UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47345814_47346367del | CA2580084293 | MYBPC3 | c.933_1090+396del c.915_1072+396del | ClinVar |
| 11 | g.47346117_47346190del | CA2613392457 | MYBPC3 | c.1090+39_1090+112del (n.1090+39_1090+112del) c.1072+39_1072+112del (n.1072+39_1072+112del) | gnomAD v4 |
| 11 | g.47346135_47346208del | CA2613392479 | MYBPC3 | c.1090+13_1090+86del c.1072+13_1072+86del | gnomAD v4 |
| 11 | g.47346151_47346187dup | CA937657087 | MYBPC3 | c.1090+35_1090+71dup (n.1090+35_1090+71dup) c.1072+35_1072+71dup (n.1072+35_1072+71dup) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47346151_47346187del | CA937657086 | MYBPC3 | c.1090+35_1090+71del (n.1090+35_1090+71del) c.1072+35_1072+71del (n.1072+35_1072+71del) | gnomAD v3 gnomAD v4 |
| 11 | g.47346168G>A | CA599374477 | MYBPC3 | c.1090+39C>T (n.1090+39C>T) c.1072+39C>T (n.1072+39C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346168G= | CA1969339399 | MYBPC3 | c.1090+39C= (n.1090+39C=) c.1072+39C= (n.1072+39C=) | |
| 11 | g.47346168G>T | CA2574816275 | MYBPC3 | c.1090+39C>A (n.1090+39C>A) c.1072+39C>A (n.1072+39C>A) | |
| 11 | g.47346169C>A | CA221700663 | MYBPC3 | c.1090+38G>T (n.1090+38G>T) c.1072+38G>T (n.1072+38G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346169C= | CA1969339400 | MYBPC3 | c.1090+38G= (n.1090+38G=) c.1072+38G= (n.1072+38G=) | |
| 11 | g.47346172G>A | CA1969339402 | MYBPC3 | c.1090+35C>T (n.1090+35C>T) c.1072+35C>T (n.1072+35C>T) | dbSNP |
| 11 | g.47346172G= | CA1969339401 | MYBPC3 | c.1090+35C= (n.1090+35C=) c.1072+35C= (n.1072+35C=) | |
| 11 | g.47346173T>C | CA2613392500 | MYBPC3 | c.1090+34A>G (n.1090+34A>G) c.1072+34A>G (n.1072+34A>G) | gnomAD v4 |
| 11 | g.47346174G>A | CA2613392501 | MYBPC3 | c.1090+33C>T (n.1090+33C>T) c.1072+33C>T (n.1072+33C>T) | gnomAD v4 |
| 11 | g.47346175C>T | CA2613392502 | MYBPC3 | c.1090+32G>A (n.1090+32G>A) c.1072+32G>A (n.1072+32G>A) | gnomAD v4 |
| 11 | g.47346176C= | CA1969339403 | MYBPC3 | c.1090+31G= (n.1090+31G=) c.1072+31G= (n.1072+31G=) | |
| 11 | g.47346176C>T | CA042416 | MYBPC3 | c.1090+31G>A (n.1090+31G>A) c.1072+31G>A (n.1072+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47346177C= | CA1969339404 | MYBPC3 | c.1090+30G= (n.1090+30G=) c.1072+30G= (n.1072+30G=) | |
| 11 | g.47346177C>G | CA2574816277 | MYBPC3 | c.1090+30G>C (n.1090+30G>C) c.1072+30G>C (n.1072+30G>C) | |
| 11 | g.47346177C>T | CA042405 | MYBPC3 | c.1090+30G>A (n.1090+30G>A) c.1072+30G>A (n.1072+30G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47346178T>C | CA042389 | MYBPC3 | c.1090+29A>G (n.1090+29A>G) c.1072+29A>G (n.1072+29A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346178T= | CA1969339405 | MYBPC3 | c.1090+29A= (n.1090+29A=) c.1072+29A= (n.1072+29A=) | |
| 11 | g.47346180T>C | CA042380 | MYBPC3 | c.1090+27A>G (n.1090+27A>G) c.1072+27A>G (n.1072+27A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346180T= | CA1969339406 | MYBPC3 | c.1090+27A= (n.1090+27A=) c.1072+27A= (n.1072+27A=) | |
| 11 | g.47346181C>A | CA599374478 | MYBPC3 | c.1090+26G>T (n.1090+26G>T) c.1072+26G>T (n.1072+26G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346181C= | CA1969339407 | MYBPC3 | c.1090+26G= (n.1090+26G=) c.1072+26G= (n.1072+26G=) | |
| 11 | g.47346181C>T | CA2613392503 | MYBPC3 | c.1090+26G>A (n.1090+26G>A) c.1072+26G>A (n.1072+26G>A) | gnomAD v4 |
| 11 | g.47346182C>A | CA2613392504 | MYBPC3 | c.1090+25G>T (n.1090+25G>T) c.1072+25G>T (n.1072+25G>T) | gnomAD v4 |
| 11 | g.47346182C>T | CA2613392505 | MYBPC3 | c.1090+25G>A (n.1090+25G>A) c.1072+25G>A (n.1072+25G>A) | gnomAD v4 |
| 11 | g.47346187C>A | CA221700721 | MYBPC3 | c.1090+20G>T (n.1090+20G>T) c.1072+20G>T (n.1072+20G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47346187C= | CA1969339408 | MYBPC3 | c.1090+20G= (n.1090+20G=) c.1072+20G= (n.1072+20G=) | |
| 11 | g.47346187C>T | CA2613392506 | MYBPC3 | c.1090+20G>A (n.1090+20G>A) c.1072+20G>A (n.1072+20G>A) | gnomAD v4 |
| 11 | g.47346188C>A | CA042371 | MYBPC3 | c.1090+19G>T (n.1090+19G>T) c.1072+19G>T (n.1072+19G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47346188C= | CA1969339409 | MYBPC3 | c.1090+19G= (n.1090+19G=) c.1072+19G= (n.1072+19G=) | |
| 11 | g.47346188C>T | CA2613392507 | MYBPC3 | c.1090+19G>A (n.1090+19G>A) c.1072+19G>A (n.1072+19G>A) | gnomAD v4 |
| 11 | g.47346189C= | CA1969339410 | MYBPC3 | c.1090+18G= (n.1090+18G=) c.1072+18G= (n.1072+18G=) | |
| 11 | g.47346189C>T | CA042361 | MYBPC3 | c.1090+18G>A (n.1090+18G>A) c.1072+18G>A (n.1072+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47346191C= | CA1969339411 | MYBPC3 | c.1090+16G= (n.1090+16G=) c.1072+16G= (n.1072+16G=) | |
| 11 | g.47346191C>T | CA221700725 | MYBPC3 | c.1090+16G>A (n.1090+16G>A) c.1072+16G>A (n.1072+16G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346192T>C | CA2613392509 | MYBPC3 | c.1090+15A>G (n.1090+15A>G) c.1072+15A>G (n.1072+15A>G) | gnomAD v4 |
| 11 | g.47346194A>G | CA2613392510 | MYBPC3 | c.1090+13T>C (n.1090+13T>C) c.1072+13T>C (n.1072+13T>C) | gnomAD v4 |
| 11 | g.47346196G>A | CA2574816279 | MYBPC3 | c.1090+11C>T (n.1090+11C>T) c.1072+11C>T (n.1072+11C>T) | |
| 11 | g.47346198del | CA2613392511 | MYBPC3 | c.1090+10del (n.1090+10del) c.1072+10del (n.1072+10del) | gnomAD v4 |
| 11 | g.47346199G>A | CA042464 | MYBPC3 | c.1090+8C>T (n.1090+8C>T) c.1072+8C>T (n.1072+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346199G= | CA1969339412 | MYBPC3 | c.1090+8C= (n.1090+8C=) c.1072+8C= (n.1072+8C=) | |
| 11 | g.47346199G>T | CA2574816283 | MYBPC3 | c.1090+8C>A (n.1090+8C>A) c.1072+8C>A (n.1072+8C>A) | gnomAD v4 |
| 11 | g.47346201G>A | CA2613392512 | MYBPC3 | c.1090+6C>T (n.1090+6C>T) c.1072+6C>T (n.1072+6C>T) | gnomAD v4 |
| 11 | g.47346201G>C | CA1969339414 | MYBPC3 | c.1090+6C>G (n.1090+6C>G) c.1072+6C>G (n.1072+6C>G) | dbSNP |
| 11 | g.47346201G= | CA1969339413 | MYBPC3 | c.1090+6C= (n.1090+6C=) c.1072+6C= (n.1072+6C=) | |
| 11 | g.47346205A= | CA1969339415 | MYBPC3 | c.1090+2T= (n.1090+2T=) c.1072+2T= (n.1072+2T=) | |
| 11 | g.47346205A>C | CA009758 | MYBPC3 | c.1090+2T>G (n.1090+2T>G) c.1072+2T>G (n.1072+2T>G) | ClinVar dbSNP |
| 11 | g.47346205A>G | CA380330843 | MYBPC3 | c.1090+2T>C (n.1090+2T>C) c.1072+2T>C (n.1072+2T>C) | dbSNP |
| 11 | g.47346205A>T | CA380330848 | MYBPC3 | c.1090+2T>A (n.1090+2T>A) c.1072+2T>A (n.1072+2T>A) | |
| 11 | g.47346206C>A | CA009753 | MYBPC3 | c.1090+1G>T (n.1090+1G>T) c.1072+1G>T (n.1072+1G>T) | ClinVar dbSNP gnomAD v2 |
| 11 | g.47346206C= | CA1969339416 | MYBPC3 | c.1090+1G= (n.1090+1G=) c.1072+1G= (n.1072+1G=) | |
| 11 | g.47346206C>G | CA380330859 | MYBPC3 | c.1090+1G>C (n.1090+1G>C) c.1072+1G>C (n.1072+1G>C) | ClinVar dbSNP |
| 11 | g.47346206C>T | CA009749 | MYBPC3 | c.1090+1G>A (n.1090+1G>A) c.1072+1G>A (n.1072+1G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346207C>A | CA380330864 | MYBPC3 | c.1090G>T (p.Ala364Ser) c.1072G>T (p.Ala358Ser) | |
| 11 | g.47346207C= | CA1969339417 | MYBPC3 | c.1090G= (p.Ala364=) c.1072G= (p.Ala358=) | |
| 11 | g.47346207C>G | CA009764 | MYBPC3 | c.1090G>C (p.Ala364Pro) c.1072G>C (p.Ala358Pro) | ClinVar dbSNP |
| 11 | g.47346207C>T | CA221700759 | MYBPC3 | c.1090G>A (p.Ala364Thr) c.1072G>A (p.Ala358Thr) | ClinVar dbSNP |
| 11 | g.47346208T>A | CA474220743 | MYBPC3 | c.1089A>T (p.Thr363=) c.1071A>T (p.Thr357=) | |
| 11 | g.47346208T>C | CA474220742 | MYBPC3 | c.1089A>G (p.Thr363=) c.1071A>G (p.Thr357=) | gnomAD v4 |
| 11 | g.47346208T>G | CA474220741 | MYBPC3 | c.1089A>C (p.Thr363=) c.1071A>C (p.Thr357=) | |
| 11 | g.47346209G>A | CA380330877 | MYBPC3 | c.1088C>T (p.Thr363Ile) c.1070C>T (p.Thr357Ile) | |
| 11 | g.47346209G>C | CA380330881 | MYBPC3 | c.1088C>G (p.Thr363Arg) c.1070C>G (p.Thr357Arg) | |
| 11 | g.47346209G>T | CA380330887 | MYBPC3 | c.1088C>A (p.Thr363Lys) c.1070C>A (p.Thr357Lys) | |
| 11 | g.47346210T>A | CA380330892 | MYBPC3 | c.1087A>T (p.Thr363Ser) c.1069A>T (p.Thr357Ser) | |
| 11 | g.47346210T>C | CA380330894 | MYBPC3 | c.1087A>G (p.Thr363Ala) c.1069A>G (p.Thr357Ala) | COSMIC COSMIC |
| 11 | g.47346210T>G | CA380330895 | MYBPC3 | c.1087A>C (p.Thr363Pro) c.1069A>C (p.Thr357Pro) | |
| 11 | g.47346211G>A | CA474220747 | MYBPC3 | c.1086C>T (p.Ser362=) c.1068C>T (p.Ser356=) | ClinVar |
| 11 | g.47346211G>C | CA380330896 | MYBPC3 | c.1086C>G (p.Ser362Arg) c.1068C>G (p.Ser356Arg) | |
| 11 | g.47346211G>T | CA380330897 | MYBPC3 | c.1086C>A (p.Ser362Arg) c.1068C>A (p.Ser356Arg) | COSMIC |
| 11 | g.47346212C>A | CA380330900 | MYBPC3 | c.1085G>T (p.Ser362Ile) c.1067G>T (p.Ser356Ile) | |
| 11 | g.47346212C= | CA1969339418 | MYBPC3 | c.1085G= (p.Ser362=) c.1067G= (p.Ser356=) | |
| 11 | g.47346212C>G | CA380330903 | MYBPC3 | c.1085G>C (p.Ser362Thr) c.1067G>C (p.Ser356Thr) | gnomAD v4 |
| 11 | g.47346212C>T | CA380330913 | MYBPC3 | c.1085G>A (p.Ser362Asn) c.1067G>A (p.Ser356Asn) | gnomAD v4 |
| 11 | g.47346212_47346215delinsCTCT | CA1969339419 | MYBPC3 | c.1082_1085delinsAGAG (p.Lys361=) c.1064_1067delinsAGAG (p.Lys355=) | |
| 11 | g.47346213T>A | CA380330930 | MYBPC3 | c.1084A>T (p.Ser362Cys) c.1066A>T (p.Ser356Cys) | |
| 11 | g.47346213T>C | CA009745 | MYBPC3 | c.1084A>G (p.Ser362Gly) c.1066A>G (p.Ser356Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47346213T>G | CA380330923 | MYBPC3 | c.1084A>C (p.Ser362Arg) c.1066A>C (p.Ser356Arg) | ClinVar dbSNP |
| 11 | g.47346213T= | CA1969339420 | MYBPC3 | c.1084A= (p.Ser362=) c.1066A= (p.Ser356=) | |
| 11 | g.47346213dup | CA296499 | MYBPC3 | c.1084dup (p.Ser362LysfsTer28) c.1066dup (p.Ser356LysfsTer28) | ClinVar dbSNP |
| 11 | g.47346219_47346221del | CA042311 | MYBPC3 | c.1082_1084del (p.Lys361del) c.1064_1066del (p.Lys355del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346214C>A | CA380330936 | MYBPC3 | c.1083G>T (p.Lys361Asn) c.1065G>T (p.Lys355Asn) | |
| 11 | g.47346214C= | CA1969339421 | MYBPC3 | c.1083G= (p.Lys361=) c.1065G= (p.Lys355=) | |
| 11 | g.47346214C>G | CA380330939 | MYBPC3 | c.1083G>C (p.Lys361Asn) c.1065G>C (p.Lys355Asn) | |
| 11 | g.47346214C>T | CA221700782 | MYBPC3 | c.1083G>A (p.Lys361=) c.1065G>A (p.Lys355=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346215T>A | CA380330942 | MYBPC3 | c.1082A>T (p.Lys361Met) c.1064A>T (p.Lys355Met) | |
| 11 | g.47346215T>C | CA380330944 | MYBPC3 | c.1082A>G (p.Lys361Arg) c.1064A>G (p.Lys355Arg) | ClinVar dbSNP |
| 11 | g.47346215T>G | CA380330946 | MYBPC3 | c.1082A>C (p.Lys361Thr) c.1064A>C (p.Lys355Thr) | |
| 11 | g.47346215T= | CA1969339423 | MYBPC3 | c.1082A= (p.Lys361=) c.1064A= (p.Lys355=) | |
| 11 | g.47346216T>A | CA380330950 | MYBPC3 | c.1081A>T (p.Lys361Ter) c.1063A>T (p.Lys355Ter) | gnomAD v4 |
| 11 | g.47346216T>C | CA380330956 | MYBPC3 | c.1081A>G (p.Lys361Glu) c.1063A>G (p.Lys355Glu) | |
| 11 | g.47346216T>G | CA380330955 | MYBPC3 | c.1081A>C (p.Lys361Gln) c.1063A>C (p.Lys355Gln) | |
| 11 | g.47346217C>A | CA380330958 | MYBPC3 | c.1080G>T (p.Lys360Asn) c.1062G>T (p.Lys354Asn) | |
| 11 | g.47346217C= | CA1969339426 | MYBPC3 | c.1080G= (p.Lys360=) c.1062G= (p.Lys354=) | |
| 11 | g.47346217C>G | CA009741 | MYBPC3 | c.1080G>C (p.Lys360Asn) c.1062G>C (p.Lys354Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346217C>T | CA474220757 | MYBPC3 | c.1080G>A (p.Lys360=) c.1062G>A (p.Lys354=) | |
| 11 | g.47346218T>A | CA380330963 | MYBPC3 | c.1079A>T (p.Lys360Met) c.1061A>T (p.Lys354Met) | |
| 11 | g.47346218T>C | CA380330964 | MYBPC3 | c.1079A>G (p.Lys360Arg) c.1061A>G (p.Lys354Arg) | gnomAD v4 |
| 11 | g.47346218T>G | CA380330969 | MYBPC3 | c.1079A>C (p.Lys360Thr) c.1061A>C (p.Lys354Thr) | |
| 11 | g.47346219T>A | CA380330972 | MYBPC3 | c.1078A>T (p.Lys360Ter) c.1060A>T (p.Lys354Ter) | |
| 11 | g.47346219T>C | CA380330974 | MYBPC3 | c.1078A>G (p.Lys360Glu) c.1060A>G (p.Lys354Glu) | |
| 11 | g.47346219T>G | CA380330978 | MYBPC3 | c.1078A>C (p.Lys360Gln) c.1060A>C (p.Lys354Gln) | dbSNP gnomAD v2 |
| 11 | g.47346219T= | CA1969339427 | MYBPC3 | c.1078A= (p.Lys360=) c.1060A= (p.Lys354=) | |
| 11 | g.47346219_47346222delinsTCTC | CA1969339428 | MYBPC3 | c.1075_1078delinsGAGA (p.Glu359=) c.1057_1060delinsGAGA (p.Glu353=) | |
| 11 | g.47346220C>A | CA380330980 | MYBPC3 | c.1077G>T (p.Glu359Asp) c.1059G>T (p.Glu353Asp) | |
| 11 | g.47346220C>G | CA380330982 | MYBPC3 | c.1077G>C (p.Glu359Asp) c.1059G>C (p.Glu353Asp) | |
| 11 | g.47346220C>T | CA474220767 | MYBPC3 | c.1077G>A (p.Glu359=) c.1059G>A (p.Glu353=) | ClinVar gnomAD v4 COSMIC COSMIC |
| 11 | g.47346220_47346222del | CA1969339430 | MYBPC3 | c.1075_1077del (p.Glu359del) c.1057_1059del (p.Glu353del) | dbSNP |
| 11 | g.47346221T>A | CA380330993 | MYBPC3 | c.1076A>T (p.Glu359Val) c.1058A>T (p.Glu353Val) | |
| 11 | g.47346221T>C | CA380330989 | MYBPC3 | c.1076A>G (p.Glu359Gly) c.1058A>G (p.Glu353Gly) | ClinVar dbSNP |
| 11 | g.47346221T>G | CA380330988 | MYBPC3 | c.1076A>C (p.Glu359Ala) c.1058A>C (p.Glu353Ala) | |
| 11 | g.47346221T= | CA1969339432 | MYBPC3 | c.1076A= (p.Glu359=) c.1058A= (p.Glu353=) | |
| 11 | g.47346222C>A | CA10576892 | MYBPC3 | c.1075G>T (p.Glu359Ter) c.1057G>T (p.Glu353Ter) | ClinVar dbSNP |
| 11 | g.47346222C= | CA1969339438 | MYBPC3 | c.1075G= (p.Glu359=) c.1057G= (p.Glu353=) | |
| 11 | g.47346222C>G | CA380330998 | MYBPC3 | c.1075G>C (p.Glu359Gln) c.1057G>C (p.Glu353Gln) | |
| 11 | g.47346222C>T | CA380331001 | MYBPC3 | c.1075G>A (p.Glu359Lys) c.1057G>A (p.Glu353Lys) | dbSNP gnomAD v4 |
| 11 | g.47346223A= | CA1969339444 | MYBPC3 | c.1074T= (p.Asp358=) c.1056T= (p.Asp352=) | |
| 11 | g.47346223A>C | CA380331003 | MYBPC3 | c.1074T>G (p.Asp358Glu) c.1056T>G (p.Asp352Glu) | |
| 11 | g.47346223A>G | CA474220774 | MYBPC3 | c.1074T>C (p.Asp358=) c.1056T>C (p.Asp352=) | dbSNP gnomAD v2 |
| 11 | g.47346223A>T | CA042264 | MYBPC3 | c.1074T>A (p.Asp358Glu) c.1056T>A (p.Asp352Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346224T>A | CA380331010 | MYBPC3 | c.1073A>T (p.Asp358Val) c.1055A>T (p.Asp352Val) | |
| 11 | g.47346224T>C | CA380331007 | MYBPC3 | c.1073A>G (p.Asp358Gly) c.1055A>G (p.Asp352Gly) | |
| 11 | g.47346224T>G | CA380331005 | MYBPC3 | c.1073A>C (p.Asp358Ala) c.1055A>C (p.Asp352Ala) | COSMIC COSMIC |
| 11 | g.47346224_47346228delinsTCGCG | CA1969339447 | MYBPC3 | c.1069_1073delinsCGCGA (p.Arg357=) c.1051_1055delinsCGCGA (p.Arg351=) | |
| 11 | g.47346225C>A | CA380331012 | MYBPC3 | c.1072G>T (p.Asp358Tyr) c.1054G>T (p.Asp352Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346225C= | CA1969339453 | MYBPC3 | c.1072G= (p.Asp358=) c.1054G= (p.Asp352=) | |
| 11 | g.47346225C>G | CA380331014 | MYBPC3 | c.1072G>C (p.Asp358His) c.1054G>C (p.Asp352His) | |
| 11 | g.47346225C>T | CA042250 | MYBPC3 | c.1072G>A (p.Asp358Asn) c.1054G>A (p.Asp352Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346225_47346228delinsGC | CA009733 | MYBPC3 | c.1069_1072delinsGC (p.Arg357AlafsTer2) c.1051_1054delinsGC (p.Arg351AlafsTer2) | ClinVar dbSNP |
| 11 | g.47346226G>A | CA042236 | MYBPC3 | c.1071C>T (p.Arg357=) c.1053C>T (p.Arg351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346226G>C | CA474220780 | MYBPC3 | c.1071C>G (p.Arg357=) c.1053C>G (p.Arg351=) | dbSNP |
| 11 | g.47346226G= | CA1969339459 | MYBPC3 | c.1071C= (p.Arg357=) c.1053C= (p.Arg351=) | |
| 11 | g.47346226G>T | CA042214 | MYBPC3 | c.1071C>A (p.Arg357=) c.1053C>A (p.Arg351=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346227C>A | CA380331033 | MYBPC3 | c.1070G>T (p.Arg357Leu) c.1052G>T (p.Arg351Leu) | |
| 11 | g.47346227C= | CA1969339465 | MYBPC3 | c.1070G= (p.Arg357=) c.1052G= (p.Arg351=) | |
| 11 | g.47346227C>G | CA380331029 | MYBPC3 | c.1070G>C (p.Arg357Pro) c.1052G>C (p.Arg351Pro) | |
| 11 | g.47346227C>T | CA009737 | MYBPC3 | c.1070G>A (p.Arg357His) c.1052G>A (p.Arg351His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47346228G>A | CA380331037 | MYBPC3 | c.1069C>T (p.Arg357Cys) c.1051C>T (p.Arg351Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47346228G>C | CA380331038 | MYBPC3 | c.1069C>G (p.Arg357Gly) c.1051C>G (p.Arg351Gly) | |
| 11 | g.47346228G= | CA1969339469 | MYBPC3 | c.1069C= (p.Arg357=) c.1051C= (p.Arg351=) | |
| 11 | g.47346228G>T | CA380331039 | MYBPC3 | c.1069C>A (p.Arg357Ser) c.1051C>A (p.Arg351Ser) | |
| 11 | g.47346229C>A | CA380331040 | MYBPC3 | c.1068G>T (p.Arg356Ser) c.1050G>T (p.Arg350Ser) | |
| 11 | g.47346229C= | CA1969339471 | MYBPC3 | c.1068G= (p.Arg356=) c.1050G= (p.Arg350=) | |
| 11 | g.47346229C>G | CA380331041 | MYBPC3 | c.1068G>C (p.Arg356Ser) c.1050G>C (p.Arg350Ser) | |
| 11 | g.47346229C>T | CA474220786 | MYBPC3 | c.1068G>A (p.Arg356=) c.1050G>A (p.Arg350=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346230C>A | CA380331043 | MYBPC3 | c.1067G>T (p.Arg356Met) c.1049G>T (p.Arg350Met) | dbSNP COSMIC COSMIC |
| 11 | g.47346230C= | CA1969339475 | MYBPC3 | c.1067G= (p.Arg356=) c.1049G= (p.Arg350=) | |
| 11 | g.47346230C>G | CA380331045 | MYBPC3 | c.1067G>C (p.Arg356Thr) c.1049G>C (p.Arg350Thr) | |
| 11 | g.47346230C>T | CA380331053 | MYBPC3 | c.1067G>A (p.Arg356Lys) c.1049G>A (p.Arg350Lys) | dbSNP |
| 11 | g.47346231T>A | CA380331056 | MYBPC3 | c.1066A>T (p.Arg356Trp) c.1048A>T (p.Arg350Trp) | |
| 11 | g.47346231T>C | CA380331060 | MYBPC3 | c.1066A>G (p.Arg356Gly) c.1048A>G (p.Arg350Gly) | |
| 11 | g.47346231T>G | CA474220790 | MYBPC3 | c.1066A>C (p.Arg356=) c.1048A>C (p.Arg350=) | |
| 11 | g.47346232C>A | CA380331068 | MYBPC3 | c.1065G>T (p.Met355Ile) c.1047G>T (p.Met349Ile) | |
| 11 | g.47346232C>G | CA380331071 | MYBPC3 | c.1065G>C (p.Met355Ile) c.1047G>C (p.Met349Ile) | |
| 11 | g.47346232C>T | CA380331072 | MYBPC3 | c.1065G>A (p.Met355Ile) c.1047G>A (p.Met349Ile) | |
| 11 | g.47346233A>C | CA380331075 | MYBPC3 | c.1064T>G (p.Met355Arg) c.1046T>G (p.Met349Arg) | |
| 11 | g.47346233A>G | CA380331080 | MYBPC3 | c.1064T>C (p.Met355Thr) c.1046T>C (p.Met349Thr) | |
| 11 | g.47346233A>T | CA380331077 | MYBPC3 | c.1064T>A (p.Met355Lys) c.1046T>A (p.Met349Lys) | |
| 11 | g.47346234T>A | CA380331083 | MYBPC3 | c.1063A>T (p.Met355Leu) c.1045A>T (p.Met349Leu) | |
| 11 | g.47346234T>C | CA380331085 | MYBPC3 | c.1063A>G (p.Met355Val) c.1045A>G (p.Met349Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346234T>G | CA380331086 | MYBPC3 | c.1063A>C (p.Met355Leu) c.1045A>C (p.Met349Leu) | |
| 11 | g.47346234T= | CA1969339481 | MYBPC3 | c.1063A= (p.Met355=) c.1045A= (p.Met349=) | |
| 11 | g.47346235G>A | CA474220796 | MYBPC3 | c.1062C>T (p.Gly354=) c.1044C>T (p.Gly348=) | dbSNP |
| 11 | g.47346235G>C | CA474220797 | MYBPC3 | c.1062C>G (p.Gly354=) c.1044C>G (p.Gly348=) | |
| 11 | g.47346235G= | CA1969339484 | MYBPC3 | c.1062C= (p.Gly354=) c.1044C= (p.Gly348=) | |
| 11 | g.47346235G>T | CA474220795 | MYBPC3 | c.1062C>A (p.Gly354=) c.1044C>A (p.Gly348=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346236C>A | CA380331089 | MYBPC3 | c.1061G>T (p.Gly354Val) c.1043G>T (p.Gly348Val) | ClinVar |
| 11 | g.47346236C= | CA1969339488 | MYBPC3 | c.1061G= (p.Gly354=) c.1043G= (p.Gly348=) | |
| 11 | g.47346236C>G | CA380331091 | MYBPC3 | c.1061G>C (p.Gly354Ala) c.1043G>C (p.Gly348Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346236C>T | CA380331093 | MYBPC3 | c.1061G>A (p.Gly354Asp) c.1043G>A (p.Gly348Asp) | |
| 11 | g.47346237C>A | CA380331105 | MYBPC3 | c.1060G>T (p.Gly354Cys) c.1042G>T (p.Gly348Cys) | |
| 11 | g.47346237C= | CA1969339490 | MYBPC3 | c.1060G= (p.Gly354=) c.1042G= (p.Gly348=) | |
| 11 | g.47346237C>G | CA380331095 | MYBPC3 | c.1060G>C (p.Gly354Arg) c.1042G>C (p.Gly348Arg) | |
| 11 | g.47346237C>T | CA380331103 | MYBPC3 | c.1060G>A (p.Gly354Ser) c.1042G>A (p.Gly348Ser) | dbSNP gnomAD v4 |
| 11 | g.47346238C>A | CA380331109 | MYBPC3 | c.1059G>T (p.Lys353Asn) c.1041G>T (p.Lys347Asn) | |
| 11 | g.47346238C>G | CA380331111 | MYBPC3 | c.1059G>C (p.Lys353Asn) c.1041G>C (p.Lys347Asn) | |
| 11 | g.47346238C>T | CA474220800 | MYBPC3 | c.1059G>A (p.Lys353=) c.1041G>A (p.Lys347=) | |
| 11 | g.47346239T>A | CA380331113 | MYBPC3 | c.1058A>T (p.Lys353Met) c.1040A>T (p.Lys347Met) | |
| 11 | g.47346239T>C | CA380331115 | MYBPC3 | c.1058A>G (p.Lys353Arg) c.1040A>G (p.Lys347Arg) | |
| 11 | g.47346239T>G | CA380331119 | MYBPC3 | c.1058A>C (p.Lys353Thr) c.1040A>C (p.Lys347Thr) | |
| 11 | g.47346240del | CA2580084165 | MYBPC3 | c.1058del (p.Lys353ArgfsTer3) c.1040del (p.Lys347ArgfsTer3) | ClinVar |
| 11 | g.47346240T>A | CA380331122 | MYBPC3 | c.1057A>T (p.Lys353Ter) c.1039A>T (p.Lys347Ter) | |
| 11 | g.47346240T>C | CA380331129 | MYBPC3 | c.1057A>G (p.Lys353Glu) c.1039A>G (p.Lys347Glu) | |
| 11 | g.47346240T>G | CA380331126 | MYBPC3 | c.1057A>C (p.Lys353Gln) c.1039A>C (p.Lys347Gln) | |
| 11 | g.47346241G>A | CA474220808 | MYBPC3 | c.1056C>T (p.Leu352=) c.1038C>T (p.Leu346=) | |
| 11 | g.47346241G>C | CA042179 | MYBPC3 | c.1056C>G (p.Leu352=) c.1038C>G (p.Leu346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346241G= | CA1969339495 | MYBPC3 | c.1056C= (p.Leu352=) c.1038C= (p.Leu346=) | |
| 11 | g.47346241G>T | CA474220805 | MYBPC3 | c.1056C>A (p.Leu352=) c.1038C>A (p.Leu346=) | |
| 11 | g.47346242A= | CA1969339500 | MYBPC3 | c.1055T= (p.Leu352=) c.1037T= (p.Leu346=) | |
| 11 | g.47346242A>C | CA380331135 | MYBPC3 | c.1055T>G (p.Leu352Arg) c.1037T>G (p.Leu346Arg) | |
| 11 | g.47346242A>G | CA380331137 | MYBPC3 | c.1055T>C (p.Leu352Pro) c.1037T>C (p.Leu346Pro) | ClinVar dbSNP |
| 11 | g.47346242A>T | CA380331140 | MYBPC3 | c.1055T>A (p.Leu352His) c.1037T>A (p.Leu346His) | |
| 11 | g.47346242_47346313delinsAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGT | CA1969339501 | MYBPC3 | c.984_1055delinsACCCCCATCTGAGTACGAGCGCATCGCCTTCCAGTACGGCGTCACTGACCTGCGCGGCATGCTAAAGAGGCT (p.Ala328=) c.966_1037delinsACCCCCATCTGAGTACGAGCGCATCGCCTTCCAGTACGGCGTCACTGACCTGCGCGGCATGCTAAAGAGGCT (p.Ala322=) | |
| 11 | g.47346243G>A | CA380331142 | MYBPC3 | c.1054C>T (p.Leu352Phe) c.1036C>T (p.Leu346Phe) | |
| 11 | g.47346243G>C | CA380331144 | MYBPC3 | c.1054C>G (p.Leu352Val) c.1036C>G (p.Leu346Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47346243G= | CA1969339505 | MYBPC3 | c.1054C= (p.Leu352=) c.1036C= (p.Leu346=) | |
| 11 | g.47346243G>T | CA380331146 | MYBPC3 | c.1054C>A (p.Leu352Ile) c.1036C>A (p.Leu346Ile) | |
| 11 | g.47346243_47346244delinsAA | CA2695213926 | MYBPC3 | c.1053_1054delinsTT (p.Arg351_Leu352delinsSerPhe) c.1035_1036delinsTT (p.Arg345_Leu346delinsSerPhe) | |
| 11 | g.47346247_47346317del | CA016227 | MYBPC3 | c.984_1054del (p.Pro329GlnfsTer7) c.966_1036del (p.Pro323GlnfsTer7) | ClinVar dbSNP |
| 11 | g.47346243_47346244insAA | CA2573051161 | MYBPC3 | c.1053_1054insTT (p.Leu352PhefsTer5) c.1035_1036insTT (p.Leu346PhefsTer5) | |
| 11 | g.47346244C>A | CA380331156 | MYBPC3 | c.1053G>T (p.Arg351Ser) c.1035G>T (p.Arg345Ser) | |
| 11 | g.47346244C= | CA1969339508 | MYBPC3 | c.1053G= (p.Arg351=) c.1035G= (p.Arg345=) | |
| 11 | g.47346244C>G | CA380331159 | MYBPC3 | c.1053G>C (p.Arg351Ser) c.1035G>C (p.Arg345Ser) | ClinVar |
| 11 | g.47346244C>T | CA474220811 | MYBPC3 | c.1053G>A (p.Arg351=) c.1035G>A (p.Arg345=) | ClinVar |
| 11 | g.47346245C>A | CA380331162 | MYBPC3 | c.1052G>T (p.Arg351Met) c.1034G>T (p.Arg345Met) | |
| 11 | g.47346245C>G | CA380331165 | MYBPC3 | c.1052G>C (p.Arg351Thr) c.1034G>C (p.Arg345Thr) | |
| 11 | g.47346245C>T | CA380331163 | MYBPC3 | c.1052G>A (p.Arg351Lys) c.1034G>A (p.Arg345Lys) | gnomAD v4 |
| 11 | g.47346246T>A | CA380331168 | MYBPC3 | c.1051A>T (p.Arg351Trp) c.1033A>T (p.Arg345Trp) | gnomAD v4 |
| 11 | g.47346246T>C | CA380331170 | MYBPC3 | c.1051A>G (p.Arg351Gly) c.1033A>G (p.Arg345Gly) | ClinVar |
| 11 | g.47346246T>G | CA474220816 | MYBPC3 | c.1051A>C (p.Arg351=) c.1033A>C (p.Arg345=) | |
| 11 | g.47346247C>A | CA380331173 | MYBPC3 | c.1050G>T (p.Lys350Asn) c.1032G>T (p.Lys344Asn) | |
| 11 | g.47346247C= | CA1969339512 | MYBPC3 | c.1050G= (p.Lys350=) c.1032G= (p.Lys344=) | |
| 11 | g.47346247C>G | CA380331179 | MYBPC3 | c.1050G>C (p.Lys350Asn) c.1032G>C (p.Lys344Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47346247C>T | CA474220817 | MYBPC3 | c.1050G>A (p.Lys350=) c.1032G>A (p.Lys344=) | COSMIC COSMIC |
| 11 | g.47346248T>A | CA380331181 | MYBPC3 | c.1049A>T (p.Lys350Met) c.1031A>T (p.Lys344Met) | gnomAD v4 |
| 11 | g.47346248T>C | CA380331185 | MYBPC3 | c.1049A>G (p.Lys350Arg) c.1031A>G (p.Lys344Arg) | |
| 11 | g.47346248T>G | CA380331186 | MYBPC3 | c.1049A>C (p.Lys350Thr) c.1031A>C (p.Lys344Thr) | |
| 11 | g.47346250del | CA2580084166 | MYBPC3 | c.1049del (p.Lys350ArgfsTer6) c.1031del (p.Lys344ArgfsTer6) | ClinVar |
| 11 | g.47346249_47346250del | CA2499220980 | MYBPC3 | c.1048_1049del (p.Lys350GlufsTer9) c.1030_1031del (p.Lys344GlufsTer9) | ClinVar dbSNP |
| 11 | g.47346249T>A | CA380331190 | MYBPC3 | c.1048A>T (p.Lys350Ter) c.1030A>T (p.Lys344Ter) | gnomAD v4 |
| 11 | g.47346249T>C | CA380331191 | MYBPC3 | c.1048A>G (p.Lys350Glu) c.1030A>G (p.Lys344Glu) | |
| 11 | g.47346249T>G | CA380331192 | MYBPC3 | c.1048A>C (p.Lys350Gln) c.1030A>C (p.Lys344Gln) | |
| 11 | g.47346250T>A | CA474220822 | MYBPC3 | c.1047A>T (p.Leu349=) c.1029A>T (p.Leu343=) | |
| 11 | g.47346250T>C | CA474220823 | MYBPC3 | c.1047A>G (p.Leu349=) c.1029A>G (p.Leu343=) | gnomAD v4 |
| 11 | g.47346250T>G | CA474220824 | MYBPC3 | c.1047A>C (p.Leu349=) c.1029A>C (p.Leu343=) | |
| 11 | g.47346251A= | CA1969339517 | MYBPC3 | c.1046T= (p.Leu349=) c.1028T= (p.Leu343=) | |
| 11 | g.47346251A>C | CA380331193 | MYBPC3 | c.1046T>G (p.Leu349Arg) c.1028T>G (p.Leu343Arg) | |
| 11 | g.47346251A>G | CA380331195 | MYBPC3 | c.1046T>C (p.Leu349Pro) c.1028T>C (p.Leu343Pro) | dbSNP |
| 11 | g.47346251A>T | CA380331197 | MYBPC3 | c.1046T>A (p.Leu349Gln) c.1028T>A (p.Leu343Gln) | |
| 11 | g.47346252G>A | CA474220826 | MYBPC3 | c.1045C>T (p.Leu349=) c.1027C>T (p.Leu343=) | |
| 11 | g.47346252G>C | CA380331198 | MYBPC3 | c.1045C>G (p.Leu349Val) c.1027C>G (p.Leu343Val) | |
| 11 | g.47346252G>T | CA380331199 | MYBPC3 | c.1045C>A (p.Leu349Ile) c.1027C>A (p.Leu343Ile) | |
| 11 | g.47346253C>A | CA380331200 | MYBPC3 | c.1044G>T (p.Met348Ile) c.1026G>T (p.Met342Ile) | |
| 11 | g.47346253C>G | CA380331202 | MYBPC3 | c.1044G>C (p.Met348Ile) c.1026G>C (p.Met342Ile) | |
| 11 | g.47346253C>T | CA380331204 | MYBPC3 | c.1044G>A (p.Met348Ile) c.1026G>A (p.Met342Ile) | |
| 11 | g.47346254A= | CA1969339518 | MYBPC3 | c.1043T= (p.Met348=) c.1025T= (p.Met342=) | |
| 11 | g.47346254A>C | CA380331209 | MYBPC3 | c.1043T>G (p.Met348Arg) c.1025T>G (p.Met342Arg) | |
| 11 | g.47346254A>G | CA380331208 | MYBPC3 | c.1043T>C (p.Met348Thr) c.1025T>C (p.Met342Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346254A>T | CA380331207 | MYBPC3 | c.1043T>A (p.Met348Lys) c.1025T>A (p.Met342Lys) | |
| 11 | g.47346255T>A | CA380331213 | MYBPC3 | c.1042A>T (p.Met348Leu) c.1024A>T (p.Met342Leu) | |
| 11 | g.47346255T>C | CA380331217 | MYBPC3 | c.1042A>G (p.Met348Val) c.1024A>G (p.Met342Val) | |
| 11 | g.47346255T>G | CA380331220 | MYBPC3 | c.1042A>C (p.Met348Leu) c.1024A>C (p.Met342Leu) | |
| 11 | g.47346255_47346259dup | CA273429 | MYBPC3 | c.1038_1042dup (p.Met348ThrfsTer4) c.1020_1024dup (p.Met342ThrfsTer4) | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.47346256G>A | CA474220832 | MYBPC3 | c.1041C>T (p.Gly347=) c.1023C>T (p.Gly341=) | |
| 11 | g.47346256G>C | CA474220835 | MYBPC3 | c.1041C>G (p.Gly347=) c.1023C>G (p.Gly341=) | |
| 11 | g.47346256G>T | CA474220834 | MYBPC3 | c.1041C>A (p.Gly347=) c.1023C>A (p.Gly341=) | |
| 11 | g.47346257C>A | CA380331226 | MYBPC3 | c.1040G>T (p.Gly347Val) c.1022G>T (p.Gly341Val) | ClinVar dbSNP |
| 11 | g.47346257C= | CA1969339526 | MYBPC3 | c.1040G= (p.Gly347=) c.1022G= (p.Gly341=) | |
| 11 | g.47346257C>G | CA380331232 | MYBPC3 | c.1040G>C (p.Gly347Ala) c.1022G>C (p.Gly341Ala) | |
| 11 | g.47346257C>T | CA380331234 | MYBPC3 | c.1040G>A (p.Gly347Asp) c.1022G>A (p.Gly341Asp) | ClinVar dbSNP |
| 11 | g.47346258C>A | CA380331236 | MYBPC3 | c.1039G>T (p.Gly347Cys) c.1021G>T (p.Gly341Cys) | gnomAD v4 |
| 11 | g.47346258C= | CA1969339530 | MYBPC3 | c.1039G= (p.Gly347=) c.1021G= (p.Gly341=) | |
| 11 | g.47346258C>G | CA380331238 | MYBPC3 | c.1039G>C (p.Gly347Arg) c.1021G>C (p.Gly341Arg) | ClinVar dbSNP |
| 11 | g.47346258C>T | CA009719 | MYBPC3 | c.1039G>A (p.Gly347Ser) c.1021G>A (p.Gly341Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346258_47346259insTGCCG | CA2739291479 | MYBPC3 | c.1038_1039insCGGCA (p.Gly347ArgfsTer5) c.1020_1021insCGGCA (p.Gly341ArgfsTer5) | |
| 11 | g.47346259G>A | CA042114 | MYBPC3 | c.1038C>T (p.Arg346=) c.1020C>T (p.Arg340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346259G>C | CA474220842 | MYBPC3 | c.1038C>G (p.Arg346=) c.1020C>G (p.Arg340=) | |
| 11 | g.47346259G= | CA1969339535 | MYBPC3 | c.1038C= (p.Arg346=) c.1020C= (p.Arg340=) | |
| 11 | g.47346259G>T | CA474220843 | MYBPC3 | c.1038C>A (p.Arg346=) c.1020C>A (p.Arg340=) | |
| 11 | g.47346260C>A | CA380331244 | MYBPC3 | c.1037G>T (p.Arg346Leu) c.1019G>T (p.Arg340Leu) | |
| 11 | g.47346260C= | CA1969339539 | MYBPC3 | c.1037G= (p.Arg346=) c.1019G= (p.Arg340=) | |
| 11 | g.47346260C>G | CA380331248 | MYBPC3 | c.1037G>C (p.Arg346Pro) c.1019G>C (p.Arg340Pro) | |
| 11 | g.47346260C>T | CA009714 | MYBPC3 | c.1037G>A (p.Arg346His) c.1019G>A (p.Arg340His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47346261G>A | CA380331260 | MYBPC3 | c.1036C>T (p.Arg346Cys) c.1018C>T (p.Arg340Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 11 | g.47346261G>C | CA380331264 | MYBPC3 | c.1036C>G (p.Arg346Gly) c.1018C>G (p.Arg340Gly) | ClinVar dbSNP |
| 11 | g.47346261G= | CA1969339543 | MYBPC3 | c.1036C= (p.Arg346=) c.1018C= (p.Arg340=) | |
| 11 | g.47346261G>T | CA380331255 | MYBPC3 | c.1036C>A (p.Arg346Ser) c.1018C>A (p.Arg340Ser) | ClinVar dbSNP |
| 11 | g.47346262C>A | CA474220846 | MYBPC3 | c.1035G>T (p.Leu345=) c.1017G>T (p.Leu339=) | |
| 11 | g.47346262C= | CA1969339548 | MYBPC3 | c.1035G= (p.Leu345=) c.1017G= (p.Leu339=) | |
| 11 | g.47346262C>G | CA474220848 | MYBPC3 | c.1035G>C (p.Leu345=) c.1017G>C (p.Leu339=) | |
| 11 | g.47346262C>T | CA042085 | MYBPC3 | c.1035G>A (p.Leu345=) c.1017G>A (p.Leu339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47346263A= | CA1969339551 | MYBPC3 | c.1034T= (p.Leu345=) c.1016T= (p.Leu339=) | |
| 11 | g.47346263A>C | CA380331267 | MYBPC3 | c.1034T>G (p.Leu345Arg) c.1016T>G (p.Leu339Arg) | |
| 11 | g.47346263A>G | CA380331268 | MYBPC3 | c.1034T>C (p.Leu345Pro) c.1016T>C (p.Leu339Pro) | ClinVar dbSNP |
| 11 | g.47346263A>T | CA380331269 | MYBPC3 | c.1034T>A (p.Leu345Gln) c.1016T>A (p.Leu339Gln) | |
| 11 | g.47346264G>A | CA474220850 | MYBPC3 | c.1033C>T (p.Leu345=) c.1015C>T (p.Leu339=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47346264G>C | CA380331270 | MYBPC3 | c.1033C>G (p.Leu345Val) c.1015C>G (p.Leu339Val) | |
| 11 | g.47346264G= | CA1969339554 | MYBPC3 | c.1033C= (p.Leu345=) c.1015C= (p.Leu339=) | |
| 11 | g.47346264G>T | CA380331271 | MYBPC3 | c.1033C>A (p.Leu345Met) c.1015C>A (p.Leu339Met) | |
| 11 | g.47346264_47346268delinsGGTCA | CA1969339556 | MYBPC3 | c.1029_1033delinsTGACC (p.Thr343=) c.1011_1015delinsTGACC (p.Thr337=) | |
| 11 | g.47346265G>A | CA474220851 | MYBPC3 | c.1032C>T (p.Asp344=) c.1014C>T (p.Asp338=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47346265G>C | CA380331273 | MYBPC3 | c.1032C>G (p.Asp344Glu) c.1014C>G (p.Asp338Glu) | |
| 11 | g.47346265G= | CA1969339560 | MYBPC3 | c.1032C= (p.Asp344=) c.1014C= (p.Asp338=) | |
| 11 | g.47346265G>T | CA380331272 | MYBPC3 | c.1032C>A (p.Asp344Glu) c.1014C>A (p.Asp338Glu) | ClinVar dbSNP |
| 11 | g.47346267_47346270del | CA915948162 | MYBPC3 | c.1029_1032del (p.Asp344CysfsTer5) c.1011_1014del (p.Asp338CysfsTer5) | ClinVar dbSNP |
| 11 | g.47346266T>A | CA380331274 | MYBPC3 | c.1031A>T (p.Asp344Val) c.1013A>T (p.Asp338Val) | |
| 11 | g.47346266T>C | CA380331275 | MYBPC3 | c.1031A>G (p.Asp344Gly) c.1013A>G (p.Asp338Gly) | ClinVar dbSNP |
| 11 | g.47346266T>G | CA380331276 | MYBPC3 | c.1031A>C (p.Asp344Ala) c.1013A>C (p.Asp338Ala) | |
| 11 | g.47346266T= | CA1969339565 | MYBPC3 | c.1031A= (p.Asp344=) c.1013A= (p.Asp338=) | |
| 11 | g.47346267C>A | CA380331278 | MYBPC3 | c.1030G>T (p.Asp344Tyr) c.1012G>T (p.Asp338Tyr) | |
| 11 | g.47346267C= | CA1969339567 | MYBPC3 | c.1030G= (p.Asp344=) c.1012G= (p.Asp338=) | |
| 11 | g.47346267C>G | CA380331279 | MYBPC3 | c.1030G>C (p.Asp344His) c.1012G>C (p.Asp338His) | dbSNP gnomAD v4 |
| 11 | g.47346267C>T | CA380331284 | MYBPC3 | c.1030G>A (p.Asp344Asn) c.1012G>A (p.Asp338Asn) | gnomAD v4 |
| 11 | g.47346268A>C | CA474220858 | MYBPC3 | c.1029T>G (p.Thr343=) c.1011T>G (p.Thr337=) | |
| 11 | g.47346268A>G | CA474220860 | MYBPC3 | c.1029T>C (p.Thr343=) c.1011T>C (p.Thr337=) | |
| 11 | g.47346268A>T | CA474220862 | MYBPC3 | c.1029T>A (p.Thr343=) c.1011T>A (p.Thr337=) | |
| 11 | g.47346268_47346269delinsAG | CA1969339569 | MYBPC3 | c.1028_1029delinsCT (p.Thr343=) c.1010_1011delinsCT (p.Thr337=) |