>G (p.Thr1232=) | |
| 14 | g.23419875G= | CA2123446090 | MYH7 | c.3696C= (p.Thr1232=) | |
| 14 | g.23419875G>T | CA485766639 | MYH7 | c.3696C>A (p.Thr1232=) | |
| 14 | g.23419876G>A | CA389043002 | MYH7 | c.3695C>T (p.Thr1232Ile) | ClinVar |
| 14 | g.23419876G>C | CA389043004 | MYH7 | c.3695C>G (p.Thr1232Ser) | |
| 14 | g.23419876G>T | CA389043005 | MYH7 | c.3695C>A (p.Thr1232Asn) | |
| 14 | g.23419878_23419882del | CA961071402 | MYH7 | c.3691_3695del (p.Val1231LeufsTer12) | ClinVar gnomAD v3 gnomAD v4 |
| 14 | g.23419877T>A | CA389043007 | MYH7 | c.3694A>T (p.Thr1232Ser) | |
| 14 | g.23419877T>C | CA389043008 | MYH7 | c.3694A>G (p.Thr1232Ala) | |
| 14 | g.23419877T>G | CA389043009 | MYH7 | c.3694A>C (p.Thr1232Pro) | |
| 14 | g.23419878G>A | CA485766640 | MYH7 | c.3693C>T (p.Val1231=) | ClinVar |
| 14 | g.23419878G>C | CA485766641 | MYH7 | c.3693C>G (p.Val1231=) | |
| 14 | g.23419878G>T | CA485766642 | MYH7 | c.3693C>A (p.Val1231=) | |
| 14 | g.23419879A>C | CA389043012 | MYH7 | c.3692T>G (p.Val1231Gly) | |
| 14 | g.23419879A>G | CA389043013 | MYH7 | c.3692T>C (p.Val1231Ala) | |
| 14 | g.23419879A>T | CA389043015 | MYH7 | c.3692T>A (p.Val1231Asp) | |
| 14 | g.23419880C>A | CA389043016 | MYH7 | c.3691G>T (p.Val1231Phe) | |
| 14 | g.23419880C= | CA2123446095 | MYH7 | c.3691G= (p.Val1231=) | |
| 14 | g.23419880C>G | CA389043017 | MYH7 | c.3691G>C (p.Val1231Leu) | |
| 14 | g.23419880C>T | CA389043018 | MYH7 | c.3691G>A (p.Val1231Ile) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419881G>A | CA038287 | MYH7 | c.3690C>T (p.Asp1230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419881G>C | CA389043021 | MYH7 | c.3690C>G (p.Asp1230Glu) | ClinVar |
| 14 | g.23419881G= | CA2123446102 | MYH7 | c.3690C= (p.Asp1230=) | |
| 14 | g.23419881G>T | CA389043022 | MYH7 | c.3690C>A (p.Asp1230Glu) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419882T>A | CA389043025 | MYH7 | c.3689A>T (p.Asp1230Val) | |
| 14 | g.23419882T>C | CA389043027 | MYH7 | c.3689A>G (p.Asp1230Gly) | |
| 14 | g.23419882T>G | CA389043028 | MYH7 | c.3689A>C (p.Asp1230Ala) | |
| 14 | g.23419883C>A | CA389043030 | MYH7 | c.3688G>T (p.Asp1230Tyr) | |
| 14 | g.23419883C>G | CA389043032 | MYH7 | c.3688G>C (p.Asp1230His) | |
| 14 | g.23419883C>T | CA389043033 | MYH7 | c.3688G>A (p.Asp1230Asn) | |
| 14 | g.23419884A>C | CA389043034 | MYH7 | c.3687T>G (p.Asp1229Glu) | |
| 14 | g.23419884A>G | CA485766643 | MYH7 | c.3687T>C (p.Asp1229=) | ClinVar dbSNP |
| 14 | g.23419884A>T | CA389043036 | MYH7 | c.3687T>A (p.Asp1229Glu) | |
| 14 | g.23419885T>A | CA389043037 | MYH7 | c.3686A>T (p.Asp1229Val) | |
| 14 | g.23419885T>C | CA389043038 | MYH7 | c.3686A>G (p.Asp1229Gly) | |
| 14 | g.23419885T>G | CA389043040 | MYH7 | c.3686A>C (p.Asp1229Ala) | |
| 14 | g.23419886C>A | CA389043045 | MYH7 | c.3685G>T (p.Asp1229Tyr) | |
| 14 | g.23419886C>G | CA389043044 | MYH7 | c.3685G>C (p.Asp1229His) | gnomAD v4 |
| 14 | g.23419886C>T | CA389043042 | MYH7 | c.3685G>A (p.Asp1229Asn) | |
| 14 | g.23419887del | CA2624231306 | MYH7 | c.3685del (p.Asp1229MetfsTer28) | gnomAD v4 |
| 14 | g.23419887C>A | CA485766644 | MYH7 | c.3684G>T (p.Leu1228=) | |
| 14 | g.23419887C= | CA2123446108 | MYH7 | c.3684G= (p.Leu1228=) | |
| 14 | g.23419887C>G | CA485766646 | MYH7 | c.3684G>C (p.Leu1228=) | |
| 14 | g.23419887C>T | CA485766645 | MYH7 | c.3684G>A (p.Leu1228=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419888A>C | CA389043049 | MYH7 | c.3683T>G (p.Leu1228Arg) | |
| 14 | g.23419888A>G | CA389043047 | MYH7 | c.3683T>C (p.Leu1228Pro) | |
| 14 | g.23419888A>T | CA389043051 | MYH7 | c.3683T>A (p.Leu1228Gln) | |
| 14 | g.23419889G>A | CA013964 | MYH7 | c.3682C>T (p.Leu1228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419889G>C | CA389043052 | MYH7 | c.3682C>G (p.Leu1228Val) | |
| 14 | g.23419889G= | CA2123446112 | MYH7 | c.3682C= (p.Leu1228=) | |
| 14 | g.23419889G>T | CA389043054 | MYH7 | c.3682C>A (p.Leu1228Met) | |
| 14 | g.23419890C>A | CA389043056 | MYH7 | c.3681G>T (p.Glu1227Asp) | |
| 14 | g.23419890C>G | CA389043058 | MYH7 | c.3681G>C (p.Glu1227Asp) | |
| 14 | g.23419890C>T | CA485766647 | MYH7 | c.3681G>A (p.Glu1227=) | ClinVar gnomAD v4 |
| 14 | g.23419891T>A | CA389043059 | MYH7 | c.3680A>T (p.Glu1227Val) | |
| 14 | g.23419891T>C | CA389043060 | MYH7 | c.3680A>G (p.Glu1227Gly) | ClinVar |
| 14 | g.23419891T>G | CA389043061 | MYH7 | c.3680A>C (p.Glu1227Ala) | |
| 14 | g.23419892C>A | CA389043063 | MYH7 | c.3679G>T (p.Glu1227Ter) | |
| 14 | g.23419892C= | CA2123446116 | MYH7 | c.3679G= (p.Glu1227=) | |
| 14 | g.23419892C>G | CA038269 | MYH7 | c.3679G>C (p.Glu1227Gln) | dbSNP ExAC gnomAD v2 |
| 14 | g.23419892C>T | CA389043064 | MYH7 | c.3679G>A (p.Glu1227Lys) | |
| 14 | g.23419893C>A | CA485766648 | MYH7 | c.3678G>T (p.Leu1226=) | |
| 14 | g.23419893C>G | CA485766649 | MYH7 | c.3678G>C (p.Leu1226=) | |
| 14 | g.23419893C>T | CA485766650 | MYH7 | c.3678G>A (p.Leu1226=) | gnomAD v4 |
| 14 | g.23419894A>C | CA389043069 | MYH7 | c.3677T>G (p.Leu1226Arg) | ClinVar |
| 14 | g.23419894A>G | CA389043068 | MYH7 | c.3677T>C (p.Leu1226Pro) | ClinVar dbSNP |
| 14 | g.23419894A>T | CA389043066 | MYH7 | c.3677T>A (p.Leu1226Gln) | |
| 14 | g.23419895G>A | CA485766651 | MYH7 | c.3676C>T (p.Leu1226=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419895G>C | CA10577506 | MYH7 | c.3676C>G (p.Leu1226Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419895G= | CA2123446122 | MYH7 | c.3676C= (p.Leu1226=) | |
| 14 | g.23419895G>T | CA389043070 | MYH7 | c.3676C>A (p.Leu1226Met) | |
| 14 | g.23419896C>A | CA389043071 | MYH7 | c.3675G>T (p.Lys1225Asn) | |
| 14 | g.23419896C= | CA2123446128 | MYH7 | c.3675G= (p.Lys1225=) | |
| 14 | g.23419896C>G | CA389043073 | MYH7 | c.3675G>C (p.Lys1225Asn) | |
| 14 | g.23419896C>T | CA485766652 | MYH7 | c.3675G>A (p.Lys1225=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419897T>A | CA389043075 | MYH7 | c.3674A>T (p.Lys1225Met) | |
| 14 | g.23419897T>C | CA389043077 | MYH7 | c.3674A>G (p.Lys1225Arg) | |
| 14 | g.23419897T>G | CA389043078 | MYH7 | c.3674A>C (p.Lys1225Thr) | |
| 14 | g.23419898T>A | CA389043079 | MYH7 | c.3673A>T (p.Lys1225Ter) | |
| 14 | g.23419898T>C | CA389043081 | MYH7 | c.3673A>G (p.Lys1225Glu) | |
| 14 | g.23419898T>G | CA389043083 | MYH7 | c.3673A>C (p.Lys1225Gln) | |
| 14 | g.23419899G>A | CA485766653 | MYH7 | c.3672C>T (p.Phe1224=) | |
| 14 | g.23419899G>C | CA389043085 | MYH7 | c.3672C>G (p.Phe1224Leu) | ClinVar gnomAD v4 |
| 14 | g.23419899G>T | CA389043086 | MYH7 | c.3672C>A (p.Phe1224Leu) | |
| 14 | g.23419900A>C | CA389043090 | MYH7 | c.3671T>G (p.Phe1224Cys) | |
| 14 | g.23419900A>G | CA389043091 | MYH7 | c.3671T>C (p.Phe1224Ser) | |
| 14 | g.23419900A>T | CA389043088 | MYH7 | c.3671T>A (p.Phe1224Tyr) | |
| 14 | g.23419901A>C | CA389043093 | MYH7 | c.3670T>G (p.Phe1224Val) | |
| 14 | g.23419901A>G | CA389043094 | MYH7 | c.3670T>C (p.Phe1224Leu) | |
| 14 | g.23419901A>T | CA389043095 | MYH7 | c.3670T>A (p.Phe1224Ile) | |
| 14 | g.23419902C>A | CA389043097 | MYH7 | c.3669G>T (p.Glu1223Asp) | |
| 14 | g.23419902C= | CA2123446132 | MYH7 | c.3669G= (p.Glu1223=) | |
| 14 | g.23419902C>G | CA389043098 | MYH7 | c.3669G>C (p.Glu1223Asp) | ClinVar |
| 14 | g.23419902C>T | CA257815403 | MYH7 | c.3669G>A (p.Glu1223=) | ClinVar dbSNP |
| 14 | g.23419903T>A | CA389043103 | MYH7 | c.3668A>T (p.Glu1223Val) | |
| 14 | g.23419903T>C | CA389043102 | MYH7 | c.3668A>G (p.Glu1223Gly) | |
| 14 | g.23419903T>G | CA389043100 | MYH7 | c.3668A>C (p.Glu1223Ala) | |
| 14 | g.23419904del | CA2624231382 | MYH7 | c.3667del (p.Glu1223SerfsTer?) | gnomAD v4 |
| 14 | g.23419904C>A | CA389043104 | MYH7 | c.3667G>T (p.Glu1223Ter) | |
| 14 | g.23419904C= | CA2123446138 | MYH7 | c.3667G= (p.Glu1223=) | |
| 14 | g.23419904C>G | CA389043106 | MYH7 | c.3667G>C (p.Glu1223Gln) | ClinVar dbSNP |
| 14 | g.23419904C>T | CA013954 | MYH7 | c.3667G>A (p.Glu1223Lys) | ClinVar dbSNP |
| 14 | g.23419905G>A | CA013947 | MYH7 | c.3666C>T (p.Ser1222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23419905G>C | CA389043112 | MYH7 | c.3666C>G (p.Ser1222Arg) | |
| 14 | g.23419905G= | CA2123446143 | MYH7 | c.3666C= (p.Ser1222=) | |
| 14 | g.23419905G>T | CA389043113 | MYH7 | c.3666C>A (p.Ser1222Arg) | ClinVar gnomAD v4 |
| 14 | g.23419906C>A | CA389043115 | MYH7 | c.3665G>T (p.Ser1222Ile) | |
| 14 | g.23419906C= | CA2123446145 | MYH7 | c.3665G= (p.Ser1222=) | |
| 14 | g.23419906C>G | CA389043118 | MYH7 | c.3665G>C (p.Ser1222Thr) | |
| 14 | g.23419906C>T | CA389043116 | MYH7 | c.3665G>A (p.Ser1222Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419907T>A | CA038247 | MYH7 | c.3664A>T (p.Ser1222Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419907T>C | CA013937 | MYH7 | c.3664A>G (p.Ser1222Gly) | ClinVar dbSNP |
| 14 | g.23419907T>G | CA389043120 | MYH7 | c.3664A>C (p.Ser1222Arg) | |
| 14 | g.23419907T= | CA2123446151 | MYH7 | c.3664A= (p.Ser1222=) | |
| 14 | g.23419908C>A | CA389043123 | MYH7 | c.3663G>T (p.Lys1221Asn) | |
| 14 | g.23419908C>G | CA389043125 | MYH7 | c.3663G>C (p.Lys1221Asn) | |
| 14 | g.23419908C>T | CA485766654 | MYH7 | c.3663G>A (p.Lys1221=) | |
| 14 | g.23419911_23419912insCCCTTC | CA013931 | MYH7 | c.3663_3664insGGGAAG (p.Lys1221_Ser1222insGlyLys) | ClinVar dbSNP |
| 14 | g.23419909T>A | CA389043126 | MYH7 | c.3662A>T (p.Lys1221Met) | |
| 14 | g.23419909T>C | CA389043127 | MYH7 | c.3662A>G (p.Lys1221Arg) | ClinVar |
| 14 | g.23419909T>G | CA389043128 | MYH7 | c.3662A>C (p.Lys1221Thr) | |
| 14 | g.23419910T>A | CA389043130 | MYH7 | c.3661A>T (p.Lys1221Ter) | |
| 14 | g.23419910T>C | CA389043132 | MYH7 | c.3661A>G (p.Lys1221Glu) | |
| 14 | g.23419910T>G | CA389043133 | MYH7 | c.3661A>C (p.Lys1221Gln) | |
| 14 | g.23419910_23419913delinsTCTC | CA2123446159 | MYH7 | c.3658_3661delinsGAGA (p.Glu1220=) | |
| 14 | g.23419911C>A | CA389043135 | MYH7 | c.3660G>T (p.Glu1220Asp) | |
| 14 | g.23419911C= | CA2123446165 | MYH7 | c.3660G= (p.Glu1220=) | |
| 14 | g.23419911C>G | CA389043136 | MYH7 | c.3660G>C (p.Glu1220Asp) | |
| 14 | g.23419911C>T | CA485766655 | MYH7 | c.3660G>A (p.Glu1220=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419913_23419915del | CA013921 | MYH7 | c.3658_3660del (p.Glu1220del) | ClinVar dbSNP |
| 14 | g.23419912T>A | CA389043138 | MYH7 | c.3659A>T (p.Glu1220Val) | |
| 14 | g.23419912T>C | CA389043142 | MYH7 | c.3659A>G (p.Glu1220Gly) | |
| 14 | g.23419912T>G | CA389043140 | MYH7 | c.3659A>C (p.Glu1220Ala) | |
| 14 | g.23419913C>A | CA389043143 | MYH7 | c.3658G>T (p.Glu1220Ter) | gnomAD v4 |
| 14 | g.23419913C>G | CA389043144 | MYH7 | c.3658G>C (p.Glu1220Gln) | |
| 14 | g.23419913C>T | CA389043146 | MYH7 | c.3658G>A (p.Glu1220Lys) | |
| 14 | g.23419914C>A | CA389043148 | MYH7 | c.3657G>T (p.Lys1219Asn) | |
| 14 | g.23419914C= | CA2123446169 | MYH7 | c.3657G= (p.Lys1219=) | |
| 14 | g.23419914C>G | CA389043149 | MYH7 | c.3657G>C (p.Lys1219Asn) | |
| 14 | g.23419914C>T | CA485766656 | MYH7 | c.3657G>A (p.Lys1219=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419915T>A | CA389043151 | MYH7 | c.3656A>T (p.Lys1219Met) | |
| 14 | g.23419915T>C | CA389043152 | MYH7 | c.3656A>G (p.Lys1219Arg) | |
| 14 | g.23419915T>G | CA389043153 | MYH7 | c.3656A>C (p.Lys1219Thr) | |
| 14 | g.23419916T>A | CA389043155 | MYH7 | c.3655A>T (p.Lys1219Ter) | |
| 14 | g.23419916T>C | CA389043157 | MYH7 | c.3655A>G (p.Lys1219Glu) | |
| 14 | g.23419916T>G | CA389043159 | MYH7 | c.3655A>C (p.Lys1219Gln) | |
| 14 | g.23419917C>A | CA389043160 | MYH7 | c.3654G>T (p.Glu1218Asp) | |
| 14 | g.23419917C= | CA2123446172 | MYH7 | c.3654G= (p.Glu1218=) | |
| 14 | g.23419917C>G | CA389043161 | MYH7 | c.3654G>C (p.Glu1218Asp) | |
| 14 | g.23419917C>T | CA485766657 | MYH7 | c.3654G>A (p.Glu1218=) | ClinVar dbSNP COSMIC |
| 14 | g.23419918T>A | CA389043164 | MYH7 | c.3653A>T (p.Glu1218Val) | |
| 14 | g.23419918T>C | CA389043163 | MYH7 | c.3653A>G (p.Glu1218Gly) | COSMIC |
| 14 | g.23419918T>G | CA389043162 | MYH7 | c.3653A>C (p.Glu1218Ala) | |
| 14 | g.23419919C>A | CA389043165 | MYH7 | c.3652G>T (p.Glu1218Ter) | |
| 14 | g.23419919C= | CA2123446175 | MYH7 | c.3652G= (p.Glu1218=) | |
| 14 | g.23419919C>G | CA389043167 | MYH7 | c.3652G>C (p.Glu1218Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419919C>T | CA389043168 | MYH7 | c.3652G>A (p.Glu1218Lys) | gnomAD v4 |
| 14 | g.23419920C>A | CA485766658 | MYH7 | c.3651G>T (p.Leu1217=) | gnomAD v4 |
| 14 | g.23419920C>G | CA485766659 | MYH7 | c.3651G>C (p.Leu1217=) | |
| 14 | g.23419920C>T | CA485766660 | MYH7 | c.3651G>A (p.Leu1217=) | ClinVar |
| 14 | g.23419921A>C | CA389043170 | MYH7 | c.3650T>G (p.Leu1217Arg) | |
| 14 | g.23419921A>G | CA389043172 | MYH7 | c.3650T>C (p.Leu1217Pro) | |
| 14 | g.23419921A>T | CA389043173 | MYH7 | c.3650T>A (p.Leu1217Gln) | |
| 14 | g.23419922G>A | CA485766661 | MYH7 | c.3649C>T (p.Leu1217=) | |
| 14 | g.23419922G>C | CA389043174 | MYH7 | c.3649C>G (p.Leu1217Val) | |
| 14 | g.23419922G>T | CA389043175 | MYH7 | c.3649C>A (p.Leu1217Met) | |
| 14 | g.23419923C>A | CA389043177 | MYH7 | c.3648G>T (p.Lys1216Asn) | |
| 14 | g.23419923C= | CA2123446179 | MYH7 | c.3648G= (p.Lys1216=) | |
| 14 | g.23419923C>G | CA389043179 | MYH7 | c.3648G>C (p.Lys1216Asn) | |
| 14 | g.23419923C>T | CA485766662 | MYH7 | c.3648G>A (p.Lys1216=) | ClinVar dbSNP COSMIC |
| 14 | g.23419924T>A | CA389043180 | MYH7 | c.3647A>T (p.Lys1216Met) | |
| 14 | g.23419924T>C | CA389043182 | MYH7 | c.3647A>G (p.Lys1216Arg) | |
| 14 | g.23419924T>G | CA389043183 | MYH7 | c.3647A>C (p.Lys1216Thr) | gnomAD v4 |
| 14 | g.23419925T>A | CA389043185 | MYH7 | c.3646A>T (p.Lys1216Ter) | |
| 14 | g.23419925T>C | CA389043186 | MYH7 | c.3646A>G (p.Lys1216Glu) | |
| 14 | g.23419925T>G | CA389043184 | MYH7 | c.3646A>C (p.Lys1216Gln) | |
| 14 | g.23419926C>A | CA389043188 | MYH7 | c.3645G>T (p.Gln1215His) | |
| 14 | g.23419926C= | CA2123446186 | MYH7 | c.3645G= (p.Gln1215=) | |
| 14 | g.23419926C>G | CA279271 | MYH7 | c.3645G>C (p.Gln1215His) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419926C>T | CA485766663 | MYH7 | c.3645G>A (p.Gln1215=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419927T>A | CA389043189 | MYH7 | c.3644A>T (p.Gln1215Leu) | |
| 14 | g.23419927T>C | CA257815434 | MYH7 | c.3644A>G (p.Gln1215Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419927T>G | CA389043191 | MYH7 | c.3644A>C (p.Gln1215Pro) | ClinVar dbSNP |
| 14 | g.23419927T= | CA2123446195 | MYH7 | c.3644A= (p.Gln1215=) | |
| 14 | g.23419928G>A | CA389043193 | MYH7 | c.3643C>T (p.Gln1215Ter) | ClinVar |
| 14 | g.23419928G>C | CA389043195 | MYH7 | c.3643C>G (p.Gln1215Glu) | ClinVar dbSNP |
| 14 | g.23419928G>T | CA389043196 | MYH7 | c.3643C>A (p.Gln1215Lys) | |
| 14 | g.23419929C>A | CA389043197 | MYH7 | c.3642G>T (p.Lys1214Asn) | |
| 14 | g.23419929C>G | CA389043199 | MYH7 | c.3642G>C (p.Lys1214Asn) | dbSNP |
| 14 | g.23419929C>T | CA485766664 | MYH7 | c.3642G>A (p.Lys1214=) | |
| 14 | g.23419930T>A | CA389043201 | MYH7 | c.3641A>T (p.Lys1214Met) | |
| 14 | g.23419930T>C | CA389043202 | MYH7 | c.3641A>G (p.Lys1214Arg) | |
| 14 | g.23419930T>G | CA389043204 | MYH7 | c.3641A>C (p.Lys1214Thr) | |
| 14 | g.23419931T>A | CA389043205 | MYH7 | c.3640A>T (p.Lys1214Ter) | |
| 14 | g.23419931T>C | CA389043209 | MYH7 | c.3640A>G (p.Lys1214Glu) | |
| 14 | g.23419931T>G | CA389043207 | MYH7 | c.3640A>C (p.Lys1214Gln) | |
| 14 | g.23419932C>A | CA485766665 | MYH7 | c.3639G>T (p.Val1213=) | |
| 14 | g.23419932C= | CA2123446199 | MYH7 | c.3639G= (p.Val1213=) | |
| 14 | g.23419932C>G | CA485766666 | MYH7 | c.3639G>C (p.Val1213=) | |
| 14 | g.23419932C>T | CA485766667 | MYH7 | c.3639G>A (p.Val1213=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419933A= | CA2123446203 | MYH7 | c.3638T= (p.Val1213=) | |
| 14 | g.23419933A>C | CA389043210 | MYH7 | c.3638T>G (p.Val1213Gly) | dbSNP |
| 14 | g.23419933A>G | CA389043211 | MYH7 | c.3638T>C (p.Val1213Ala) | |
| 14 | g.23419933A>T | CA389043213 | MYH7 | c.3638T>A (p.Val1213Glu) | |
| 14 | g.23419934C>A | CA389043214 | MYH7 | c.3637G>T (p.Val1213Leu) | |
| 14 | g.23419934C= | CA2123446205 | MYH7 | c.3637G= (p.Val1213=) | |
| 14 | g.23419934C>G | CA389043216 | MYH7 | c.3637G>C (p.Val1213Leu) | |
| 14 | g.23419934C>T | CA013913 | MYH7 | c.3637G>A (p.Val1213Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419935C>A | CA485766668 | MYH7 | c.3636G>T (p.Arg1212=) | |
| 14 | g.23419935C>G | CA485766669 | MYH7 | c.3636G>C (p.Arg1212=) | |
| 14 | g.23419935C>T | CA485766670 | MYH7 | c.3636G>A (p.Arg1212=) | ClinVar dbSNP |
| 14 | g.23419936C>A | CA389043217 | MYH7 | c.3635G>T (p.Arg1212Leu) | |
| 14 | g.23419936C= | CA2123446211 | MYH7 | c.3635G= (p.Arg1212=) | |
| 14 | g.23419936C>G | CA389043218 | MYH7 | c.3635G>C (p.Arg1212Pro) | |
| 14 | g.23419936C>T | CA389043219 | MYH7 | c.3635G>A (p.Arg1212Gln) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419937G>A | CA389043221 | MYH7 | c.3634C>T (p.Arg1212Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23419937G>C | CA389043223 | MYH7 | c.3634C>G (p.Arg1212Gly) | |
| 14 | g.23419937G= | CA2123446213 | MYH7 | c.3634C= (p.Arg1212=) | |
| 14 | g.23419937G>T | CA485766671 | MYH7 | c.3634C>A (p.Arg1212=) | |
| 14 | g.23419938C>A | CA389043225 | MYH7 | c.3633G>T (p.Gln1211His) | |
| 14 | g.23419938C>G | CA389043226 | MYH7 | c.3633G>C (p.Gln1211His) | |
| 14 | g.23419938C>T | CA485766672 | MYH7 | c.3633G>A (p.Gln1211=) | |
| 14 | g.23419939T>A | CA389043227 | MYH7 | c.3632A>T (p.Gln1211Leu) | |
| 14 | g.23419939T>C | CA389043231 | MYH7 | c.3632A>G (p.Gln1211Arg) | |
| 14 | g.23419939T>G | CA389043229 | MYH7 | c.3632A>C (p.Gln1211Pro) | |
| 14 | g.23419940G>A | CA389043232 | MYH7 | c.3631C>T (p.Gln1211Ter) | ClinVar dbSNP |
| 14 | g.23419940G>C | CA389043234 | MYH7 | c.3631C>G (p.Gln1211Glu) | ClinVar dbSNP |
| 14 | g.23419940G= | CA2123446218 | MYH7 | c.3631C= (p.Gln1211=) | |
| 14 | g.23419940G>T | CA389043235 | MYH7 | c.3631C>A (p.Gln1211Lys) | |
| 14 | g.23419941C>A | CA485766673 | MYH7 | c.3630G>T (p.Leu1210=) | |
| 14 | g.23419941C>G | CA485766674 | MYH7 | c.3630G>C (p.Leu1210=) | |
| 14 | g.23419941C>T | CA485766675 | MYH7 | c.3630G>A (p.Leu1210=) | ClinVar |
| 14 | g.23419942del | CA2575504281 | MYH7 | c.3629del (p.Leu1210ArgfsTer4) | |
| 14 | g.23419942A>C | CA389043237 | MYH7 | c.3629T>G (p.Leu1210Arg) | |
| 14 | g.23419942A>G | CA389043238 | MYH7 | c.3629T>C (p.Leu1210Pro) | |
| 14 | g.23419942A>T | CA389043240 | MYH7 | c.3629T>A (p.Leu1210Gln) | |
| 14 | g.23419943G>A | CA038206 | MYH7 | c.3628C>T (p.Leu1210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419943G>C | CA389043242 | MYH7 | c.3628C>G (p.Leu1210Val) | |
| 14 | g.23419943G= | CA2123446221 | MYH7 | c.3628C= (p.Leu1210=) | |
| 14 | g.23419943G>T | CA389043243 | MYH7 | c.3628C>A (p.Leu1210Met) | |
| 14 | g.23419944G>A | CA485766676 | MYH7 | c.3627C>T (p.Asn1209=) | ClinVar gnomAD v4 |
| 14 | g.23419944G>C | CA013908 | MYH7 | c.3627C>G (p.Asn1209Lys) | ClinVar dbSNP |
| 14 | g.23419944G= | CA2123446224 | MYH7 | c.3627C= (p.Asn1209=) | |
| 14 | g.23419944G>T | CA389043244 | MYH7 | c.3627C>A (p.Asn1209Lys) | |
| 14 | g.23419945T>A | CA389043247 | MYH7 | c.3626A>T (p.Asn1209Ile) | |
| 14 | g.23419945T>C | CA013898 | MYH7 | c.3626A>G (p.Asn1209Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419945T>G | CA038184 | MYH7 | c.3626A>C (p.Asn1209Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419945T= | CA2123446233 | MYH7 | c.3626A= (p.Asn1209=) | |
| 14 | g.23419946T>A | CA389043248 | MYH7 | c.3625A>T (p.Asn1209Tyr) | |
| 14 | g.23419946T>C | CA389043249 | MYH7 | c.3625A>G (p.Asn1209Asp) | |
| 14 | g.23419946T>G | CA389043251 | MYH7 | c.3625A>C (p.Asn1209His) | |
| 14 | g.23419947G>A | CA485766677 | MYH7 | c.3624C>T (p.Asp1208=) | |
| 14 | g.23419947G>C | CA389043252 | MYH7 | c.3624C>G (p.Asp1208Glu) | |
| 14 | g.23419947G>T | CA389043254 | MYH7 | c.3624C>A (p.Asp1208Glu) | |
| 14 | g.23419948T>A | CA389043256 | MYH7 | c.3623A>T (p.Asp1208Val) | |
| 14 | g.23419948T>C | CA389043257 | MYH7 | c.3623A>G (p.Asp1208Gly) | |
| 14 | g.23419948T>G | CA389043259 | MYH7 | c.3623A>C (p.Asp1208Ala) | |
| 14 | g.23419949C>A | CA389043260 | MYH7 | c.3622G>T (p.Asp1208Tyr) | |
| 14 | g.23419949C= | CA2123446236 | MYH7 | c.3622G= (p.Asp1208=) | |
| 14 | g.23419949C>G | CA013891 | MYH7 | c.3622G>C (p.Asp1208His) | ClinVar dbSNP ExAC gnomAD v2 |
| 14 | g.23419949C>T | CA079535 | MYH7 | c.3622G>A (p.Asp1208Asn) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419950G>A | CA013881 | MYH7 | c.3621C>T (p.Ile1207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23419950G>C | CA038128 | MYH7 | c.3621C>G (p.Ile1207Met) | ClinVar dbSNP ExAC gnomAD v4 |
| 14 | g.23419950G= | CA2123446245 | MYH7 | c.3621C= (p.Ile1207=) | |
| 14 | g.23419950G>T | CA038110 | MYH7 | c.3621C>A (p.Ile1207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419951A= | CA2123446264 | MYH7 | c.3620T= (p.Ile1207=) | |
| 14 | g.23419951A>C | CA389043265 | MYH7 | c.3620T>G (p.Ile1207Ser) | |
| 14 | g.23419951A>G | CA389043267 | MYH7 | c.3620T>C (p.Ile1207Thr) | |
| 14 | g.23419951A>T | CA013873 | MYH7 | c.3620T>A (p.Ile1207Asn) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419952T>A | CA389043270 | MYH7 | c.3619A>T (p.Ile1207Phe) | gnomAD v4 |
| 14 | g.23419952T>C | CA389043271 | MYH7 | c.3619A>G (p.Ile1207Val) | |
| 14 | g.23419952T>G | CA389043272 | MYH7 | c.3619A>C (p.Ile1207Leu) | |
| 14 | g.23419953C>A | CA389043273 | MYH7 | c.3618G>T (p.Gln1206His) | |
| 14 | g.23419953C= | CA2123446269 | MYH7 | c.3618G= (p.Gln1206=) | |
| 14 | g.23419953C>G | CA389043275 | MYH7 | c.3618G>C (p.Gln1206His) | |
| 14 | g.23419953C>T | CA485766678 | MYH7 | c.3618G>A (p.Gln1206=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419954T>A | CA389043277 | MYH7 | c.3617A>T (p.Gln1206Leu) | |
| 14 | g.23419954T>C | CA038093 | MYH7 | c.3617A>G (p.Gln1206Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419954T>G | CA389043281 | MYH7 | c.3617A>C (p.Gln1206Pro) | |
| 14 | g.23419954T= | CA2123446271 | MYH7 | c.3617A= (p.Gln1206=) | |
| 14 | g.23419955G>A | CA389043283 | MYH7 | c.3616C>T (p.Gln1206Ter) | gnomAD v4 |
| 14 | g.23419955G>C | CA389043285 | MYH7 | c.3616C>G (p.Gln1206Glu) | |
| 14 | g.23419955G>T | CA389043287 | MYH7 | c.3616C>A (p.Gln1206Lys) | |
| 14 | g.23419956C>A | CA389043288 | MYH7 | c.3615G>T (p.Glu1205Asp) | |
| 14 | g.23419956C>G | CA389043289 | MYH7 | c.3615G>C (p.Glu1205Asp) | |
| 14 | g.23419956C>T | CA485766679 | MYH7 | c.3615G>A (p.Glu1205=) |