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 |
|---|---|---|---|---|---|
| 14 | g.23431378G>A | CA613317759 | MYH7 | c.796+40C>T (n.796+40C>T) n.902+40C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431378G>C | CA2624251076 | MYH7 | c.796+40C>G (n.796+40C>G) n.902+40C>G | gnomAD v4 |
| 14 | g.23431378G= | CA2123451259 | MYH7 | c.796+40C= (n.796+40C=) n.902+40C= | |
| 14 | g.23431378G>T | CA2624251077 | MYH7 | c.796+40C>A (n.796+40C>A) n.902+40C>A | gnomAD v4 |
| 14 | g.23431381G>A | CA613317760 | MYH7 | c.796+37C>T (n.796+37C>T) n.902+37C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431381G= | CA2123451263 | MYH7 | c.796+37C= (n.796+37C=) n.902+37C= | |
| 14 | g.23431381G>T | CA2575486770 | MYH7 | c.796+37C>A (n.796+37C>A) n.902+37C>A | gnomAD v4 |
| 14 | g.23431383G>A | CA961070315 | MYH7 | c.796+35C>T (n.796+35C>T) n.902+35C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431383G= | CA2123451268 | MYH7 | c.796+35C= (n.796+35C=) n.902+35C= | |
| 14 | g.23431386T>A | CA2800863657 | MYH7 | c.796+32A>T (n.796+32A>T) n.902+32A>T | |
| 14 | g.23431387A>G | CA2624251078 | MYH7 | c.796+31T>C (n.796+31T>C) n.902+31T>C | gnomAD v4 |
| 14 | g.23431388G>A | CA049123 | MYH7 | c.796+30C>T (n.796+30C>T) n.902+30C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431388G= | CA2123451275 | MYH7 | c.796+30C= (n.796+30C=) n.902+30C= | |
| 14 | g.23431388G>T | CA049117 | MYH7 | c.796+30C>A (n.796+30C>A) n.902+30C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431389G>A | CA2624251080 | MYH7 | c.796+29C>T (n.796+29C>T) n.902+29C>T | gnomAD v4 |
| 14 | g.23431389G>C | CA613317763 | MYH7 | c.796+29C>G (n.796+29C>G) n.902+29C>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431389G= | CA2123451279 | MYH7 | c.796+29C= (n.796+29C=) n.902+29C= | |
| 14 | g.23431389G>T | CA049108 | MYH7 | c.796+29C>A (n.796+29C>A) n.902+29C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431389_23431390delinsGC | CA2123451285 | MYH7 | c.796+28_796+29delinsGC (n.796+28_796+29delinsGC) n.902+28_902+29delinsGC | |
| 14 | g.23431390del | CA2123451299 | MYH7 | c.796+28del (n.796+28del) n.902+28del | dbSNP |
| 14 | g.23431390C>A | CA2123451289 | MYH7 | c.796+28G>T (n.796+28G>T) n.902+28G>T | dbSNP |
| 14 | g.23431390C= | CA2123451293 | MYH7 | c.796+28G= (n.796+28G=) n.902+28G= | |
| 14 | g.23431392G>C | CA2575486774 | MYH7 | c.796+26C>G (n.796+26C>G) n.902+26C>G | gnomAD v4 |
| 14 | g.23431394G>A | CA049098 | MYH7 | c.796+24C>T (n.796+24C>T) n.902+24C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431394G= | CA2123451303 | MYH7 | c.796+24C= (n.796+24C=) n.902+24C= | |
| 14 | g.23431394_23431411delinsGCCTAGCAGATTCATGGC | CA2123451306 | MYH7 | c.796+7_796+24delinsGCCATGAATCTGCTAGGC (n.796+7_796+24delinsGCCATGAATCTGCTAGGC) n.902+7_902+24delinsGCCATGAATCTGCTAGGC | |
| 14 | g.23431395C>A | CA704269171 | MYH7 | c.796+23G>T (n.796+23G>T) n.902+23G>T | dbSNP gnomAD v4 |
| 14 | g.23431395C= | CA2123451313 | MYH7 | c.796+23G= (n.796+23G=) n.902+23G= | |
| 14 | g.23431395C>T | CA257825784 | MYH7 | c.796+23G>A (n.796+23G>A) n.902+23G>A | dbSNP gnomAD v4 |
| 14 | g.23431395_23431411del | CA919376106 | MYH7 | c.796+7_796+23del (n.796+7_796+23del) n.902+7_902+23del | dbSNP gnomAD v4 |
| 14 | g.23431396C>A | CA257825786 | MYH7 | c.796+22G>T (n.796+22G>T) n.902+22G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431396C= | CA2123451322 | MYH7 | c.796+22G= (n.796+22G=) n.902+22G= | |
| 14 | g.23431396C>T | CA613317766 | MYH7 | c.796+22G>A (n.796+22G>A) n.902+22G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431397T>C | CA2624251084 | MYH7 | c.796+21A>G (n.796+21A>G) n.902+21A>G | gnomAD v4 |
| 14 | g.23431398A= | CA2123451328 | MYH7 | c.796+20T= (n.796+20T=) n.902+20T= | |
| 14 | g.23431398A>G | CA613317768 | MYH7 | c.796+20T>C (n.796+20T>C) n.902+20T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431400C>A | CA961070322 | MYH7 | c.796+18G>T (n.796+18G>T) n.902+18G>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431400C= | CA2123451332 | MYH7 | c.796+18G= (n.796+18G=) n.902+18G= | |
| 14 | g.23431400C>T | CA2573149875 | MYH7 | c.796+18G>A (n.796+18G>A) n.902+18G>A | ClinVar dbSNP |
| 14 | g.23431402G= | CA2123451335 | MYH7 | c.796+16C= (n.796+16C=) n.902+16C= | |
| 14 | g.23431402G>T | CA049086 | MYH7 | c.796+16C>A (n.796+16C>A) n.902+16C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431403A= | CA2123451341 | MYH7 | c.796+15T= (n.796+15T=) n.902+15T= | |
| 14 | g.23431403A>G | CA2123451343 | MYH7 | c.796+15T>C (n.796+15T>C) n.902+15T>C | dbSNP |
| 14 | g.23431407A>C | CA2580087884 | MYH7 | c.796+11T>G (n.796+11T>G) n.902+11T>G | ClinVar |
| 14 | g.23431407A>G | CA2624251086 | MYH7 | c.796+11T>C (n.796+11T>C) n.902+11T>C | gnomAD v4 |
| 14 | g.23431407A>T | CA2741360421 | MYH7 | c.796+11T>A (n.796+11T>A) n.902+11T>A | |
| 14 | g.23431408T>C | CA2575486783 | MYH7 | c.796+10A>G (n.796+10A>G) n.902+10A>G | gnomAD v4 |
| 14 | g.23431409G>A | CA2580087885 | MYH7 | c.796+9C>T (n.796+9C>T) n.902+9C>T | ClinVar |
| 14 | g.23431410G>A | CA2624251089 | MYH7 | c.796+8C>T (n.796+8C>T) n.902+8C>T | gnomAD v4 |
| 14 | g.23431410G>C | CA2697553855 | MYH7 | c.796+8C>G (n.796+8C>G) n.902+8C>G | ClinVar |
| 14 | g.23431411C= | CA2123451350 | MYH7 | c.796+7G= (n.796+7G=) n.902+7G= | |
| 14 | g.23431411C>T | CA016839 | MYH7 | c.796+7G>A (n.796+7G>A) n.902+7G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431414T>A | CA2123451370 | MYH7 | c.796+4A>T (n.796+4A>T) n.902+4A>T | dbSNP |
| 14 | g.23431414T>C | CA1139663379 | MYH7 | c.796+4A>G (n.796+4A>G) n.902+4A>G | ClinVar dbSNP |
| 14 | g.23431414T= | CA2123451367 | MYH7 | c.796+4A= (n.796+4A=) n.902+4A= | |
| 14 | g.23431415C= | CA2123451386 | MYH7 | c.796+3G= (n.796+3G=) n.902+3G= | |
| 14 | g.23431415C>G | CA257825799 | MYH7 | c.796+3G>C (n.796+3G>C) n.902+3G>C | dbSNP |
| 14 | g.23431415C>T | CA2123451394 | MYH7 | c.796+3G>A (n.796+3G>A) n.902+3G>A | dbSNP gnomAD v4 |
| 14 | g.23431416A>C | CA389052032 | MYH7 | c.796+2T>G (n.796+2T>G) n.902+2T>G | |
| 14 | g.23431416A>G | CA389052033 | MYH7 | c.796+2T>C (n.796+2T>C) n.902+2T>C | |
| 14 | g.23431416A>T | CA389052031 | MYH7 | c.796+2T>A (n.796+2T>A) n.902+2T>A | |
| 14 | g.23431417C>A | CA389052034 | MYH7 | c.796+1G>T (n.796+1G>T) n.902+1G>T | |
| 14 | g.23431417C= | CA2123451399 | MYH7 | c.796+1G= (n.796+1G=) n.902+1G= | |
| 14 | g.23431417C>G | CA389052035 | MYH7 | c.796+1G>C (n.796+1G>C) n.902+1G>C | |
| 14 | g.23431417C>T | CA257825801 | MYH7 | c.796+1G>A (n.796+1G>A) n.902+1G>A | dbSNP |
| 14 | g.23431418A>C | CA389052036 | MYH7 | c.796T>G (p.Tyr266Asp) n.902T>G | |
| 14 | g.23431418A>G | CA389052037 | MYH7 | c.796T>C (p.Tyr266His) n.902T>C | |
| 14 | g.23431418A>T | CA389052038 | MYH7 | c.796T>A (p.Tyr266Asn) n.902T>A | |
| 14 | g.23431419G>A | CA485767195 | MYH7 | c.795C>T (p.Thr265=) n.901C>T | |
| 14 | g.23431419G>C | CA485767193 | MYH7 | c.795C>G (p.Thr265=) n.901C>G | |
| 14 | g.23431419G>T | CA485767194 | MYH7 | c.795C>A (p.Thr265=) n.901C>A | |
| 14 | g.23431420G>A | CA389052040 | MYH7 | c.794C>T (p.Thr265Ile) n.900C>T | ClinVar dbSNP |
| 14 | g.23431420G>C | CA389052039 | MYH7 | c.794C>G (p.Thr265Ser) n.900C>G | |
| 14 | g.23431420G= | CA2123451405 | MYH7 | c.794C= (p.Thr265=) n.900C= | |
| 14 | g.23431420G>T | CA10581179 | MYH7 | c.794C>A (p.Thr265Asn) n.900C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431421T>A | CA016835 | MYH7 | c.793A>T (p.Thr265Ser) n.899A>T | ClinVar dbSNP |
| 14 | g.23431421T>C | CA389052041 | MYH7 | c.793A>G (p.Thr265Ala) n.899A>G | |
| 14 | g.23431421T>G | CA389052042 | MYH7 | c.793A>C (p.Thr265Pro) n.899A>C | |
| 14 | g.23431421T= | CA2123451413 | MYH7 | c.793A= (p.Thr265=) n.899A= | |
| 14 | g.23431424_23431425del | CA2575486794 | MYH7 | c.792_793del (p.Glu264AspfsTer28) n.898_899del | |
| 14 | g.23431422C>A | CA389052043 | MYH7 | c.792G>T (p.Glu264Asp) n.898G>T | |
| 14 | g.23431422C>G | CA389052044 | MYH7 | c.792G>C (p.Glu264Asp) n.898G>C | |
| 14 | g.23431422C>T | CA485767201 | MYH7 | c.792G>A (p.Glu264=) n.898G>A | |
| 14 | g.23431423T>A | CA389052045 | MYH7 | c.791A>T (p.Glu264Val) n.897A>T | |
| 14 | g.23431423T>C | CA389052047 | MYH7 | c.791A>G (p.Glu264Gly) n.897A>G | |
| 14 | g.23431423T>G | CA389052046 | MYH7 | c.791A>C (p.Glu264Ala) n.897A>C | |
| 14 | g.23431424C>A | CA389052048 | MYH7 | c.790G>T (p.Glu264Ter) n.896G>T | |
| 14 | g.23431424C>G | CA389052049 | MYH7 | c.790G>C (p.Glu264Gln) n.896G>C | |
| 14 | g.23431424C>T | CA389052050 | MYH7 | c.790G>A (p.Glu264Lys) n.896G>A | ClinVar COSMIC |
| 14 | g.23431424_23431426delinsCTA | CA2123451420 | MYH7 | c.788_790delinsTAG (p.Ile263=) n.894_896delinsTAG | |
| 14 | g.23431425T>A | CA485767208 | MYH7 | c.789A>T (p.Ile263=) n.895A>T | |
| 14 | g.23431425T>C | CA016828 | MYH7 | c.789A>G (p.Ile263Met) n.895A>G | ClinVar dbSNP |
| 14 | g.23431425T>G | CA485767211 | MYH7 | c.789A>C (p.Ile263=) n.895A>C | |
| 14 | g.23431425T= | CA2123451428 | MYH7 | c.789A= (p.Ile263=) n.895A= | |
| 14 | g.23431426_23431427del | CA2123451427 | MYH7 | c.788_789del (p.Ile263ArgfsTer29) n.894_895del | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431426A= | CA2123451436 | MYH7 | c.788T= (p.Ile263=) n.894T= | |
| 14 | g.23431426A>C | CA389052051 | MYH7 | c.788T>G (p.Ile263Arg) n.894T>G | |
| 14 | g.23431426A>G | CA016824 | MYH7 | c.788T>C (p.Ile263Thr) n.894T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431426A>T | CA389052052 | MYH7 | c.788T>A (p.Ile263Lys) n.894T>A | |
| 14 | g.23431427T>A | CA389052053 | MYH7 | c.787A>T (p.Ile263Leu) n.893A>T | |
| 14 | g.23431427T>C | CA389052054 | MYH7 | c.787A>G (p.Ile263Val) n.893A>G | |
| 14 | g.23431427T>G | CA389052055 | MYH7 | c.787A>C (p.Ile263Leu) n.893A>C | ClinVar dbSNP |
| 14 | g.23431428G>A | CA485767220 | MYH7 | c.786C>T (p.Asp262=) n.892C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431428G>C | CA389052056 | MYH7 | c.786C>G (p.Asp262Glu) n.892C>G | |
| 14 | g.23431428G= | CA2123451447 | MYH7 | c.786C= (p.Asp262=) n.892C= | |
| 14 | g.23431428G>T | CA389052057 | MYH7 | c.786C>A (p.Asp262Glu) n.892C>A | |
| 14 | g.23431429T>A | CA389052058 | MYH7 | c.785A>T (p.Asp262Val) n.891A>T | |
| 14 | g.23431429T>C | CA389052060 | MYH7 | c.785A>G (p.Asp262Gly) n.891A>G | COSMIC |
| 14 | g.23431429T>G | CA389052059 | MYH7 | c.785A>C (p.Asp262Ala) n.891A>C | |
| 14 | g.23431430C>A | CA389052061 | MYH7 | c.784G>T (p.Asp262Tyr) n.890G>T | |
| 14 | g.23431430C= | CA2123451452 | MYH7 | c.784G= (p.Asp262=) n.890G= | |
| 14 | g.23431430C>G | CA389052063 | MYH7 | c.784G>C (p.Asp262His) n.890G>C | |
| 14 | g.23431430C>T | CA389052062 | MYH7 | c.784G>A (p.Asp262Asn) n.890G>A | ClinVar dbSNP |
| 14 | g.23431431T>A | CA485767226 | MYH7 | c.783A>T (p.Ala261=) n.889A>T | |
| 14 | g.23431431T>C | CA485767227 | MYH7 | c.783A>G (p.Ala261=) n.889A>G | |
| 14 | g.23431431T>G | CA485767228 | MYH7 | c.783A>C (p.Ala261=) n.889A>C | |
| 14 | g.23431432G>A | CA389052064 | MYH7 | c.782C>T (p.Ala261Val) n.888C>T | ClinVar dbSNP |
| 14 | g.23431432G>C | CA389052066 | MYH7 | c.782C>G (p.Ala261Gly) n.888C>G | |
| 14 | g.23431432G= | CA2123451464 | MYH7 | c.782C= (p.Ala261=) n.888C= | |
| 14 | g.23431432G>T | CA389052065 | MYH7 | c.782C>A (p.Ala261Glu) n.888C>A | |
| 14 | g.23431433C>A | CA389052067 | MYH7 | c.781G>T (p.Ala261Ser) n.887G>T | |
| 14 | g.23431433C>G | CA389052068 | MYH7 | c.781G>C (p.Ala261Pro) n.887G>C | |
| 14 | g.23431433C>T | CA389052069 | MYH7 | c.781G>A (p.Ala261Thr) n.887G>A | |
| 14 | g.23431434A>C | CA485767230 | MYH7 | c.780T>G (p.Ser260=) n.886T>G | |
| 14 | g.23431434A>G | CA485767231 | MYH7 | c.780T>C (p.Ser260=) n.886T>C | gnomAD v4 |
| 14 | g.23431434A>T | CA485767233 | MYH7 | c.780T>A (p.Ser260=) n.886T>A | |
| 14 | g.23431435G>A | CA389052070 | MYH7 | c.779C>T (p.Ser260Phe) n.885C>T | COSMIC |
| 14 | g.23431435G>C | CA389052071 | MYH7 | c.779C>G (p.Ser260Cys) n.885C>G | |
| 14 | g.23431435G>T | CA389052072 | MYH7 | c.779C>A (p.Ser260Tyr) n.885C>A | COSMIC |
| 14 | g.23431436A= | CA2123451469 | MYH7 | c.778T= (p.Ser260=) n.884T= | |
| 14 | g.23431436A>C | CA389052073 | MYH7 | c.778T>G (p.Ser260Ala) n.884T>G | |
| 14 | g.23431436A>G | CA389052074 | MYH7 | c.778T>C (p.Ser260Pro) n.884T>C | |
| 14 | g.23431436A>T | CA389052075 | MYH7 | c.778T>A (p.Ser260Thr) n.884T>A | ClinVar dbSNP |
| 14 | g.23431437T>A | CA485767235 | MYH7 | c.777A>T (p.Ala259=) n.883A>T | ClinVar dbSNP |
| 14 | g.23431437T>C | CA485767236 | MYH7 | c.777A>G (p.Ala259=) n.883A>G | |
| 14 | g.23431437T>G | CA485767238 | MYH7 | c.777A>C (p.Ala259=) n.883A>C | |
| 14 | g.23431437_23431438insATAGACATATCT | CA2624251096 | MYH7 | c.777_778insGATATGTCTATA (p.Ala259_Ser260insAspMetSerIle) n.883_884insGATATGTCTATA | gnomAD v4 |
| 14 | g.23431438G>A | CA389052076 | MYH7 | c.776C>T (p.Ala259Val) n.882C>T | |
| 14 | g.23431438G>C | CA389052077 | MYH7 | c.776C>G (p.Ala259Gly) n.882C>G | |
| 14 | g.23431438G= | CA2123451477 | MYH7 | c.776C= (p.Ala259=) n.882C= | |
| 14 | g.23431438G>T | CA016814 | MYH7 | c.776C>A (p.Ala259Glu) n.882C>A | ClinVar dbSNP |
| 14 | g.23431439C>A | CA389052078 | MYH7 | c.775G>T (p.Ala259Ser) n.881G>T | COSMIC |
| 14 | g.23431439C>G | CA389052080 | MYH7 | c.775G>C (p.Ala259Pro) n.881G>C | |
| 14 | g.23431439C>T | CA389052079 | MYH7 | c.775G>A (p.Ala259Thr) n.881G>A | |
| 14 | g.23431440del | CA2624251099 | MYH7 | c.775del (p.Ala259HisfsTer5) n.881del | gnomAD v4 |
| 14 | g.23431440C>A | CA389052081 | MYH7 | c.774G>T (p.Leu258Phe) n.880G>T | |
| 14 | g.23431440C= | CA2123451484 | MYH7 | c.774G= (p.Leu258=) n.880G= | |
| 14 | g.23431440C>G | CA389052082 | MYH7 | c.774G>C (p.Leu258Phe) n.880G>C | |
| 14 | g.23431440C>T | CA485767240 | MYH7 | c.774G>A (p.Leu258=) n.880G>A | dbSNP gnomAD v2 |
| 14 | g.23431441A= | CA2123451492 | MYH7 | c.773T= (p.Leu258=) n.879T= | |
| 14 | g.23431441A>C | CA389052083 | MYH7 | c.773T>G (p.Leu258Trp) n.879T>G | |
| 14 | g.23431441A>G | CA10581180 | MYH7 | c.773T>C (p.Leu258Ser) n.879T>C | ClinVar dbSNP |
| 14 | g.23431441A>T | CA389052084 | MYH7 | c.773T>A (p.Leu258Ter) n.879T>A | |
| 14 | g.23431442A>C | CA389052085 | MYH7 | c.772T>G (p.Leu258Val) n.878T>G | |
| 14 | g.23431442A>G | CA485767243 | MYH7 | c.772T>C (p.Leu258=) n.878T>C | ClinVar dbSNP |
| 14 | g.23431442A>T | CA389052086 | MYH7 | c.772T>A (p.Leu258Met) n.878T>A | |
| 14 | g.23431443C>A | CA389052087 | MYH7 | c.771G>T (p.Lys257Asn) n.877G>T | |
| 14 | g.23431443C>G | CA389052088 | MYH7 | c.771G>C (p.Lys257Asn) n.877G>C | |
| 14 | g.23431443C>T | CA485767244 | MYH7 | c.771G>A (p.Lys257=) n.877G>A | gnomAD v4 |
| 14 | g.23431444T>A | CA389052091 | MYH7 | c.770A>T (p.Lys257Met) n.876A>T | |
| 14 | g.23431444T>C | CA389052090 | MYH7 | c.770A>G (p.Lys257Arg) n.876A>G | ClinVar dbSNP |
| 14 | g.23431444T>G | CA389052089 | MYH7 | c.770A>C (p.Lys257Thr) n.876A>C | |
| 14 | g.23431445T>A | CA389052092 | MYH7 | c.769A>T (p.Lys257Ter) n.875A>T | |
| 14 | g.23431445T>C | CA389052093 | MYH7 | c.769A>G (p.Lys257Glu) n.875A>G | |
| 14 | g.23431445T>G | CA389052094 | MYH7 | c.769A>C (p.Lys257Gln) n.875A>C | |
| 14 | g.23431446T>A | CA485767247 | MYH7 | c.768A>T (p.Gly256=) n.874A>T | |
| 14 | g.23431446T>C | CA16606829 | MYH7 | c.768A>G (p.Gly256=) n.874A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431446T>G | CA485767248 | MYH7 | c.768A>C (p.Gly256=) n.874A>C | |
| 14 | g.23431446T= | CA2123451503 | MYH7 | c.768A= (p.Gly256=) n.874A= | |
| 14 | g.23431447C>A | CA389052095 | MYH7 | c.767G>T (p.Gly256Val) n.873G>T | |
| 14 | g.23431447C= | CA2123451520 | MYH7 | c.767G= (p.Gly256=) n.873G= | |
| 14 | g.23431447C>G | CA389052096 | MYH7 | c.767G>C (p.Gly256Ala) n.873G>C | |
| 14 | g.23431447C>T | CA016810 | MYH7 | c.767G>A (p.Gly256Glu) n.873G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23431448C>A | CA389052097 | MYH7 | c.766G>T (p.Gly256Ter) n.872G>T | |
| 14 | g.23431448C>G | CA389052098 | MYH7 | c.766G>C (p.Gly256Arg) n.872G>C | |
| 14 | g.23431448C>T | CA389052099 | MYH7 | c.766G>A (p.Gly256Arg) n.872G>A | |
| 14 | g.23431449T>A | CA485767253 | MYH7 | c.765A>T (p.Thr255=) n.871A>T | ClinVar dbSNP |
| 14 | g.23431449T>C | CA485767255 | MYH7 | c.765A>G (p.Thr255=) n.871A>G | |
| 14 | g.23431449T>G | CA485767254 | MYH7 | c.765A>C (p.Thr255=) n.871A>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431449T= | CA2123451523 | MYH7 | c.765A= (p.Thr255=) n.871A= | |
| 14 | g.23431450G>A | CA389052100 | MYH7 | c.764C>T (p.Thr255Ile) n.870C>T | dbSNP gnomAD v4 |
| 14 | g.23431450G>C | CA389052101 | MYH7 | c.764C>G (p.Thr255Arg) n.870C>G | |
| 14 | g.23431450G= | CA2123451531 | MYH7 | c.764C= (p.Thr255=) n.870C= | |
| 14 | g.23431450G>T | CA389052102 | MYH7 | c.764C>A (p.Thr255Lys) n.870C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431451T>A | CA389052105 | MYH7 | c.763A>T (p.Thr255Ser) n.869A>T | |
| 14 | g.23431451T>C | CA389052103 | MYH7 | c.763A>G (p.Thr255Ala) n.869A>G | |
| 14 | g.23431451T>G | CA389052104 | MYH7 | c.763A>C (p.Thr255Pro) n.869A>C | |
| 14 | g.23431452T>A | CA485767259 | MYH7 | c.762A>T (p.Ala254=) n.868A>T | |
| 14 | g.23431452T>C | CA485767260 | MYH7 | c.762A>G (p.Ala254=) n.868A>G | |
| 14 | g.23431452T>G | CA485767261 | MYH7 | c.762A>C (p.Ala254=) n.868A>C | |
| 14 | g.23431453G>A | CA389052106 | MYH7 | c.761C>T (p.Ala254Val) n.867C>T | |
| 14 | g.23431453G>C | CA389052107 | MYH7 | c.761C>G (p.Ala254Gly) n.867C>G | |
| 14 | g.23431453G= | CA2123451540 | MYH7 | c.761C= (p.Ala254=) n.867C= | |
| 14 | g.23431453G>T | CA10583172 | MYH7 | c.761C>A (p.Ala254Glu) n.867C>A | ClinVar dbSNP |
| 14 | g.23431454C>A | CA389052108 | MYH7 | c.760G>T (p.Ala254Ser) n.866G>T | |
| 14 | g.23431454C= | CA2123451549 | MYH7 | c.760G= (p.Ala254=) n.866G= | |
| 14 | g.23431454C>G | CA389052109 | MYH7 | c.760G>C (p.Ala254Pro) n.866G>C | |
| 14 | g.23431454C>T | CA389052110 | MYH7 | c.760G>A (p.Ala254Thr) n.866G>A | dbSNP |
| 14 | g.23431455C>A | CA485767266 | MYH7 | c.759G>T (p.Gly253=) n.865G>T | |
| 14 | g.23431455C= | CA2123451552 | MYH7 | c.759G= (p.Gly253=) n.865G= | |
| 14 | g.23431455C>G | CA485767267 | MYH7 | c.759G>C (p.Gly253=) n.865G>C | |
| 14 | g.23431455C>T | CA485767269 | MYH7 | c.759G>A (p.Gly253=) n.865G>A | dbSNP gnomAD v4 |
| 14 | g.23431456C>A | CA016808 | MYH7 | c.758G>T (p.Gly253Val) n.864G>T | ClinVar dbSNP |
| 14 | g.23431456C= | CA2123451561 | MYH7 | c.758G= (p.Gly253=) n.864G= | |
| 14 | g.23431456C>G | CA389052111 | MYH7 | c.758G>C (p.Gly253Ala) n.864G>C | |
| 14 | g.23431456C>T | CA389052112 | MYH7 | c.758G>A (p.Gly253Glu) n.864G>A | ClinVar dbSNP |
| 14 | g.23431457C>A | CA389052113 | MYH7 | c.757G>T (p.Gly253Trp) n.863G>T | |
| 14 | g.23431457C>G | CA389052114 | MYH7 | c.757G>C (p.Gly253Arg) n.863G>C | ClinVar dbSNP |
| 14 | g.23431457C>T | CA389052115 | MYH7 | c.757G>A (p.Gly253Arg) n.863G>A | |
| 14 | g.23431458A>C | CA389052117 | MYH7 | c.756T>G (p.Phe252Leu) n.862T>G | |
| 14 | g.23431458A>G | CA485767275 | MYH7 | c.756T>C (p.Phe252=) n.862T>C | |
| 14 | g.23431458A>T | CA389052116 | MYH7 | c.756T>A (p.Phe252Leu) n.862T>A | |
| 14 | g.23431459A= | CA2123451585 | MYH7 | c.755T= (p.Phe252=) n.861T= | |
| 14 | g.23431459A>C | CA277662 | MYH7 | c.755T>G (p.Phe252Cys) n.861T>G | ClinVar dbSNP |
| 14 | g.23431459A>G | CA016801 | MYH7 | c.755T>C (p.Phe252Ser) n.861T>C | ClinVar dbSNP |
| 14 | g.23431459A>T | CA389052118 | MYH7 | c.755T>A (p.Phe252Tyr) n.861T>A | |
| 14 | g.23431460A>C | CA389052119 | MYH7 | c.754T>G (p.Phe252Val) n.860T>G | |
| 14 | g.23431460A>G | CA389052120 | MYH7 | c.754T>C (p.Phe252Leu) n.860T>C | ClinVar |
| 14 | g.23431460A>T | CA389052121 | MYH7 | c.754T>A (p.Phe252Ile) n.860T>A | |
| 14 | g.23431461A>C | CA389052122 | MYH7 | c.753T>G (p.His251Gln) n.859T>G | |
| 14 | g.23431461A>G | CA485767280 | MYH7 | c.753T>C (p.His251=) n.859T>C | ClinVar |
| 14 | g.23431461A>T | CA389052123 | MYH7 | c.753T>A (p.His251Gln) n.859T>A | |
| 14 | g.23431462T>A | CA389052124 | MYH7 | c.752A>T (p.His251Leu) n.858A>T | |
| 14 | g.23431462T>C | CA389052126 | MYH7 | c.752A>G (p.His251Arg) n.858A>G | |
| 14 | g.23431462T>G | CA389052125 | MYH7 | c.752A>C (p.His251Pro) n.858A>C | |
| 14 | g.23431463G>A | CA049044 | MYH7 | c.751C>T (p.His251Tyr) n.857C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431463G>C | CA389052127 | MYH7 | c.751C>G (p.His251Asp) n.857C>G | |
| 14 | g.23431463G= | CA2123451596 | MYH7 | c.751C= (p.His251=) n.857C= | |
| 14 | g.23431463G>T | CA389052128 | MYH7 | c.751C>A (p.His251Asn) n.857C>A | COSMIC |
| 14 | g.23431464A>C | CA389052129 | MYH7 | c.750T>G (p.Ile250Met) n.856T>G | |
| 14 | g.23431464A>G | CA485767282 | MYH7 | c.750T>C (p.Ile250=) n.856T>C | |
| 14 | g.23431464A>T | CA485767283 | MYH7 | c.750T>A (p.Ile250=) n.856T>A | |
| 14 | g.23431465A>C | CA389052130 | MYH7 | c.749T>G (p.Ile250Ser) n.855T>G | |
| 14 | g.23431465A>G | CA389052132 | MYH7 | c.749T>C (p.Ile250Thr) n.855T>C | |
| 14 | g.23431465A>T | CA389052131 | MYH7 | c.749T>A (p.Ile250Asn) n.855T>A | |
| 14 | g.23431466T>A | CA016795 | MYH7 | c.748A>T (p.Ile250Phe) n.854A>T | ClinVar dbSNP |
| 14 | g.23431466T>C | CA016788 | MYH7 | c.748A>G (p.Ile250Val) n.854A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431466T>G | CA389052133 | MYH7 | c.748A>C (p.Ile250Leu) n.854A>C | |
| 14 | g.23431466T= | CA2123451608 | MYH7 | c.748A= (p.Ile250=) n.854A= | |
| 14 | g.23431467T>A | CA485767286 | MYH7 | c.747A>T (p.Arg249=) n.853A>T | |
| 14 | g.23431467T>C | CA485767287 | MYH7 | c.747A>G (p.Arg249=) n.853A>G | |
| 14 | g.23431467T>G | CA485767288 | MYH7 | c.747A>C (p.Arg249=) n.853A>C | |
| 14 | g.23431468C>A | CA389052134 | MYH7 | c.746G>T (p.Arg249Leu) n.852G>T | ClinVar dbSNP |
| 14 | g.23431468C= | CA2123451619 | MYH7 | c.746G= (p.Arg249=) n.852G= | |
| 14 | g.23431468C>G | CA389052135 | MYH7 | c.746G>C (p.Arg249Pro) n.852G>C | ClinVar |
| 14 | g.23431468C>T | CA016781 | MYH7 | c.746G>A (p.Arg249Gln) n.852G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23431469G>A | CA16614500 | MYH7 | c.745C>T (p.Arg249Ter) n.851C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23431469G>C | CA016774 | MYH7 | c.745C>G (p.Arg249Gly) n.851C>G | ClinVar dbSNP |
| 14 | g.23431469G= | CA2123451633 | MYH7 | c.745C= (p.Arg249=) n.851C= | |
| 14 | g.23431469G>T | CA485767290 | MYH7 | c.745C>A (p.Arg249=) n.851C>A | ClinVar dbSNP |
| 14 | g.23431470A>C | CA389052136 | MYH7 | c.744T>G (p.Ile248Met) n.850T>G | ClinVar dbSNP |
| 14 | g.23431470A>G | CA485767292 | MYH7 | c.744T>C (p.Ile248=) n.850T>C | |
| 14 | g.23431470A>T | CA485767293 | MYH7 | c.744T>A (p.Ile248=) n.850T>A | |
| 14 | g.23431471A= | CA2123451645 | MYH7 | c.743T= (p.Ile248=) n.849T= | |
| 14 | g.23431471A>C | CA389052137 | MYH7 | c.743T>G (p.Ile248Ser) n.849T>G | |
| 14 | g.23431471A>G | CA016766 | MYH7 | c.743T>C (p.Ile248Thr) n.849T>C | ClinVar dbSNP |
| 14 | g.23431471A>T | CA389052138 | MYH7 | c.743T>A (p.Ile248Asn) n.849T>A | |
| 14 | g.23431472T>A | CA016758 | MYH7 | c.742A>T (p.Ile248Phe) n.848A>T | ClinVar dbSNP |
| 14 | g.23431472T>C | CA389052140 | MYH7 | c.742A>G (p.Ile248Val) n.848A>G | ClinVar |
| 14 | g.23431472T>G | CA389052139 | MYH7 | c.742A>C (p.Ile248Leu) n.848A>C | |
| 14 | g.23431472T= | CA2123451653 | MYH7 | c.742A= (p.Ile248=) n.848A= | |
| 14 | g.23431473G>A | CA485767297 | MYH7 | c.741C>T (p.Phe247=) n.847C>T | |
| 14 | g.23431473G>C | CA389052141 | MYH7 | c.741C>G (p.Phe247Leu) n.847C>G | |
| 14 | g.23431473G= | CA2123451668 | MYH7 | c.741C= (p.Phe247=) n.847C= | |
| 14 | g.23431473G>T | CA389052142 | MYH7 | c.741C>A (p.Phe247Leu) n.847C>A | ClinVar dbSNP COSMIC |
| 14 | g.23431474A= | CA2123451680 | MYH7 | c.740T= (p.Phe247=) n.846T= | |
| 14 | g.23431474A>C | CA016752 | MYH7 | c.740T>G (p.Phe247Cys) n.846T>G | ClinVar dbSNP |
| 14 | g.23431474A>G | CA389052143 | MYH7 | c.740T>C (p.Phe247Ser) n.846T>C | ClinVar |
| 14 | g.23431474A>T | CA389052144 | MYH7 | c.740T>A (p.Phe247Tyr) n.846T>A | |
| 14 | g.23431475A= | CA2123451692 | MYH7 | c.739T= (p.Phe247=) n.845T= | |
| 14 | g.23431475A>C | CA389052145 | MYH7 | c.739T>G (p.Phe247Val) n.845T>G | |
| 14 | g.23431475A>G | CA016744 | MYH7 | c.739T>C (p.Phe247Leu) n.845T>C | ClinVar dbSNP |
| 14 | g.23431475A>T | CA389052146 | MYH7 | c.739T>A (p.Phe247Ile) n.845T>A | |
| 14 | g.23431476T>A | CA389052147 | MYH7 | c.738A>T (p.Lys246Asn) n.844A>T | |
| 14 | g.23431476T>C | CA485767298 | MYH7 | c.738A>G (p.Lys246=) n.844A>G | |
| 14 | g.23431476T>G | CA389052148 | MYH7 | c.738A>C (p.Lys246Asn) n.844A>C | |
| 14 | g.23431477T>A | CA389052149 | MYH7 | c.737A>T (p.Lys246Ile) n.843A>T | dbSNP |
| 14 | g.23431477T>C | CA016736 | MYH7 | c.737A>G (p.Lys246Arg) n.843A>G | ClinVar dbSNP gnomAD v2 |
| 14 | g.23431477T>G | CA389052150 | MYH7 | c.737A>C (p.Lys246Thr) n.843A>C | |
| 14 | g.23431477T= | CA2123451700 | MYH7 | c.737A= (p.Lys246=) n.843A= | |
| 14 | g.23431478T>A | CA389052153 | MYH7 | c.736A>T (p.Lys246Ter) n.842A>T | |
| 14 | g.23431478T>C | CA389052151 | MYH7 | c.736A>G (p.Lys246Glu) n.842A>G | |
| 14 | g.23431478T>G | CA389052152 | MYH7 | c.736A>C (p.Lys246Gln) n.842A>C | dbSNP |
| 14 | g.23431478T= | CA2123451704 | MYH7 | c.736A= (p.Lys246=) n.842A= |