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.23419488T>A | CA389041876 | MYH7 | c.3848A>T (p.Glu1283Val) | |
| 14 | g.23419488T>C | CA389041878 | MYH7 | c.3848A>G (p.Glu1283Gly) | |
| 14 | g.23419488T>G | CA389041879 | MYH7 | c.3848A>C (p.Glu1283Ala) | |
| 14 | g.23419489C>A | CA389041880 | MYH7 | c.3847G>T (p.Glu1283Ter) | |
| 14 | g.23419489C= | CA2123445074 | MYH7 | c.3847G= (p.Glu1283=) | |
| 14 | g.23419489C>G | CA389041882 | MYH7 | c.3847G>C (p.Glu1283Gln) | ClinVar |
| 14 | g.23419489C>T | CA389041884 | MYH7 | c.3847G>A (p.Glu1283Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23419490G>A | CA485620332 | MYH7 | c.3846C>T (p.Thr1282=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419490G>C | CA257814940 | MYH7 | c.3846C>G (p.Thr1282=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419490G= | CA2123445081 | MYH7 | c.3846C= (p.Thr1282=) | |
| 14 | g.23419490G>T | CA485620334 | MYH7 | c.3846C>A (p.Thr1282=) | ClinVar dbSNP |
| 14 | g.23419490_23419498del | CA2800863570 | MYH7 | c.3838_3846del (p.Leu1280_Thr1282del) | |
| 14 | g.23419491G>A | CA389041886 | MYH7 | c.3845C>T (p.Thr1282Ile) | gnomAD v4 |
| 14 | g.23419491G>C | CA389041887 | MYH7 | c.3845C>G (p.Thr1282Ser) | |
| 14 | g.23419491G>T | CA389041889 | MYH7 | c.3845C>A (p.Thr1282Asn) | |
| 14 | g.23419492T>A | CA389041892 | MYH7 | c.3844A>T (p.Thr1282Ser) | |
| 14 | g.23419492T>C | CA389041894 | MYH7 | c.3844A>G (p.Thr1282Ala) | gnomAD v4 |
| 14 | g.23419492T>G | CA389041891 | MYH7 | c.3844A>C (p.Thr1282Pro) | |
| 14 | g.23419492T= | CA2123445088 | MYH7 | c.3844A= (p.Thr1282=) | |
| 14 | g.23419493T>A | CA389041897 | MYH7 | c.3843A>T (p.Gln1281His) | ClinVar gnomAD v4 |
| 14 | g.23419493T>C | CA485620346 | MYH7 | c.3843A>G (p.Gln1281=) | dbSNP |
| 14 | g.23419493T>G | CA389041895 | MYH7 | c.3843A>C (p.Gln1281His) | gnomAD v4 |
| 14 | g.23419493T= | CA2123445092 | MYH7 | c.3843A= (p.Gln1281=) | |
| 14 | g.23419494T>A | CA389041901 | MYH7 | c.3842A>T (p.Gln1281Leu) | |
| 14 | g.23419494T>C | CA389041899 | MYH7 | c.3842A>G (p.Gln1281Arg) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419494T>G | CA389041900 | MYH7 | c.3842A>C (p.Gln1281Pro) | |
| 14 | g.23419495G>A | CA389041904 | MYH7 | c.3841C>T (p.Gln1281Ter) | |
| 14 | g.23419495G>C | CA389041906 | MYH7 | c.3841C>G (p.Gln1281Glu) | |
| 14 | g.23419495G>T | CA389041907 | MYH7 | c.3841C>A (p.Gln1281Lys) | |
| 14 | g.23419496C>A | CA389041908 | MYH7 | c.3840G>T (p.Leu1280Phe) | |
| 14 | g.23419496C>G | CA389041910 | MYH7 | c.3840G>C (p.Leu1280Phe) | |
| 14 | g.23419496C>T | CA485620360 | MYH7 | c.3840G>A (p.Leu1280=) | |
| 14 | g.23419497A>C | CA389041912 | MYH7 | c.3839T>G (p.Leu1280Trp) | |
| 14 | g.23419497A>G | CA389041918 | MYH7 | c.3839T>C (p.Leu1280Ser) | |
| 14 | g.23419497A>T | CA389041916 | MYH7 | c.3839T>A (p.Leu1280Ter) | |
| 14 | g.23419498A= | CA2123445094 | MYH7 | c.3838T= (p.Leu1280=) | |
| 14 | g.23419498A>C | CA389041920 | MYH7 | c.3838T>G (p.Leu1280Val) | |
| 14 | g.23419498A>G | CA485620366 | MYH7 | c.3838T>C (p.Leu1280=) | dbSNP |
| 14 | g.23419498A>T | CA389041921 | MYH7 | c.3838T>A (p.Leu1280Met) | |
| 14 | g.23419499C>A | CA389041923 | MYH7 | c.3837G>T (p.Lys1279Asn) | |
| 14 | g.23419499C>G | CA389041925 | MYH7 | c.3837G>C (p.Lys1279Asn) | ClinVar dbSNP |
| 14 | g.23419499C>T | CA485620369 | MYH7 | c.3837G>A (p.Lys1279=) | |
| 14 | g.23419500T>A | CA389041926 | MYH7 | c.3836A>T (p.Lys1279Met) | |
| 14 | g.23419500T>C | CA389041929 | MYH7 | c.3836A>G (p.Lys1279Arg) | dbSNP gnomAD v2 |
| 14 | g.23419500T>G | CA389041927 | MYH7 | c.3836A>C (p.Lys1279Thr) | |
| 14 | g.23419500T= | CA2123445098 | MYH7 | c.3836A= (p.Lys1279=) | |
| 14 | g.23419501T>A | CA389041931 | MYH7 | c.3835A>T (p.Lys1279Ter) | |
| 14 | g.23419501T>C | CA389041932 | MYH7 | c.3835A>G (p.Lys1279Glu) | |
| 14 | g.23419501T>G | CA389041934 | MYH7 | c.3835A>C (p.Lys1279Gln) | |
| 14 | g.23419502G>A | CA485620378 | MYH7 | c.3834C>T (p.Ala1278=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419502G>C | CA485620379 | MYH7 | c.3834C>G (p.Ala1278=) | |
| 14 | g.23419502G= | CA2123445106 | MYH7 | c.3834C= (p.Ala1278=) | |
| 14 | g.23419502G>T | CA485620381 | MYH7 | c.3834C>A (p.Ala1278=) | |
| 14 | g.23419502_23419506delinsGGCCC | CA2123445102 | MYH7 | c.3830_3834delinsGGGCC (p.Arg1277=) | |
| 14 | g.23419503G>A | CA389041936 | MYH7 | c.3833C>T (p.Ala1278Val) | |
| 14 | g.23419503G>C | CA389041938 | MYH7 | c.3833C>G (p.Ala1278Gly) | |
| 14 | g.23419503G= | CA2123445112 | MYH7 | c.3833C= (p.Ala1278=) | |
| 14 | g.23419503G>T | CA389041939 | MYH7 | c.3833C>A (p.Ala1278Asp) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419505_23419508del | CA039054 | MYH7 | c.3830_3833del (p.Arg1277ProfsTer20) | dbSNP ExAC gnomAD v4 |
| 14 | g.23419504C>A | CA389041941 | MYH7 | c.3832G>T (p.Ala1278Ser) | dbSNP |
| 14 | g.23419504C= | CA2123445115 | MYH7 | c.3832G= (p.Ala1278=) | |
| 14 | g.23419504C>G | CA389041943 | MYH7 | c.3832G>C (p.Ala1278Pro) | |
| 14 | g.23419504C>T | CA389041944 | MYH7 | c.3832G>A (p.Ala1278Thr) | gnomAD v4 |
| 14 | g.23419505C>A | CA485620391 | MYH7 | c.3831G>T (p.Arg1277=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419505C= | CA2123445116 | MYH7 | c.3831G= (p.Arg1277=) | |
| 14 | g.23419505C>G | CA485620393 | MYH7 | c.3831G>C (p.Arg1277=) | |
| 14 | g.23419505C>T | CA485620400 | MYH7 | c.3831G>A (p.Arg1277=) | |
| 14 | g.23419506C>A | CA389041946 | MYH7 | c.3830G>T (p.Arg1277Leu) | dbSNP |
| 14 | g.23419506C= | CA2123445123 | MYH7 | c.3830G= (p.Arg1277=) | |
| 14 | g.23419506C>G | CA070665 | MYH7 | c.3830G>C (p.Arg1277Pro) | ClinVar dbSNP |
| 14 | g.23419506C>T | CA014144 | MYH7 | c.3830G>A (p.Arg1277Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23419507G>A | CA039045 | MYH7 | c.3829C>T (p.Arg1277Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23419507G>C | CA389041949 | MYH7 | c.3829C>G (p.Arg1277Gly) | |
| 14 | g.23419507G= | CA2123445133 | MYH7 | c.3829C= (p.Arg1277=) | |
| 14 | g.23419507G>T | CA014138 | MYH7 | c.3829C>A (p.Arg1277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419508C>A | CA389041951 | MYH7 | c.3828G>T (p.Gln1276His) | |
| 14 | g.23419508C= | CA2123445164 | MYH7 | c.3828G= (p.Gln1276=) | |
| 14 | g.23419508C>G | CA389041953 | MYH7 | c.3828G>C (p.Gln1276His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419508C>T | CA485620409 | MYH7 | c.3828G>A (p.Gln1276=) | |
| 14 | g.23419509T>A | CA389041955 | MYH7 | c.3827A>T (p.Gln1276Leu) | |
| 14 | g.23419509T>C | CA389041956 | MYH7 | c.3827A>G (p.Gln1276Arg) | |
| 14 | g.23419509T>G | CA389041958 | MYH7 | c.3827A>C (p.Gln1276Pro) | |
| 14 | g.23419510G>A | CA389041959 | MYH7 | c.3826C>T (p.Gln1276Ter) | |
| 14 | g.23419510G>C | CA389041960 | MYH7 | c.3826C>G (p.Gln1276Glu) | |
| 14 | g.23419510G>T | CA389041961 | MYH7 | c.3826C>A (p.Gln1276Lys) | |
| 14 | g.23419511G>A | CA485620420 | MYH7 | c.3825C>T (p.Ser1275=) | |
| 14 | g.23419511G>C | CA389041963 | MYH7 | c.3825C>G (p.Ser1275Arg) | ClinVar gnomAD v4 |
| 14 | g.23419511G>T | CA389041965 | MYH7 | c.3825C>A (p.Ser1275Arg) | |
| 14 | g.23419512C>A | CA389041968 | MYH7 | c.3824G>T (p.Ser1275Ile) | |
| 14 | g.23419512C= | CA2123445170 | MYH7 | c.3824G= (p.Ser1275=) | |
| 14 | g.23419512C>G | CA389041966 | MYH7 | c.3824G>C (p.Ser1275Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23419512C>T | CA389041967 | MYH7 | c.3824G>A (p.Ser1275Asn) | |
| 14 | g.23419512_23419524delinsCTGGTGAGGTCGT | CA2123445174 | MYH7 | c.3812_3824delinsACGACCTCACCAG (p.Asn1271=) | |
| 14 | g.23419513T>A | CA389041969 | MYH7 | c.3823A>T (p.Ser1275Cys) | COSMIC |
| 14 | g.23419513T>C | CA389041970 | MYH7 | c.3823A>G (p.Ser1275Gly) | |
| 14 | g.23419513T>G | CA014129 | MYH7 | c.3823A>C (p.Ser1275Arg) | ClinVar dbSNP |
| 14 | g.23419513T= | CA2123445185 | MYH7 | c.3823A= (p.Ser1275=) | |
| 14 | g.23419515_23419526del | CA658798189 | MYH7 | c.3812_3823del (p.Asn1271_Thr1274del) | ClinVar dbSNP |
| 14 | g.23419514G>A | CA485620431 | MYH7 | c.3822C>T (p.Thr1274=) | |
| 14 | g.23419514G>C | CA485620433 | MYH7 | c.3822C>G (p.Thr1274=) | |
| 14 | g.23419514G>T | CA485620435 | MYH7 | c.3822C>A (p.Thr1274=) | |
| 14 | g.23419515G>A | CA389041972 | MYH7 | c.3821C>T (p.Thr1274Ile) | gnomAD v4 |
| 14 | g.23419515G>C | CA389041974 | MYH7 | c.3821C>G (p.Thr1274Ser) | |
| 14 | g.23419515G= | CA2123445189 | MYH7 | c.3821C= (p.Thr1274=) | |
| 14 | g.23419515G>T | CA389041976 | MYH7 | c.3821C>A (p.Thr1274Asn) | dbSNP |
| 14 | g.23419516T>A | CA389041977 | MYH7 | c.3820A>T (p.Thr1274Ser) | |
| 14 | g.23419516T>C | CA389041978 | MYH7 | c.3820A>G (p.Thr1274Ala) | |
| 14 | g.23419516T>G | CA389041980 | MYH7 | c.3820A>C (p.Thr1274Pro) | dbSNP gnomAD v2 |
| 14 | g.23419516T= | CA2123445193 | MYH7 | c.3820A= (p.Thr1274=) | |
| 14 | g.23419517G>A | CA485620444 | MYH7 | c.3819C>T (p.Leu1273=) | ClinVar dbSNP |
| 14 | g.23419517G>C | CA485620448 | MYH7 | c.3819C>G (p.Leu1273=) | |
| 14 | g.23419517G>T | CA485620446 | MYH7 | c.3819C>A (p.Leu1273=) | gnomAD v4 |
| 14 | g.23419518A>C | CA389041982 | MYH7 | c.3818T>G (p.Leu1273Arg) | |
| 14 | g.23419518A>G | CA389041984 | MYH7 | c.3818T>C (p.Leu1273Pro) | |
| 14 | g.23419518A>T | CA389041985 | MYH7 | c.3818T>A (p.Leu1273His) | |
| 14 | g.23419519G>A | CA389041990 | MYH7 | c.3817C>T (p.Leu1273Phe) | dbSNP gnomAD v4 |
| 14 | g.23419519G>C | CA389041988 | MYH7 | c.3817C>G (p.Leu1273Val) | |
| 14 | g.23419519G>T | CA389041986 | MYH7 | c.3817C>A (p.Leu1273Ile) | |
| 14 | g.23419520G>A | CA485620454 | MYH7 | c.3816C>T (p.Asp1272=) | |
| 14 | g.23419520G>C | CA389041993 | MYH7 | c.3816C>G (p.Asp1272Glu) | |
| 14 | g.23419520G>T | CA389041991 | MYH7 | c.3816C>A (p.Asp1272Glu) | |
| 14 | g.23419522_23419524del | CA2739277789 | MYH7 | c.3814_3816del (p.Asp1272del) | ClinVar |
| 14 | g.23419521T>A | CA389041996 | MYH7 | c.3815A>T (p.Asp1272Val) | |
| 14 | g.23419521T>C | CA389041994 | MYH7 | c.3815A>G (p.Asp1272Gly) | |
| 14 | g.23419521T>G | CA389041995 | MYH7 | c.3815A>C (p.Asp1272Ala) | dbSNP |
| 14 | g.23419521T= | CA2123445198 | MYH7 | c.3815A= (p.Asp1272=) | |
| 14 | g.23419522C>A | CA389041997 | MYH7 | c.3814G>T (p.Asp1272Tyr) | |
| 14 | g.23419522C= | CA2123445203 | MYH7 | c.3814G= (p.Asp1272=) | |
| 14 | g.23419522C>G | CA389041999 | MYH7 | c.3814G>C (p.Asp1272His) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419522C>T | CA014120 | MYH7 | c.3814G>A (p.Asp1272Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23419523G>A | CA039023 | MYH7 | c.3813C>T (p.Asn1271=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23419523G>C | CA389042001 | MYH7 | c.3813C>G (p.Asn1271Lys) | |
| 14 | g.23419523G= | CA2123445209 | MYH7 | c.3813C= (p.Asn1271=) | |
| 14 | g.23419523G>T | CA389042003 | MYH7 | c.3813C>A (p.Asn1271Lys) | |
| 14 | g.23419524T>A | CA389042005 | MYH7 | c.3812A>T (p.Asn1271Ile) | |
| 14 | g.23419524T>C | CA014115 | MYH7 | c.3812A>G (p.Asn1271Ser) | ClinVar dbSNP |
| 14 | g.23419524T>G | CA389042007 | MYH7 | c.3812A>C (p.Asn1271Thr) | COSMIC |
| 14 | g.23419524T= | CA2123445213 | MYH7 | c.3812A= (p.Asn1271=) | |
| 14 | g.23419525T>A | CA389042012 | MYH7 | c.3811A>T (p.Asn1271Tyr) | gnomAD v4 |
| 14 | g.23419525T>C | CA389042010 | MYH7 | c.3811A>G (p.Asn1271Asp) | |
| 14 | g.23419525T>G | CA389042009 | MYH7 | c.3811A>C (p.Asn1271His) | |
| 14 | g.23419526G>A | CA485620477 | MYH7 | c.3810C>T (p.Val1270=) | dbSNP |
| 14 | g.23419526G>C | CA485620479 | MYH7 | c.3810C>G (p.Val1270=) | |
| 14 | g.23419526G= | CA2123445220 | MYH7 | c.3810C= (p.Val1270=) | |
| 14 | g.23419526G>T | CA485620480 | MYH7 | c.3810C>A (p.Val1270=) | ClinVar gnomAD v4 |
| 14 | g.23419527A= | CA2123445222 | MYH7 | c.3809T= (p.Val1270=) | |
| 14 | g.23419527A>C | CA389042013 | MYH7 | c.3809T>G (p.Val1270Gly) | |
| 14 | g.23419527A>G | CA039008 | MYH7 | c.3809T>C (p.Val1270Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419527A>T | CA389042014 | MYH7 | c.3809T>A (p.Val1270Asp) | |
| 14 | g.23419528C>A | CA389042017 | MYH7 | c.3808G>T (p.Val1270Phe) | gnomAD v4 |
| 14 | g.23419528C>G | CA389042018 | MYH7 | c.3808G>C (p.Val1270Leu) | ClinVar |
| 14 | g.23419528C>T | CA389042020 | MYH7 | c.3808G>A (p.Val1270Ile) | |
| 14 | g.23419529A= | CA2123445231 | MYH7 | c.3807T= (p.Ser1269=) | |
| 14 | g.23419529A>C | CA485620490 | MYH7 | c.3807T>G (p.Ser1269=) | |
| 14 | g.23419529A>G | CA485620491 | MYH7 | c.3807T>C (p.Ser1269=) | ClinVar dbSNP |
| 14 | g.23419529A>T | CA485620494 | MYH7 | c.3807T>A (p.Ser1269=) | |
| 14 | g.23419530G>A | CA389042021 | MYH7 | c.3806C>T (p.Ser1269Phe) | |
| 14 | g.23419530G>C | CA389042022 | MYH7 | c.3806C>G (p.Ser1269Cys) | |
| 14 | g.23419530G>T | CA389042023 | MYH7 | c.3806C>A (p.Ser1269Tyr) | |
| 14 | g.23419531A>C | CA389042025 | MYH7 | c.3805T>G (p.Ser1269Ala) | |
| 14 | g.23419531A>G | CA389042027 | MYH7 | c.3805T>C (p.Ser1269Pro) | |
| 14 | g.23419531A>T | CA389042028 | MYH7 | c.3805T>A (p.Ser1269Thr) | |
| 14 | g.23419532A= | CA2123445240 | MYH7 | c.3804T= (p.Arg1268=) | |
| 14 | g.23419532A>C | CA485620507 | MYH7 | c.3804T>G (p.Arg1268=) | |
| 14 | g.23419532A>G | CA485620503 | MYH7 | c.3804T>C (p.Arg1268=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419532A>T | CA485620505 | MYH7 | c.3804T>A (p.Arg1268=) | |
| 14 | g.23419533C>A | CA389042030 | MYH7 | c.3803G>T (p.Arg1268Leu) | |
| 14 | g.23419533C= | CA2123445249 | MYH7 | c.3803G= (p.Arg1268=) | |
| 14 | g.23419533C>G | CA014107 | MYH7 | c.3803G>C (p.Arg1268Pro) | ClinVar dbSNP |
| 14 | g.23419533C>T | CA014102 | MYH7 | c.3803G>A (p.Arg1268His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419534G>A | CA389042033 | MYH7 | c.3802C>T (p.Arg1268Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23419534G>C | CA389042034 | MYH7 | c.3802C>G (p.Arg1268Gly) | |
| 14 | g.23419534G= | CA2123445265 | MYH7 | c.3802C= (p.Arg1268=) | |
| 14 | g.23419534G>T | CA389042035 | MYH7 | c.3802C>A (p.Arg1268Ser) | gnomAD v4 |
| 14 | g.23419535C>A | CA389042037 | MYH7 | c.3801G>T (p.Gln1267His) | |
| 14 | g.23419535C= | CA2123445278 | MYH7 | c.3801G= (p.Gln1267=) | |
| 14 | g.23419535C>G | CA038976 | MYH7 | c.3801G>C (p.Gln1267His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419535C>T | CA16606534 | MYH7 | c.3801G>A (p.Gln1267=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23419536T>A | CA389042042 | MYH7 | c.3800A>T (p.Gln1267Leu) | |
| 14 | g.23419536T>C | CA389042041 | MYH7 | c.3800A>G (p.Gln1267Arg) | |
| 14 | g.23419536T>G | CA389042040 | MYH7 | c.3800A>C (p.Gln1267Pro) | |
| 14 | g.23419537G>A | CA389042043 | MYH7 | c.3799C>T (p.Gln1267Ter) | ClinVar dbSNP |
| 14 | g.23419537G>C | CA389042045 | MYH7 | c.3799C>G (p.Gln1267Glu) | |
| 14 | g.23419537G>T | CA389042047 | MYH7 | c.3799C>A (p.Gln1267Lys) | |
| 14 | g.23419538G>A | CA485620523 | MYH7 | c.3798C>T (p.Thr1266=) | gnomAD v4 |
| 14 | g.23419538G>C | CA485620524 | MYH7 | c.3798C>G (p.Thr1266=) | ClinVar |
| 14 | g.23419538G= | CA2123445282 | MYH7 | c.3798C= (p.Thr1266=) | |
| 14 | g.23419538G>T | CA485620526 | MYH7 | c.3798C>A (p.Thr1266=) | dbSNP |
| 14 | g.23419539G>A | CA389042049 | MYH7 | c.3797C>T (p.Thr1266Ile) | ClinVar |
| 14 | g.23419539G>C | CA389042050 | MYH7 | c.3797C>G (p.Thr1266Ser) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419539G= | CA2123445288 | MYH7 | c.3797C= (p.Thr1266=) | |
| 14 | g.23419539G>T | CA038945 | MYH7 | c.3797C>A (p.Thr1266Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419540T>A | CA389042051 | MYH7 | c.3796A>T (p.Thr1266Ser) | |
| 14 | g.23419540T>C | CA389042054 | MYH7 | c.3796A>G (p.Thr1266Ala) | gnomAD v4 |
| 14 | g.23419540T>G | CA389042053 | MYH7 | c.3796A>C (p.Thr1266Pro) | dbSNP |
| 14 | g.23419540T= | CA2123445294 | MYH7 | c.3796A= (p.Thr1266=) | |
| 14 | g.23419541C>A | CA389042056 | MYH7 | c.3795G>T (p.Glu1265Asp) | |
| 14 | g.23419541C>G | CA389042057 | MYH7 | c.3795G>C (p.Glu1265Asp) | |
| 14 | g.23419541C>T | CA485620532 | MYH7 | c.3795G>A (p.Glu1265=) | ClinVar dbSNP |
| 14 | g.23419542T>A | CA389042058 | MYH7 | c.3794A>T (p.Glu1265Val) | |
| 14 | g.23419542T>C | CA389042060 | MYH7 | c.3794A>G (p.Glu1265Gly) | |
| 14 | g.23419542T>G | CA389042062 | MYH7 | c.3794A>C (p.Glu1265Ala) | |
| 14 | g.23419543C>A | CA389042064 | MYH7 | c.3793G>T (p.Glu1265Ter) | |
| 14 | g.23419543C>G | CA389042065 | MYH7 | c.3793G>C (p.Glu1265Gln) | |
| 14 | g.23419543C>T | CA389042066 | MYH7 | c.3793G>A (p.Glu1265Lys) | COSMIC |
| 14 | g.23419544C>A | CA389042068 | MYH7 | c.3792G>T (p.Glu1264Asp) | |
| 14 | g.23419544C>G | CA389042070 | MYH7 | c.3792G>C (p.Glu1264Asp) | |
| 14 | g.23419544C>T | CA485620538 | MYH7 | c.3792G>A (p.Glu1264=) | |
| 14 | g.23419545T>A | CA389042072 | MYH7 | c.3791A>T (p.Glu1264Val) | |
| 14 | g.23419545T>C | CA389042073 | MYH7 | c.3791A>G (p.Glu1264Gly) | |
| 14 | g.23419545T>G | CA389042074 | MYH7 | c.3791A>C (p.Glu1264Ala) | |
| 14 | g.23419546C>A | CA389042078 | MYH7 | c.3790G>T (p.Glu1264Ter) | |
| 14 | g.23419546C>G | CA389042080 | MYH7 | c.3790G>C (p.Glu1264Gln) | |
| 14 | g.23419546C>T | CA389042076 | MYH7 | c.3790G>A (p.Glu1264Lys) | |
| 14 | g.23419547del | CA2573149837 | MYH7 | c.3790del (p.Glu1264ArgfsTer?) | ClinVar dbSNP |
| 14 | g.23419547C>A | CA038913 | MYH7 | c.3789G>T (p.Ala1263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419547C= | CA2123445304 | MYH7 | c.3789G= (p.Ala1263=) | |
| 14 | g.23419547C>G | CA038905 | MYH7 | c.3789G>C (p.Ala1263=) | dbSNP ExAC gnomAD v2 |
| 14 | g.23419547C>T | CA038883 | MYH7 | c.3789G>A (p.Ala1263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23419548G>A | CA389042619 | MYH7 | c.3788C>T (p.Ala1263Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23419548G>C | CA389042621 | MYH7 | c.3788C>G (p.Ala1263Gly) | |
| 14 | g.23419548G= | CA2123445325 | MYH7 | c.3788C= (p.Ala1263=) | |
| 14 | g.23419548G>T | CA038858 | MYH7 | c.3788C>A (p.Ala1263Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419549C>A | CA389042626 | MYH7 | c.3787G>T (p.Ala1263Ser) | |
| 14 | g.23419549C= | CA2123445331 | MYH7 | c.3787G= (p.Ala1263=) | |
| 14 | g.23419549C>G | CA389042624 | MYH7 | c.3787G>C (p.Ala1263Pro) | |
| 14 | g.23419549C>T | CA389042623 | MYH7 | c.3787G>A (p.Ala1263Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419550C>A | CA389042628 | MYH7 | c.3786G>T (p.Lys1262Asn) | |
| 14 | g.23419550C= | CA2123445339 | MYH7 | c.3786G= (p.Lys1262=) | |
| 14 | g.23419550C>G | CA389042630 | MYH7 | c.3786G>C (p.Lys1262Asn) | |
| 14 | g.23419550C>T | CA257815010 | MYH7 | c.3786G>A (p.Lys1262=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419551T>A | CA389042631 | MYH7 | c.3785A>T (p.Lys1262Met) | |
| 14 | g.23419551T>C | CA389042633 | MYH7 | c.3785A>G (p.Lys1262Arg) | |
| 14 | g.23419551T>G | CA389042635 | MYH7 | c.3785A>C (p.Lys1262Thr) | |
| 14 | g.23419552T>A | CA389042639 | MYH7 | c.3784A>T (p.Lys1262Ter) | |
| 14 | g.23419552T>C | CA389042636 | MYH7 | c.3784A>G (p.Lys1262Glu) | gnomAD v4 |
| 14 | g.23419552T>G | CA389042637 | MYH7 | c.3784A>C (p.Lys1262Gln) | |
| 14 | g.23419553G>A | CA485766377 | MYH7 | c.3783C>T (p.Ser1261=) | gnomAD v4 |
| 14 | g.23419553G>C | CA389042641 | MYH7 | c.3783C>G (p.Ser1261Arg) | ClinVar dbSNP |
| 14 | g.23419553G= | CA2123445347 | MYH7 | c.3783C= (p.Ser1261=) | |
| 14 | g.23419553G>T | CA389042643 | MYH7 | c.3783C>A (p.Ser1261Arg) | |
| 14 | g.23419554C>A | CA389042644 | MYH7 | c.3782G>T (p.Ser1261Ile) | |
| 14 | g.23419554C= | CA2123445352 | MYH7 | c.3782G= (p.Ser1261=) | |
| 14 | g.23419554C>G | CA389042645 | MYH7 | c.3782G>C (p.Ser1261Thr) | gnomAD v4 |
| 14 | g.23419554C>T | CA038835 | MYH7 | c.3782G>A (p.Ser1261Asn) | dbSNP ExAC gnomAD v2 COSMIC |
| 14 | g.23419555T>A | CA389042648 | MYH7 | c.3781A>T (p.Ser1261Cys) | |
| 14 | g.23419555T>C | CA389042649 | MYH7 | c.3781A>G (p.Ser1261Gly) | |
| 14 | g.23419555T>G | CA014093 | MYH7 | c.3781A>C (p.Ser1261Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23419555T= | CA2123445358 | MYH7 | c.3781A= (p.Ser1261=) | |
| 14 | g.23419556C>A | CA485766382 | MYH7 | c.3780G>T (p.Arg1260=) | |
| 14 | g.23419556C>G | CA485766383 | MYH7 | c.3780G>C (p.Arg1260=) | |
| 14 | g.23419556C>T | CA485766384 | MYH7 | c.3780G>A (p.Arg1260=) | |
| 14 | g.23419557C>A | CA389042651 | MYH7 | c.3779G>T (p.Arg1260Leu) | gnomAD v4 |
| 14 | g.23419557C= | CA2123445368 | MYH7 | c.3779G= (p.Arg1260=) | |
| 14 | g.23419557C>G | CA014087 | MYH7 | c.3779G>C (p.Arg1260Pro) | ClinVar dbSNP |
| 14 | g.23419557C>T | CA038820 | MYH7 | c.3779G>A (p.Arg1260Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419558G>A | CA038804 | MYH7 | c.3778C>T (p.Arg1260Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23419558G>C | CA389042654 | MYH7 | c.3778C>G (p.Arg1260Gly) | ClinVar gnomAD v4 |
| 14 | g.23419558G= | CA2123445378 | MYH7 | c.3778C= (p.Arg1260=) | |
| 14 | g.23419558G>T | CA485766386 | MYH7 | c.3778C>A (p.Arg1260=) | |
| 14 | g.23419559G>A | CA014078 | MYH7 | c.3777C>T (p.His1259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419559G>C | CA389042657 | MYH7 | c.3777C>G (p.His1259Gln) | |
| 14 | g.23419559G= | CA2123445385 | MYH7 | c.3777C= (p.His1259=) | |
| 14 | g.23419559G>T | CA038769 | MYH7 | c.3777C>A (p.His1259Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419560T>A | CA389042659 | MYH7 | c.3776A>T (p.His1259Leu) | |
| 14 | g.23419560T>C | CA389042660 | MYH7 | c.3776A>G (p.His1259Arg) | |
| 14 | g.23419560T>G | CA389042662 | MYH7 | c.3776A>C (p.His1259Pro) | |
| 14 | g.23419561G>A | CA389042664 | MYH7 | c.3775C>T (p.His1259Tyr) | |
| 14 | g.23419561G>C | CA389042666 | MYH7 | c.3775C>G (p.His1259Asp) | |
| 14 | g.23419561G>T | CA389042667 | MYH7 | c.3775C>A (p.His1259Asn) | |
| 14 | g.23419562C>A | CA389042669 | MYH7 | c.3774G>T (p.Glu1258Asp) | |
| 14 | g.23419562C= | CA2123445394 | MYH7 | c.3774G= (p.Glu1258=) | |
| 14 | g.23419562C>G | CA389042670 | MYH7 | c.3774G>C (p.Glu1258Asp) | |
| 14 | g.23419562C>T | CA257815058 | MYH7 | c.3774G>A (p.Glu1258=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419563T>A | CA389042673 | MYH7 | c.3773A>T (p.Glu1258Val) | |
| 14 | g.23419563T>C | CA389042674 | MYH7 | c.3773A>G (p.Glu1258Gly) | |
| 14 | g.23419563T>G | CA389042675 | MYH7 | c.3773A>C (p.Glu1258Ala) | gnomAD v4 |
| 14 | g.23419564C>A | CA389042679 | MYH7 | c.3772G>T (p.Glu1258Ter) | |
| 14 | g.23419564C= | CA2123445416 | MYH7 | c.3772G= (p.Glu1258=) | |
| 14 | g.23419564C>G | CA389042680 | MYH7 | c.3772G>C (p.Glu1258Gln) | |
| 14 | g.23419564C>T | CA389042678 | MYH7 | c.3772G>A (p.Glu1258Lys) | |
| 14 | g.23419565A= | CA2123445424 | MYH7 | c.3771T= (p.Asn1257=) | |
| 14 | g.23419565A>C | CA389042683 | MYH7 | c.3771T>G (p.Asn1257Lys) | |
| 14 | g.23419565A>G | CA014068 | MYH7 | c.3771T>C (p.Asn1257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419565A>T | CA389042685 | MYH7 | c.3771T>A (p.Asn1257Lys) | |
| 14 | g.23419565dup | CA7116299 | MYH7 | c.3771dup (p.Glu1258Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419566T>A | CA389042689 | MYH7 | c.3770A>T (p.Asn1257Ile) | |
| 14 | g.23419566T>C | CA014062 | MYH7 | c.3770A>G (p.Asn1257Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419566T>G | CA389042687 | MYH7 | c.3770A>C (p.Asn1257Thr) | |
| 14 | g.23419566T= | CA2123445432 | MYH7 | c.3770A= (p.Asn1257=) | |
| 14 | g.23419567T>A | CA389042691 | MYH7 | c.3769A>T (p.Asn1257Tyr) | |
| 14 | g.23419567T>C | CA389042692 | MYH7 | c.3769A>G (p.Asn1257Asp) | |
| 14 | g.23419567T>G | CA389042693 | MYH7 | c.3769A>C (p.Asn1257His) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419567T= | CA2123445439 | MYH7 | c.3769A= (p.Asn1257=) | |
| 14 | g.23419568C>A | CA389042694 | MYH7 | c.3768G>T (p.Met1256Ile) | |
| 14 | g.23419568C>G | CA389042695 | MYH7 | c.3768G>C (p.Met1256Ile) | |
| 14 | g.23419568C>T | CA389042697 | MYH7 | c.3768G>A (p.Met1256Ile) | COSMIC |
| 14 | g.23419569A= | CA2123445444 | MYH7 | c.3767T= (p.Met1256=) | |
| 14 | g.23419569A>C | CA389042699 | MYH7 | c.3767T>G (p.Met1256Arg) | |
| 14 | g.23419569A>G | CA389042702 | MYH7 | c.3767T>C (p.Met1256Thr) | ClinVar dbSNP |
| 14 | g.23419569A>T | CA389042701 | MYH7 | c.3767T>A (p.Met1256Lys) | |
| 14 | g.23419570T>A | CA389042703 | MYH7 | c.3766A>T (p.Met1256Leu) | |
| 14 | g.23419570T>C | CA389042706 | MYH7 | c.3766A>G (p.Met1256Val) | |
| 14 | g.23419570T>G | CA389042705 | MYH7 | c.3766A>C (p.Met1256Leu) | |
| 14 | g.23419571C>A | CA389042708 | MYH7 | c.3765G>T (p.Gln1255His) | gnomAD v4 |
| 14 | g.23419571C>G | CA389042710 | MYH7 | c.3765G>C (p.Gln1255His) | |
| 14 | g.23419571C>T | CA485766402 | MYH7 | c.3765G>A (p.Gln1255=) | |
| 14 | g.23419572T>A | CA389042711 | MYH7 | c.3764A>T (p.Gln1255Leu) | |
| 14 | g.23419572T>C | CA389042712 | MYH7 | c.3764A>G (p.Gln1255Arg) | |
| 14 | g.23419572T>G | CA389042714 | MYH7 | c.3764A>C (p.Gln1255Pro) | |
| 14 | g.23419573G>A | CA389042716 | MYH7 | c.3763C>T (p.Gln1255Ter) | dbSNP |
| 14 | g.23419573G>C | CA389042718 | MYH7 | c.3763C>G (p.Gln1255Glu) | |
| 14 | g.23419573G= | CA2123445450 | MYH7 | c.3763C= (p.Gln1255=) | |
| 14 | g.23419573G>T | CA389042719 | MYH7 | c.3763C>A (p.Gln1255Lys) | |
| 14 | g.23419574G>A | CA485766405 | MYH7 | c.3762C>T (p.Asp1254=) | ClinVar gnomAD v4 |
| 14 | g.23419574G>C | CA389042720 | MYH7 | c.3762C>G (p.Asp1254Glu) | |
| 14 | g.23419574G>T | CA389042722 | MYH7 | c.3762C>A (p.Asp1254Glu) | |
| 14 | g.23419575T>A | CA389042724 | MYH7 | c.3761A>T (p.Asp1254Val) | |
| 14 | g.23419575T>C | CA389042726 | MYH7 | c.3761A>G (p.Asp1254Gly) | |
| 14 | g.23419575T>G | CA389042727 | MYH7 | c.3761A>C (p.Asp1254Ala) | |
| 14 | g.23419576C>A | CA389042729 | MYH7 | c.3760G>T (p.Asp1254Tyr) | |
| 14 | g.23419576C>G | CA389042732 | MYH7 | c.3760G>C (p.Asp1254His) | |
| 14 | g.23419576C>T | CA389042730 | MYH7 | c.3760G>A (p.Asp1254Asn) | gnomAD v4 |
| 14 | g.23419577T>A | CA389042734 | MYH7 | c.3759A>T (p.Glu1253Asp) | |
| 14 | g.23419577T>C | CA485766409 | MYH7 | c.3759A>G (p.Glu1253=) | dbSNP |
| 14 | g.23419577T>G | CA389042735 | MYH7 | c.3759A>C (p.Glu1253Asp) | gnomAD v4 |
| 14 | g.23419577T= | CA2123445455 | MYH7 | c.3759A= (p.Glu1253=) | |
| 14 | g.23419578T>A | CA389042736 | MYH7 | c.3758A>T (p.Glu1253Val) | |
| 14 | g.23419578T>C | CA389042738 | MYH7 | c.3758A>G (p.Glu1253Gly) | |
| 14 | g.23419578T>G | CA389042740 | MYH7 | c.3758A>C (p.Glu1253Ala) | |
| 14 | g.23419578T= | CA2123445457 | MYH7 | c.3758A= (p.Glu1253=) | |
| 14 | g.23419579C>A | CA389042742 | MYH7 | c.3757G>T (p.Glu1253Ter) | |
| 14 | g.23419579C>G | CA389042743 | MYH7 | c.3757G>C (p.Glu1253Gln) | |
| 14 | g.23419579C>T | CA389042744 | MYH7 | c.3757G>A (p.Glu1253Lys) | |
| 14 | g.23419579_23419580dup | CA2123445458 | MYH7 | c.3756_3757dup (p.Glu1253GlyfsTer5) | dbSNP |
| 14 | g.23419580C>A | CA389042746 | MYH7 | c.3756G>T (p.Leu1252Phe) | |
| 14 | g.23419580C>G | CA389042748 | MYH7 | c.3756G>C (p.Leu1252Phe) | |
| 14 | g.23419580C>T | CA485766411 | MYH7 | c.3756G>A (p.Leu1252=) | |
| 14 | g.23419581A= | CA2123445462 | MYH7 | c.3755T= (p.Leu1252=) | |
| 14 | g.23419581A>C | CA389042752 | MYH7 | c.3755T>G (p.Leu1252Trp) | ClinVar |
| 14 | g.23419581A>G | CA389042751 | MYH7 | c.3755T>C (p.Leu1252Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23419581A>T | CA389042750 | MYH7 | c.3755T>A (p.Leu1252Ter) | |
| 14 | g.23419582A= | CA2123445467 | MYH7 | c.3754T= (p.Leu1252=) | |
| 14 | g.23419582A>C | CA389042754 | MYH7 | c.3754T>G (p.Leu1252Val) | |
| 14 | g.23419582A>G | CA014051 | MYH7 | c.3754T>C (p.Leu1252=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419582A>T | CA389042756 | MYH7 | c.3754T>A (p.Leu1252Met) | |
| 14 | g.23419583G>A | CA038728 | MYH7 | c.3753C>T (p.Thr1251=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23419583G>C | CA485766414 | MYH7 | c.3753C>G (p.Thr1251=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419583G= | CA2123445473 | MYH7 | c.3753C= (p.Thr1251=) | |
| 14 | g.23419583G>T | CA485766415 | MYH7 | c.3753C>A (p.Thr1251=) | |
| 14 | g.23419584G>A | CA389042758 | MYH7 | c.3752C>T (p.Thr1251Ile) | ClinVar dbSNP |
| 14 | g.23419584G>C | CA389042760 | MYH7 | c.3752C>G (p.Thr1251Ser) | |
| 14 | g.23419584G= | CA2123445480 | MYH7 | c.3752C= (p.Thr1251=) | |
| 14 | g.23419584G>T | CA389042761 | MYH7 | c.3752C>A (p.Thr1251Asn) | |
| 14 | g.23419585T>A | CA389042763 | MYH7 | c.3751A>T (p.Thr1251Ser) | |
| 14 | g.23419585T>C | CA389042764 | MYH7 | c.3751A>G (p.Thr1251Ala) | |
| 14 | g.23419585T>G | CA389042766 | MYH7 | c.3751A>C (p.Thr1251Pro) | |
| 14 | g.23419586C>A | CA485766426 | MYH7 | c.3750G>T (p.Arg1250=) | ClinVar |
| 14 | g.23419586C= | CA2123445485 | MYH7 | c.3750G= (p.Arg1250=) | |
| 14 | g.23419586C>G | CA485766429 | MYH7 | c.3750G>C (p.Arg1250=) | |
| 14 | g.23419586C>T | CA038721 | MYH7 | c.3750G>A (p.Arg1250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419587del | CA2624230713 | MYH7 | c.3750del (p.Thr1251ProfsTer6) | gnomAD v4 |
| 14 | g.23419587C>A | CA389042767 | MYH7 | c.3749G>T (p.Arg1250Leu) | |
| 14 | g.23419587C= | CA2123445488 | MYH7 | c.3749G= (p.Arg1250=) | |
| 14 | g.23419587C>G | CA014046 | MYH7 | c.3749G>C (p.Arg1250Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23419587C>T | CA038693 | MYH7 | c.3749G>A (p.Arg1250Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23419588G>A | CA014039 | MYH7 | c.3748C>T (p.Arg1250Trp) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419588G>C | CA389042770 | MYH7 | c.3748C>G (p.Arg1250Gly) | ClinVar dbSNP gnomAD v4 |
| 14 | g.23419588G= | CA2123445499 | MYH7 | c.3748C= (p.Arg1250=) | |
| 14 | g.23419588G>T | CA485766431 | MYH7 | c.3748C>A (p.Arg1250=) | |
| 14 | g.23419589del | CA2825002214 | MYH7 | c.3748del (p.Arg1250GlyfsTer7) | ClinVar |