Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.23415974C= | CA2123464953 | MHRT,MYH7 | c.4953+30G= (n.4953+30G=) n.262-27C= | |
14 | g.23415974C>T | CA257810319 | MHRT,MYH7 | c.4953+30G>A (n.4953+30G>A) n.262-27C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415975G>A | CA044347 | MHRT,MYH7 | c.4953+29C>T (n.4953+29C>T) n.262-26G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23415975G>C | CA2123464961 | MHRT,MYH7 | c.4953+29C>G (n.4953+29C>G) n.262-26G>C | dbSNP |
14 | g.23415975G= | CA2123464957 | MHRT,MYH7 | c.4953+29C= (n.4953+29C=) n.262-26G= | |
14 | g.23415975G>T | CA2838816405 | MHRT,MYH7 | c.4953+29C>A (n.4953+29C>A) n.262-26G>T | |
14 | g.23415977G>A | CA257810328 | MHRT,MYH7 | c.4953+27C>T (n.4953+27C>T) n.262-24G>A | dbSNP gnomAD v4 |
14 | g.23415977G= | CA2123464963 | MHRT,MYH7 | c.4953+27C= (n.4953+27C=) n.262-24G= | |
14 | g.23415977G>T | CA2842781004 | MHRT,MYH7 | c.4953+27C>A (n.4953+27C>A) n.262-24G>T | |
14 | g.23415978G>A | CA2575486490 | MHRT,MYH7 | c.4953+26C>T (n.4953+26C>T) n.262-23G>A | gnomAD v4 |
14 | g.23415981G>A | CA2123464971 | MHRT,MYH7 | c.4953+23C>T (n.4953+23C>T) n.262-20G>A | dbSNP |
14 | g.23415981G>C | CA704284139 | MHRT,MYH7 | c.4953+23C>G (n.4953+23C>G) n.262-20G>C | dbSNP |
14 | g.23415981G= | CA2123464968 | MHRT,MYH7 | c.4953+23C= (n.4953+23C=) n.262-20G= | |
14 | g.23415982C>A | CA485766418 | MHRT,MYH7 | c.4953+22G>T (n.4953+22G>T) n.262-19C>A | |
14 | g.23415982C= | CA2123464973 | MHRT,MYH7 | c.4953+22G= (n.4953+22G=) n.262-19C= | |
14 | g.23415982C>T | CA613317698 | MHRT,MYH7 | c.4953+22G>A (n.4953+22G>A) n.262-19C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23415984A= | CA2123464974 | MHRT,MYH7 | c.4953+20T= (n.4953+20T=) n.262-17A= | |
14 | g.23415984A>T | CA2123464975 | MHRT,MYH7 | c.4953+20T>A (n.4953+20T>A) n.262-17A>T | ClinVar dbSNP |
14 | g.23415985G>T | CA2842781005 | MHRT,MYH7 | c.4953+19C>A (n.4953+19C>A) n.262-16G>T | |
14 | g.23415986T>A | CA2624233935 | MHRT,MYH7 | c.4953+18A>T (n.4953+18A>T) n.262-15T>A | gnomAD v4 |
14 | g.23415987C= | CA2123464980 | MHRT,MYH7 | c.4953+17G= (n.4953+17G=) n.262-14C= | |
14 | g.23415987C>T | CA044335 | MHRT,MYH7 | c.4953+17G>A (n.4953+17G>A) n.262-14C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415988C>G | CA2624233940 | MHRT,MYH7 | c.4953+16G>C (n.4953+16G>C) n.262-13C>G | dbSNP gnomAD v4 |
14 | g.23415988C>T | CA2624233941 | MHRT,MYH7 | c.4953+16G>A (n.4953+16G>A) n.262-13C>T | gnomAD v4 |
14 | g.23415989C>A | CA2580087970 | MHRT,MYH7 | c.4953+15G>T (n.4953+15G>T) n.262-12C>A | ClinVar |
14 | g.23415989C= | CA2123464985 | MHRT,MYH7 | c.4953+15G= (n.4953+15G=) n.262-12C= | |
14 | g.23415989C>T | CA044322 | MHRT,MYH7 | c.4953+15G>A (n.4953+15G>A) n.262-12C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415990C= | CA2123464987 | MHRT,MYH7 | c.4953+14G= (n.4953+14G=) n.262-11C= | |
14 | g.23415990C>T | CA044307 | MHRT,MYH7 | c.4953+14G>A (n.4953+14G>A) n.262-11C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415991T>A | CA015488 | MHRT,MYH7 | c.4953+13A>T (n.4953+13A>T) n.262-10T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415991T>C | CA2624233953 | MHRT,MYH7 | c.4953+13A>G (n.4953+13A>G) n.262-10T>C | ClinVar gnomAD v4 |
14 | g.23415991T= | CA2123464990 | MHRT,MYH7 | c.4953+13A= (n.4953+13A=) n.262-10T= | |
14 | g.23415992_23415993delinsCT | CA2123464995 | MHRT,MYH7 | c.4953+11_4953+12delinsAG (n.4953+11_4953+12delinsAG) n.262-9_262-8delinsCT | |
14 | g.23415993del | CA044290 | MHRT,MYH7 | c.4953+11del (n.4953+11del) n.262-8del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23415993T>A | CA044284 | MHRT,MYH7 | c.4953+11A>T (n.4953+11A>T) n.262-8T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23415993T= | CA2123465004 | MHRT,MYH7 | c.4953+11A= (n.4953+11A=) n.262-8T= | |
14 | g.23415994G>A | CA2575486497 | MHRT,MYH7 | c.4953+10C>T (n.4953+10C>T) n.262-7G>A | gnomAD v4 |
14 | g.23415994G>T | CA2839262392 | MHRT,MYH7 | c.4953+10C>A (n.4953+10C>A) n.262-7G>T | |
14 | g.23415996del | CA389037268 | MHRT,MYH7 | c.4953+10del (n.4953+10del) n.262-5del | |
14 | g.23415995G>C | CA2573149771 | MHRT,MYH7 | c.4953+9C>G (n.4953+9C>G) n.262-6G>C | ClinVar dbSNP gnomAD v4 |
14 | g.23415995G>T | CA2624233974 | MHRT,MYH7 | c.4953+9C>A (n.4953+9C>A) n.262-6G>T | gnomAD v4 |
14 | g.23415996G>A | CA257810357 | MHRT,MYH7 | c.4953+8C>T (n.4953+8C>T) n.262-5G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23415996G= | CA2123465008 | MHRT,MYH7 | c.4953+8C= (n.4953+8C=) n.262-5G= | |
14 | g.23415996G>T | CA2123465010 | MHRT,MYH7 | c.4953+8C>A (n.4953+8C>A) n.262-5G>T | dbSNP |
14 | g.23415998G= | CA2123465015 | MHRT,MYH7 | c.4953+6C= (n.4953+6C=) n.262-3G= | |
14 | g.23415998G>T | CA1139663366 | MHRT,MYH7 | c.4953+6C>A (n.4953+6C>A) n.262-3G>T | ClinVar dbSNP |
14 | g.23415998dup | CA2842626969 | MHRT,MYH7 | c.4953+6dup (n.4953+6dup) n.262-3dup | |
14 | g.23415999A= | CA2123465022 | MHRT,MYH7 | c.4953+5T= (n.4953+5T=) n.262-2A= | |
14 | g.23415999A>G | CA257810362 | MHRT,MYH7 | c.4953+5T>C (n.4953+5T>C) n.262-2A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23415999A>T | CA2575486503 | MHRT,MYH7 | c.4953+5T>A (n.4953+5T>A) n.262-2A>T | gnomAD v4 |
14 | g.23415999_23416000insCCTCCCGCCCCCAT | CA2624233999 | MHRT,MYH7 | c.4953+4_4953+5insATGGGGGCGGGAGG (n.4953+4_4953+5insATGGGGGCGGGAGG) n.262-2_262-1insCCTCCCGCCCCCAT | gnomAD v4 |
14 | g.23416000G>A | CA257810371 | MHRT,MYH7 | c.4953+4C>T (n.4953+4C>T) n.262-1G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23416000G= | CA2123465025 | MHRT,MYH7 | c.4953+4C= (n.4953+4C=) n.262-1G= | |
14 | g.23416001T>A | CA2697553892 | MHRT,MYH7 | c.4953+3A>T (n.4953+3A>T) n.262T>A | ClinVar |
14 | g.23416001dup | CA2624234005 | MHRT,MYH7 | c.4953+3dup (n.4953+3dup) n.262dup | gnomAD v4 |
14 | g.23416002A>C | CA389037269 | MHRT,MYH7 | c.4953+2T>G (n.4953+2T>G) n.263A>C | |
14 | g.23416002A>G | CA389037270 | MHRT,MYH7 | c.4953+2T>C (n.4953+2T>C) n.263A>G | |
14 | g.23416002A>T | CA389037271 | MHRT,MYH7 | c.4953+2T>A (n.4953+2T>A) n.263A>T | COSMIC |
14 | g.23416003C>A | CA389037272 | MHRT,MYH7 | c.4953+1G>T (n.4953+1G>T) n.264C>A | ClinVar |
14 | g.23416003C>G | CA389037273 | MHRT,MYH7 | c.4953+1G>C (n.4953+1G>C) n.264C>G | |
14 | g.23416003C>T | CA389037274 | MHRT,MYH7 | c.4953+1G>A (n.4953+1G>A) n.264C>T | gnomAD v4 |
14 | g.23416004C>A | CA389037275 | MHRT,MYH7 | c.4953G>T (p.Lys1651Asn) n.265C>A | ClinVar dbSNP |
14 | g.23416004C= | CA2123465033 | MHRT,MYH7 | c.4953G= (p.Lys1651=) n.265C= | |
14 | g.23416004C>G | CA389037276 | MHRT,MYH7 | c.4953G>C (p.Lys1651Asn) n.265C>G | ClinVar gnomAD v4 |
14 | g.23416004C>T | CA485766421 | MHRT,MYH7 | c.4953G>A (p.Lys1651=) n.265C>T | ClinVar dbSNP |
14 | g.23416005T>A | CA389037277 | MHRT,MYH7 | c.4952A>T (p.Lys1651Met) n.266T>A | |
14 | g.23416005T>C | CA389037278 | MHRT,MYH7 | c.4952A>G (p.Lys1651Arg) n.266T>C | |
14 | g.23416005T>G | CA389037279 | MHRT,MYH7 | c.4952A>C (p.Lys1651Thr) n.266T>G | |
14 | g.23416006T>A | CA389037282 | MHRT,MYH7 | c.4951A>T (p.Lys1651Ter) n.267T>A | |
14 | g.23416006T>C | CA389037281 | MHRT,MYH7 | c.4951A>G (p.Lys1651Glu) n.267T>C | |
14 | g.23416006T>G | CA389037280 | MHRT,MYH7 | c.4951A>C (p.Lys1651Gln) n.267T>G | |
14 | g.23416007C>A | CA389037283 | MHRT,MYH7 | c.4950G>T (p.Leu1650Phe) n.268C>A | |
14 | g.23416007C>G | CA389037284 | MHRT,MYH7 | c.4950G>C (p.Leu1650Phe) n.268C>G | |
14 | g.23416007C>T | CA485766424 | MHRT,MYH7 | c.4950G>A (p.Leu1650=) n.268C>T | |
14 | g.23416008A= | CA2123465038 | MHRT,MYH7 | c.4949T= (p.Leu1650=) n.269A= | |
14 | g.23416008A>C | CA389037285 | MHRT,MYH7 | c.4949T>G (p.Leu1650Trp) n.269A>C | |
14 | g.23416008A>G | CA044271 | MHRT,MYH7 | c.4949T>C (p.Leu1650Ser) n.269A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416008A>T | CA389037286 | MHRT,MYH7 | c.4949T>A (p.Leu1650Ter) n.269A>T | |
14 | g.23416009A= | CA2123465044 | MHRT,MYH7 | c.4948T= (p.Leu1650=) n.270A= | |
14 | g.23416009A>C | CA389037287 | MHRT,MYH7 | c.4948T>G (p.Leu1650Val) n.270A>C | |
14 | g.23416009A>G | CA485766425 | MHRT,MYH7 | c.4948T>C (p.Leu1650=) n.270A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416009A>T | CA389037288 | MHRT,MYH7 | c.4948T>A (p.Leu1650Met) n.270A>T | |
14 | g.23416010C>A | CA389037289 | MHRT,MYH7 | c.4947G>T (p.Leu1649Phe) n.271C>A | dbSNP |
14 | g.23416010C= | CA2123465047 | MHRT,MYH7 | c.4947G= (p.Leu1649=) n.271C= | |
14 | g.23416010C>G | CA389037290 | MHRT,MYH7 | c.4947G>C (p.Leu1649Phe) n.271C>G | |
14 | g.23416010C>T | CA485766427 | MHRT,MYH7 | c.4947G>A (p.Leu1649=) n.271C>T | |
14 | g.23416011A>C | CA389037291 | MHRT,MYH7 | c.4946T>G (p.Leu1649Trp) n.272A>C | |
14 | g.23416011A>G | CA389037292 | MHRT,MYH7 | c.4946T>C (p.Leu1649Ser) n.272A>G | |
14 | g.23416011A>T | CA389037293 | MHRT,MYH7 | c.4946T>A (p.Leu1649Ter) n.272A>T | |
14 | g.23416012A>C | CA389037294 | MHRT,MYH7 | c.4945T>G (p.Leu1649Val) n.273A>C | |
14 | g.23416012A>G | CA485766430 | MHRT,MYH7 | c.4945T>C (p.Leu1649=) n.273A>G | ClinVar |
14 | g.23416012A>T | CA389037295 | MHRT,MYH7 | c.4945T>A (p.Leu1649Met) n.273A>T | ClinVar gnomAD v4 |
14 | g.23416013G>A | CA485766433 | MHRT,MYH7 | c.4944C>T (p.Ser1648=) n.274G>A | ClinVar |
14 | g.23416013G>C | CA389037296 | MHRT,MYH7 | c.4944C>G (p.Ser1648Arg) n.274G>C | |
14 | g.23416013G>T | CA389037297 | MHRT,MYH7 | c.4944C>A (p.Ser1648Arg) n.274G>T | |
14 | g.23416014del | CA2832528663 | MHRT,MYH7 | c.4943del (p.Ser1648ThrfsTer3) n.275del | |
14 | g.23416014C>A | CA389037298 | MHRT,MYH7 | c.4943G>T (p.Ser1648Ile) n.275C>A | |
14 | g.23416014C= | CA2123465050 | MHRT,MYH7 | c.4943G= (p.Ser1648=) n.275C= | |
14 | g.23416014C>G | CA389037299 | MHRT,MYH7 | c.4943G>C (p.Ser1648Thr) n.275C>G | |
14 | g.23416014C>T | CA044261 | MHRT,MYH7 | c.4943G>A (p.Ser1648Asn) n.275C>T | dbSNP ExAC gnomAD v2 |
14 | g.23416015T>A | CA389037302 | MHRT,MYH7 | c.4942A>T (p.Ser1648Cys) n.276T>A | |
14 | g.23416015T>C | CA389037300 | MHRT,MYH7 | c.4942A>G (p.Ser1648Gly) n.276T>C | gnomAD v4 |
14 | g.23416015T>G | CA389037301 | MHRT,MYH7 | c.4942A>C (p.Ser1648Arg) n.276T>G | |
14 | g.23416016C>A | CA389037303 | MHRT,MYH7 | c.4941G>T (p.Gln1647His) n.277C>A | ClinVar dbSNP |
14 | g.23416016C= | CA2123465057 | MHRT,MYH7 | c.4941G= (p.Gln1647=) n.277C= | |
14 | g.23416016C>G | CA044255 | MHRT,MYH7 | c.4941G>C (p.Gln1647His) n.277C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23416016C>T | CA485766437 | MHRT,MYH7 | c.4941G>A (p.Gln1647=) n.277C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23416017T>A | CA389037304 | MHRT,MYH7 | c.4940A>T (p.Gln1647Leu) n.278T>A | |
14 | g.23416017T>C | CA389037305 | MHRT,MYH7 | c.4940A>G (p.Gln1647Arg) n.278T>C | |
14 | g.23416017T>G | CA389037306 | MHRT,MYH7 | c.4940A>C (p.Gln1647Pro) n.278T>G | |
14 | g.23416018G>A | CA389037307 | MHRT,MYH7 | c.4939C>T (p.Gln1647Ter) n.279G>A | |
14 | g.23416018G>C | CA389037308 | MHRT,MYH7 | c.4939C>G (p.Gln1647Glu) n.279G>C | |
14 | g.23416018G>T | CA389037309 | MHRT,MYH7 | c.4939C>A (p.Gln1647Lys) n.279G>T | |
14 | g.23416019G>A | CA485766442 | MHRT,MYH7 | c.4938C>T (p.Leu1646=) n.280G>A | |
14 | g.23416019G>C | CA485766440 | MHRT,MYH7 | c.4938C>G (p.Leu1646=) n.280G>C | |
14 | g.23416019G>T | CA485766441 | MHRT,MYH7 | c.4938C>A (p.Leu1646=) n.280G>T | |
14 | g.23416020A= | CA2123465065 | MHRT,MYH7 | c.4937T= (p.Leu1646=) n.281A= | |
14 | g.23416020A>C | CA389037310 | MHRT,MYH7 | c.4937T>G (p.Leu1646Arg) n.281A>C | |
14 | g.23416020A>G | CA015466 | MHRT,MYH7 | c.4937T>C (p.Leu1646Pro) n.281A>G | ClinVar dbSNP |
14 | g.23416020A>T | CA389037311 | MHRT,MYH7 | c.4937T>A (p.Leu1646His) n.281A>T | |
14 | g.23416021G>A | CA389037314 | MHRT,MYH7 | c.4936C>T (p.Leu1646Phe) n.282G>A | gnomAD v4 |
14 | g.23416021G>C | CA389037313 | MHRT,MYH7 | c.4936C>G (p.Leu1646Val) n.282G>C | |
14 | g.23416021G>T | CA389037312 | MHRT,MYH7 | c.4936C>A (p.Leu1646Ile) n.282G>T | |
14 | g.23416021_23416022del | CA2624234047 | MHRT,MYH7 | c.4935_4936del (p.Leu1646ProfsTer?) n.282_283del | gnomAD v4 |
14 | g.23416022G>A | CA485766448 | MHRT,MYH7 | c.4935C>T (p.Ser1645=) n.283G>A | |
14 | g.23416022G>C | CA389037315 | MHRT,MYH7 | c.4935C>G (p.Ser1645Arg) n.283G>C | |
14 | g.23416022G= | CA2123465070 | MHRT,MYH7 | c.4935C= (p.Ser1645=) n.283G= | |
14 | g.23416022G>T | CA389037316 | MHRT,MYH7 | c.4935C>A (p.Ser1645Arg) n.283G>T | ClinVar dbSNP |
14 | g.23416023C>A | CA389037317 | MHRT,MYH7 | c.4934G>T (p.Ser1645Ile) n.284C>A | |
14 | g.23416023C>G | CA389037318 | MHRT,MYH7 | c.4934G>C (p.Ser1645Thr) n.284C>G | |
14 | g.23416023C>T | CA389037319 | MHRT,MYH7 | c.4934G>A (p.Ser1645Asn) n.284C>T | |
14 | g.23416024T>A | CA389037320 | MHRT,MYH7 | c.4933A>T (p.Ser1645Cys) n.285T>A | |
14 | g.23416024T>C | CA389037321 | MHRT,MYH7 | c.4933A>G (p.Ser1645Gly) n.285T>C | |
14 | g.23416024T>G | CA389037322 | MHRT,MYH7 | c.4933A>C (p.Ser1645Arg) n.285T>G | |
14 | g.23416025C>A | CA389037323 | MHRT,MYH7 | c.4932G>T (p.Lys1644Asn) n.286C>A | |
14 | g.23416025C= | CA2123465075 | MHRT,MYH7 | c.4932G= (p.Lys1644=) n.286C= | |
14 | g.23416025C>G | CA389037324 | MHRT,MYH7 | c.4932G>C (p.Lys1644Asn) n.286C>G | |
14 | g.23416025C>T | CA485766453 | MHRT,MYH7 | c.4932G>A (p.Lys1644=) n.286C>T | ClinVar dbSNP gnomAD v4 |
14 | g.23416026T>A | CA389037325 | MHRT,MYH7 | c.4931A>T (p.Lys1644Met) n.287T>A | |
14 | g.23416026T>C | CA389037326 | MHRT,MYH7 | c.4931A>G (p.Lys1644Arg) n.287T>C | |
14 | g.23416026T>G | CA389037327 | MHRT,MYH7 | c.4931A>C (p.Lys1644Thr) n.287T>G | gnomAD v4 |
14 | g.23416027dup | CA2838205359 | MHRT,MYH7 | c.4931dup (p.Ser1645GlufsTer?) n.288dup | |
14 | g.23416027T>A | CA389037330 | MHRT,MYH7 | c.4930A>T (p.Lys1644Ter) n.288T>A | |
14 | g.23416027T>C | CA389037328 | MHRT,MYH7 | c.4930A>G (p.Lys1644Glu) n.288T>C | |
14 | g.23416027T>G | CA389037329 | MHRT,MYH7 | c.4930A>C (p.Lys1644Gln) n.288T>G | |
14 | g.23416028G>A | CA485766459 | MHRT,MYH7 | c.4929C>T (p.Val1643=) n.289G>A | dbSNP gnomAD v4 |
14 | g.23416028G>C | CA485766460 | MHRT,MYH7 | c.4929C>G (p.Val1643=) n.289G>C | |
14 | g.23416028G>T | CA485766461 | MHRT,MYH7 | c.4929C>A (p.Val1643=) n.289G>T | |
14 | g.23416029A>C | CA389037331 | MHRT,MYH7 | c.4928T>G (p.Val1643Gly) n.290A>C | |
14 | g.23416029A>G | CA389037332 | MHRT,MYH7 | c.4928T>C (p.Val1643Ala) n.290A>G | |
14 | g.23416029A>T | CA389037333 | MHRT,MYH7 | c.4928T>A (p.Val1643Asp) n.290A>T | |
14 | g.23416030C>A | CA389037334 | MHRT,MYH7 | c.4927G>T (p.Val1643Phe) n.291C>A | |
14 | g.23416030C>G | CA389037335 | MHRT,MYH7 | c.4927G>C (p.Val1643Leu) n.291C>G | |
14 | g.23416030C>T | CA389037336 | MHRT,MYH7 | c.4927G>A (p.Val1643Ile) n.291C>T | |
14 | g.23416031T>A | CA389037337 | MHRT,MYH7 | c.4926A>T (p.Gln1642His) n.292T>A | |
14 | g.23416031T>C | CA485766463 | MHRT,MYH7 | c.4926A>G (p.Gln1642=) n.292T>C | gnomAD v4 |
14 | g.23416031T>G | CA389037338 | MHRT,MYH7 | c.4926A>C (p.Gln1642His) n.292T>G | |
14 | g.23416032T>A | CA389037339 | MHRT,MYH7 | c.4925A>T (p.Gln1642Leu) n.293T>A | |
14 | g.23416032T>C | CA389037340 | MHRT,MYH7 | c.4925A>G (p.Gln1642Arg) n.293T>C | |
14 | g.23416032T>G | CA389037341 | MHRT,MYH7 | c.4925A>C (p.Gln1642Pro) n.293T>G | |
14 | g.23416033G>A | CA389037344 | MHRT,MYH7 | c.4924C>T (p.Gln1642Ter) n.294G>A | ClinVar |
14 | g.23416033G>C | CA389037343 | MHRT,MYH7 | c.4924C>G (p.Gln1642Glu) n.294G>C | gnomAD v4 |
14 | g.23416033G>T | CA389037342 | MHRT,MYH7 | c.4924C>A (p.Gln1642Lys) n.294G>T | |
14 | g.23416034C>A | CA389037345 | MHRT,MYH7 | c.4923G>T (p.Lys1641Asn) n.295C>A | |
14 | g.23416034C>G | CA389037346 | MHRT,MYH7 | c.4923G>C (p.Lys1641Asn) n.295C>G | |
14 | g.23416034C>T | CA485766466 | MHRT,MYH7 | c.4923G>A (p.Lys1641=) n.295C>T | |
14 | g.23416035T>A | CA389037347 | MHRT,MYH7 | c.4922A>T (p.Lys1641Met) n.296T>A | |
14 | g.23416035T>C | CA389037348 | MHRT,MYH7 | c.4922A>G (p.Lys1641Arg) n.296T>C | |
14 | g.23416035T>G | CA389037349 | MHRT,MYH7 | c.4922A>C (p.Lys1641Thr) n.296T>G | gnomAD v4 |
14 | g.23416036T>A | CA389037350 | MHRT,MYH7 | c.4921A>T (p.Lys1641Ter) n.297T>A | |
14 | g.23416036T>C | CA389037351 | MHRT,MYH7 | c.4921A>G (p.Lys1641Glu) n.297T>C | |
14 | g.23416036T>G | CA389037352 | MHRT,MYH7 | c.4921A>C (p.Lys1641Gln) n.297T>G | |
14 | g.23416037C>A | CA389037353 | MHRT,MYH7 | c.4920G>T (p.Gln1640His) n.298C>A | COSMIC |
14 | g.23416037C= | CA2123465077 | MHRT,MYH7 | c.4920G= (p.Gln1640=) n.298C= | |
14 | g.23416037C>G | CA389037354 | MHRT,MYH7 | c.4920G>C (p.Gln1640His) n.298C>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23416037C>T | CA485766467 | MHRT,MYH7 | c.4920G>A (p.Gln1640=) n.298C>T | dbSNP |
14 | g.23416038T>A | CA044243 | MHRT,MYH7 | c.4919A>T (p.Gln1640Leu) n.299T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23416038T>C | CA389037355 | MHRT,MYH7 | c.4919A>G (p.Gln1640Arg) n.299T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23416038T>G | CA389037356 | MHRT,MYH7 | c.4919A>C (p.Gln1640Pro) n.299T>G | ClinVar dbSNP |
14 | g.23416038T= | CA2123465082 | MHRT,MYH7 | c.4919A= (p.Gln1640=) n.299T= | |
14 | g.23416039G>A | CA389037359 | MHRT,MYH7 | c.4918C>T (p.Gln1640Ter) n.300G>A | ClinVar |
14 | g.23416039G>C | CA389037358 | MHRT,MYH7 | c.4918C>G (p.Gln1640Glu) n.300G>C | |
14 | g.23416039G>T | CA389037357 | MHRT,MYH7 | c.4918C>A (p.Gln1640Lys) n.300G>T | |
14 | g.23416040G>A | CA485766469 | MHRT,MYH7 | c.4917C>T (p.Ala1639=) n.301G>A | ClinVar dbSNP gnomAD v4 |
14 | g.23416040G>C | CA485766470 | MHRT,MYH7 | c.4917C>G (p.Ala1639=) n.301G>C | |
14 | g.23416040G= | CA2123465087 | MHRT,MYH7 | c.4917C= (p.Ala1639=) n.301G= | |
14 | g.23416040G>T | CA485766472 | MHRT,MYH7 | c.4917C>A (p.Ala1639=) n.301G>T | |
14 | g.23416041G>A | CA389037360 | MHRT,MYH7 | c.4916C>T (p.Ala1639Val) n.302G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416041G>C | CA389037361 | MHRT,MYH7 | c.4916C>G (p.Ala1639Gly) n.302G>C | |
14 | g.23416041G= | CA2123465093 | MHRT,MYH7 | c.4916C= (p.Ala1639=) n.302G= | |
14 | g.23416041G>T | CA389037362 | MHRT,MYH7 | c.4916C>A (p.Ala1639Asp) n.302G>T | |
14 | g.23416042C>A | CA389037363 | MHRT,MYH7 | c.4915G>T (p.Ala1639Ser) n.303C>A | dbSNP |
14 | g.23416042C= | CA2123465095 | MHRT,MYH7 | c.4915G= (p.Ala1639=) n.303C= | |
14 | g.23416042C>G | CA389037364 | MHRT,MYH7 | c.4915G>C (p.Ala1639Pro) n.303C>G | |
14 | g.23416042C>T | CA248944 | MHRT,MYH7 | c.4915G>A (p.Ala1639Thr) n.303C>T | ClinVar dbSNP gnomAD v4 |
14 | g.23416043C>A | CA389037365 | MHRT,MYH7 | c.4914G>T (p.Glu1638Asp) n.304C>A | |
14 | g.23416043C= | CA2123465105 | MHRT,MYH7 | c.4914G= (p.Glu1638=) n.304C= | |
14 | g.23416043C>G | CA389037366 | MHRT,MYH7 | c.4914G>C (p.Glu1638Asp) n.304C>G | |
14 | g.23416043C>T | CA044233 | MHRT,MYH7 | c.4914G>A (p.Glu1638=) n.304C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23416044T>A | CA389037367 | MHRT,MYH7 | c.4913A>T (p.Glu1638Val) n.305T>A | |
14 | g.23416044T>C | CA389037368 | MHRT,MYH7 | c.4913A>G (p.Glu1638Gly) n.305T>C | |
14 | g.23416044T>G | CA389037369 | MHRT,MYH7 | c.4913A>C (p.Glu1638Ala) n.305T>G | |
14 | g.23416044_23416046delinsCGAGGCCCAGAAGCCGA | CA2825002210 | MHRT,MYH7 | c.4911_4913delinsTCGGCTTCTGGGCCTCG (p.Glu1638ArgfsTer18) n.305_307delinsCGAGGCCCAGAAGCCGA | ClinVar |
14 | g.23416045C>A | CA389037371 | MHRT,MYH7 | c.4912G>T (p.Glu1638Ter) n.306C>A | |
14 | g.23416045C= | CA2123465106 | MHRT,MYH7 | c.4912G= (p.Glu1638=) n.306C= | |
14 | g.23416045C>G | CA389037372 | MHRT,MYH7 | c.4912G>C (p.Glu1638Gln) n.306C>G | |
14 | g.23416045C>T | CA389037370 | MHRT,MYH7 | c.4912G>A (p.Glu1638Lys) n.306C>T | ClinVar dbSNP gnomAD v4 |
14 | g.23416046G>A | CA015462 | MHRT,MYH7 | c.4911C>T (p.Ala1637=) n.307G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416046G>C | CA485766475 | MHRT,MYH7 | c.4911C>G (p.Ala1637=) n.307G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.23416046G= | CA2123465110 | MHRT,MYH7 | c.4911C= (p.Ala1637=) n.307G= | |
14 | g.23416046G>T | CA485766474 | MHRT,MYH7 | c.4911C>A (p.Ala1637=) n.307G>T | |
14 | g.23416047G>A | CA389037373 | MHRT,MYH7 | c.4910C>T (p.Ala1637Val) n.308G>A | COSMIC |
14 | g.23416047G>C | CA389037374 | MHRT,MYH7 | c.4910C>G (p.Ala1637Gly) n.308G>C | |
14 | g.23416047G>T | CA389037375 | MHRT,MYH7 | c.4910C>A (p.Ala1637Asp) n.308G>T | |
14 | g.23416048C>A | CA389037376 | MHRT,MYH7 | c.4909G>T (p.Ala1637Ser) n.309C>A | |
14 | g.23416048C= | CA2123465118 | MHRT,MYH7 | c.4909G= (p.Ala1637=) n.309C= | |
14 | g.23416048C>G | CA389037377 | MHRT,MYH7 | c.4909G>C (p.Ala1637Pro) n.309C>G | ClinVar dbSNP |
14 | g.23416048C>T | CA015454 | MHRT,MYH7 | c.4909G>A (p.Ala1637Thr) n.309C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416049G>A | CA044195 | MHRT,MYH7 | c.4908C>T (p.Ala1636=) n.310G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416049G>C | CA485766476 | MHRT,MYH7 | c.4908C>G (p.Ala1636=) n.310G>C | |
14 | g.23416049G= | CA2123465125 | MHRT,MYH7 | c.4908C= (p.Ala1636=) n.310G= | |
14 | g.23416049G>T | CA485766477 | MHRT,MYH7 | c.4908C>A (p.Ala1636=) n.310G>T | |
14 | g.23416050G>A | CA389037378 | MHRT,MYH7 | c.4907C>T (p.Ala1636Val) n.311G>A | ClinVar dbSNP |
14 | g.23416050G>C | CA389037379 | MHRT,MYH7 | c.4907C>G (p.Ala1636Gly) n.311G>C | |
14 | g.23416050G= | CA2123465129 | MHRT,MYH7 | c.4907C= (p.Ala1636=) n.311G= | |
14 | g.23416050G>T | CA389037380 | MHRT,MYH7 | c.4907C>A (p.Ala1636Asp) n.311G>T | |
14 | g.23416051C>A | CA389037381 | MHRT,MYH7 | c.4906G>T (p.Ala1636Ser) n.312C>A | |
14 | g.23416051C= | CA2123465138 | MHRT,MYH7 | c.4906G= (p.Ala1636=) n.312C= | |
14 | g.23416051C>G | CA015450 | MHRT,MYH7 | c.4906G>C (p.Ala1636Pro) n.312C>G | ClinVar dbSNP |
14 | g.23416051C>T | CA389037382 | MHRT,MYH7 | c.4906G>A (p.Ala1636Thr) n.312C>T | COSMIC |
14 | g.23416052C>A | CA389037383 | MHRT,MYH7 | c.4905G>T (p.Met1635Ile) n.313C>A | |
14 | g.23416052C>G | CA389037385 | MHRT,MYH7 | c.4905G>C (p.Met1635Ile) n.313C>G | |
14 | g.23416052C>T | CA389037384 | MHRT,MYH7 | c.4905G>A (p.Met1635Ile) n.313C>T | |
14 | g.23416053A= | CA2123465154 | MHRT,MYH7 | c.4904T= (p.Met1635=) n.314A= | |
14 | g.23416053A>C | CA389037386 | MHRT,MYH7 | c.4904T>G (p.Met1635Arg) n.314A>C | |
14 | g.23416053A>G | CA015442 | MHRT,MYH7 | c.4904T>C (p.Met1635Thr) n.314A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416053A>T | CA389037387 | MHRT,MYH7 | c.4904T>A (p.Met1635Lys) n.314A>T | |
14 | g.23416054T>A | CA389037388 | MHRT,MYH7 | c.4903A>T (p.Met1635Leu) n.315T>A | dbSNP |
14 | g.23416054T>C | CA044177 | MHRT,MYH7 | c.4903A>G (p.Met1635Val) n.315T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416054T>G | CA389037389 | MHRT,MYH7 | c.4903A>C (p.Met1635Leu) n.315T>G | |
14 | g.23416054T= | CA2123465162 | MHRT,MYH7 | c.4903A= (p.Met1635=) n.315T= | |
14 | g.23416055G>A | CA485766485 | MHRT,MYH7 | c.4902C>T (p.Arg1634=) n.316G>A | |
14 | g.23416055G>C | CA485766486 | MHRT,MYH7 | c.4902C>G (p.Arg1634=) n.316G>C | |
14 | g.23416055G>T | CA485766487 | MHRT,MYH7 | c.4902C>A (p.Arg1634=) n.316G>T | |
14 | g.23416056C>A | CA389037390 | MHRT,MYH7 | c.4901G>T (p.Arg1634Leu) n.317C>A | ClinVar dbSNP |
14 | g.23416056C= | CA2123465167 | MHRT,MYH7 | c.4901G= (p.Arg1634=) n.317C= | |
14 | g.23416056C>G | CA389037391 | MHRT,MYH7 | c.4901G>C (p.Arg1634Pro) n.317C>G | |
14 | g.23416056C>T | CA077498 | MHRT,MYH7 | c.4901G>A (p.Arg1634His) n.317C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
14 | g.23416056_23416057delinsCG | CA2123465169 | MHRT,MYH7 | c.4900_4901delinsCG (p.Arg1634=) n.317_318delinsCG | |
14 | g.23416057G>A | CA015436 | MHRT,MYH7 | c.4900C>T (p.Arg1634Cys) n.318G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23416057G>C | CA389037392 | MHRT,MYH7 | c.4900C>G (p.Arg1634Gly) n.318G>C | |
14 | g.23416057G= | CA2123465183 | MHRT,MYH7 | c.4900C= (p.Arg1634=) n.318G= | |
14 | g.23416057G>T | CA389037393 | MHRT,MYH7 | c.4900C>A (p.Arg1634Ser) n.318G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416058del | CA613317699 | MHRT,MYH7 | c.4900del (p.Arg1634AlafsTer17) n.319del | dbSNP gnomAD v2 gnomAD v4 |
14 | g.23416058G>A | CA257810449 | MHRT,MYH7 | c.4899C>T (p.Asn1633=) n.319G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23416058G>C | CA389037394 | MHRT,MYH7 | c.4899C>G (p.Asn1633Lys) n.319G>C | |
14 | g.23416058G= | CA2123465190 | MHRT,MYH7 | c.4899C= (p.Asn1633=) n.319G= | |
14 | g.23416058G>T | CA389037395 | MHRT,MYH7 | c.4899C>A (p.Asn1633Lys) n.319G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
14 | g.23416059T>A | CA389037396 | MHRT,MYH7 | c.4898A>T (p.Asn1633Ile) n.320T>A | |
14 | g.23416059T>C | CA389037397 | MHRT,MYH7 | c.4898A>G (p.Asn1633Ser) n.320T>C | dbSNP |
14 | g.23416059T>G | CA389037398 | MHRT,MYH7 | c.4898A>C (p.Asn1633Thr) n.320T>G | |
14 | g.23416059T= | CA2123465198 | MHRT,MYH7 | c.4898A= (p.Asn1633=) n.320T= | |
14 | g.23416060T>A | CA389037399 | MHRT,MYH7 | c.4897A>T (p.Asn1633Tyr) n.321T>A | |
14 | g.23416060T>C | CA044154 | MHRT,MYH7 | c.4897A>G (p.Asn1633Asp) n.321T>C | ClinVar dbSNP ExAC gnomAD v2 |
14 | g.23416060T>G | CA389037400 | MHRT,MYH7 | c.4897A>C (p.Asn1633His) n.321T>G | |
14 | g.23416060T= | CA2123465201 | MHRT,MYH7 | c.4897A= (p.Asn1633=) n.321T= | |
14 | g.23416061G>A | CA485766490 | MHRT,MYH7 | c.4896C>T (p.Ala1632=) n.322G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.23416061G>C | CA485766491 | MHRT,MYH7 | c.4896C>G (p.Ala1632=) n.322G>C | |
14 | g.23416061G= | CA2123465205 | MHRT,MYH7 | c.4896C= (p.Ala1632=) n.322G= | |
14 | g.23416061G>T | CA044135 | MHRT,MYH7 | c.4896C>A (p.Ala1632=) n.322G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.23416062G>A | CA389037401 | MHRT,MYH7 | c.4895C>T (p.Ala1632Val) n.323G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
14 | g.23416062G>C | CA389037402 | MHRT,MYH7 | c.4895C>G (p.Ala1632Gly) n.323G>C | |
14 | g.23416062G= | CA2123465210 | MHRT,MYH7 | c.4895C= (p.Ala1632=) n.323G= | |
14 | g.23416062G>T | CA389037403 | MHRT,MYH7 | c.4895C>A (p.Ala1632Asp) n.323G>T | ClinVar dbSNP |
14 | g.23416063C>A | CA389037404 | MHRT,MYH7 | c.4894G>T (p.Ala1632Ser) n.324C>A | ClinVar |
14 | g.23416063C= | CA2123465216 | MHRT,MYH7 | c.4894G= (p.Ala1632=) n.324C= | |
14 | g.23416063C>G | CA389037405 | MHRT,MYH7 | c.4894G>C (p.Ala1632Pro) n.324C>G | ClinVar dbSNP |
14 | g.23416063C>T | CA044125 | MHRT,MYH7 | c.4894G>A (p.Ala1632Thr) n.324C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.23416064G>A | CA044116 | MHRT,MYH7 | c.4893C>T (p.His1631=) n.325G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.23416064G>C | CA389037407 | MHRT,MYH7 | c.4893C>G (p.His1631Gln) n.325G>C | |
14 | g.23416064G= | CA2123465223 | MHRT,MYH7 | c.4893C= (p.His1631=) n.325G= | |
14 | g.23416064G>T | CA389037406 | MHRT,MYH7 | c.4893C>A (p.His1631Gln) n.325G>T | |
14 | g.23416065T>A | CA389037408 | MHRT,MYH7 | c.4892A>T (p.His1631Leu) n.326T>A | |
14 | g.23416065T>C | CA389037409 | MHRT,MYH7 | c.4892A>G (p.His1631Arg) n.326T>C | |
14 | g.23416065T>G | CA389037410 | MHRT,MYH7 | c.4892A>C (p.His1631Pro) n.326T>G | |
14 | g.23416066G>A | CA389037411 | MHRT,MYH7 | c.4891C>T (p.His1631Tyr) n.327G>A | dbSNP |
14 | g.23416066G>C | CA389037412 | MHRT,MYH7 | c.4891C>G (p.His1631Asp) n.327G>C | |
14 | g.23416066G>T | CA389037413 | MHRT,MYH7 | c.4891C>A (p.His1631Asn) n.327G>T | |
14 | g.23416067G>A | CA485766492 | MHRT,MYH7 | c.4890C>T (p.Ser1630=) n.328G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.23416067G>C | CA389037414 | MHRT,MYH7 | c.4890C>G (p.Ser1630Arg) n.328G>C | |
14 | g.23416067G= | CA2123465232 | MHRT,MYH7 | c.4890C= (p.Ser1630=) n.328G= | |
14 | g.23416067G>T | CA389037415 | MHRT,MYH7 | c.4890C>A (p.Ser1630Arg) n.328G>T | |
14 | g.23416071_23416075del | CA913184894 | MHRT,MYH7 | c.4886_4890del (p.Leu1629ProfsTer?) n.332_336del | |
14 | g.23416068C>A | CA389037416 | MHRT,MYH7 | c.4889G>T (p.Ser1630Ile) n.329C>A | |
14 | g.23416068C>G | CA389037417 | MHRT,MYH7 | c.4889G>C (p.Ser1630Thr) n.329C>G | |
14 | g.23416068C>T | CA389037418 | MHRT,MYH7 | c.4889G>A (p.Ser1630Asn) n.329C>T | |
14 | g.23416069T>A | CA389037419 | MHRT,MYH7 | c.4888A>T (p.Ser1630Cys) n.330T>A | |
14 | g.23416069T>C | CA389037420 | MHRT,MYH7 | c.4888A>G (p.Ser1630Gly) n.330T>C | |
14 | g.23416069T>G | CA389037421 | MHRT,MYH7 | c.4888A>C (p.Ser1630Arg) n.330T>G | |
14 | g.23416070G>A | CA485766493 | MHRT,MYH7 | c.4887C>T (p.Leu1629=) n.331G>A | |
14 | g.23416070G>C | CA485766494 | MHRT,MYH7 | c.4887C>G (p.Leu1629=) n.331G>C | |
14 | g.23416070G>T | CA485766495 | MHRT,MYH7 | c.4887C>A (p.Leu1629=) n.331G>T | |
14 | g.23416071A= | CA2123465249 | MHRT,MYH7 | c.4886T= (p.Leu1629=) n.332A= | |
14 | g.23416071A>C | CA389037423 | MHRT,MYH7 | c.4886T>G (p.Leu1629Arg) n.332A>C | |
14 | g.23416071A>G | CA207077 | MHRT,MYH7 | c.4886T>C (p.Leu1629Pro) n.332A>G | ClinVar dbSNP |
14 | g.23416071A>T | CA389037422 | MHRT,MYH7 | c.4886T>A (p.Leu1629His) n.332A>T | |
14 | g.23416072G>A | CA389037424 | MHRT,MYH7 | c.4885C>T (p.Leu1629Phe) n.333G>A | |
14 | g.23416072G>C | CA389037425 | MHRT,MYH7 | c.4885C>G (p.Leu1629Val) n.333G>C | |
14 | g.23416072G>T | CA389037426 | MHRT,MYH7 | c.4885C>A (p.Leu1629Ile) n.333G>T | |
14 | g.23416073C>A | CA389037427 | MHRT,MYH7 | c.4884G>T (p.Gln1628His) n.334C>A | |
14 | g.23416073C>G | CA389037428 | MHRT,MYH7 | c.4884G>C (p.Gln1628His) n.334C>G | |
14 | g.23416073C>T | CA485766496 | MHRT,MYH7 | c.4884G>A (p.Gln1628=) n.334C>T | |
14 | g.23416074T>A | CA389037429 | MHRT,MYH7 | c.4883A>T (p.Gln1628Leu) n.335T>A | |
14 | g.23416074T>C | CA389037430 | MHRT,MYH7 | c.4883A>G (p.Gln1628Arg) n.335T>C | |
14 | g.23416074T>G | CA389037431 | MHRT,MYH7 | c.4883A>C (p.Gln1628Pro) n.335T>G |