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.23431480_23431583delinsCCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCA | CA2123451726 | MYH7 | c.732+2_734delinsTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGGG n.838+2_840delinsTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGGG | |
| 14 | g.23431482_23431584del | CA257825863 | MYH7 | c.732+2_733del n.838+2_839del | dbSNP |
| 14 | g.23431481_23431585delinsCCTGGAGAGATGGAAGAGAGTGGTGATGAGTTGGGGGAAGGCTCATATCTGAGACCATTCCTCCACCAGTCCAAGTCCCAAGGCCAAGGTCAGGGACCACTCACG | CA2123451743 | MYH7 | c.732_733delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG n.838_839delinsCGTGAGTGGTCCCTGACCTTGGCCTTGGGACTTGGACTGGTGGAGGAATGGTCTCAGATATGAGCCTTCCCCCAACTCATCACCACTCTCTTCCATCTCTCCAGG | |
| 14 | g.23431482_23431585delinsA | CA257825866 | MYH7 | c.732_733-1delinsT n.838_839-1delinsT | dbSNP |
| 14 | g.23431557C>A | CA2562179035 | MYH7 | c.732+28G>T (n.732+28G>T) n.838+28G>T | |
| 14 | g.23431557C>T | CA2624251267 | MYH7 | c.732+28G>A (n.732+28G>A) n.838+28G>A | gnomAD v4 |
| 14 | g.23431559del | CA2624251265 | MYH7 | c.732+28del (n.732+28del) n.838+28del | gnomAD v4 |
| 14 | g.23431558C= | CA2123451920 | MYH7 | c.732+27G= (n.732+27G=) n.838+27G= | |
| 14 | g.23431558C>T | CA048849 | MYH7 | c.732+27G>A (n.732+27G>A) n.838+27G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431561A>C | CA2624251269 | MYH7 | c.732+24T>G (n.732+24T>G) n.838+24T>G | gnomAD v4 |
| 14 | g.23431562G>A | CA2624251272 | MYH7 | c.732+23C>T (n.732+23C>T) n.838+23C>T | gnomAD v4 |
| 14 | g.23431563G>A | CA2575486806 | MYH7 | c.732+22C>T (n.732+22C>T) n.838+22C>T | |
| 14 | g.23431563G= | CA2123451923 | MYH7 | c.732+22C= (n.732+22C=) n.838+22C= | |
| 14 | g.23431563G>T | CA613317779 | MYH7 | c.732+22C>A (n.732+22C>A) n.838+22C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431565C= | CA2123451926 | MYH7 | c.732+20G= (n.732+20G=) n.838+20G= | |
| 14 | g.23431565C>T | CA048841 | MYH7 | c.732+20G>A (n.732+20G>A) n.838+20G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431567A= | CA2123451927 | MYH7 | c.732+18T= (n.732+18T=) n.838+18T= | |
| 14 | g.23431567A>G | CA257825932 | MYH7 | c.732+18T>C (n.732+18T>C) n.838+18T>C | dbSNP |
| 14 | g.23431568G>A | CA485767309 | MYH7 | c.732+17C>T (n.732+17C>T) n.838+17C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431568G= | CA2123451931 | MYH7 | c.732+17C= (n.732+17C=) n.838+17C= | |
| 14 | g.23431568G>T | CA048829 | MYH7 | c.732+17C>A (n.732+17C>A) n.838+17C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431569G>A | CA961070371 | MYH7 | c.732+16C>T (n.732+16C>T) n.838+16C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431569G= | CA2123451934 | MYH7 | c.732+16C= (n.732+16C=) n.838+16C= | |
| 14 | g.23431571C>A | CA2728912925 | MYH7 | c.732+14G>T (n.732+14G>T) n.838+14G>T | dbSNP |
| 14 | g.23431571C= | CA2123451937 | MYH7 | c.732+14G= (n.732+14G=) n.838+14G= | |
| 14 | g.23431571C>G | CA048822 | MYH7 | c.732+14G>C (n.732+14G>C) n.838+14G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431574G>C | CA2624251287 | MYH7 | c.732+11C>G (n.732+11C>G) n.838+11C>G | gnomAD v4 |
| 14 | g.23431575G>A | CA645596431 | MYH7 | c.732+10C>T (n.732+10C>T) n.838+10C>T | COSMIC |
| 14 | g.23431576A= | CA2123451939 | MYH7 | c.732+9T= (n.732+9T=) n.838+9T= | |
| 14 | g.23431576A>G | CA2624251290 | MYH7 | c.732+9T>C (n.732+9T>C) n.838+9T>C | gnomAD v4 |
| 14 | g.23431576A>T | CA048895 | MYH7 | c.732+9T>A (n.732+9T>A) n.838+9T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431577C>G | CA2571126844 | MYH7 | c.732+8G>C (n.732+8G>C) n.838+8G>C | |
| 14 | g.23431578C>T | CA2695219144 | MYH7 | c.732+7G>A (n.732+7G>A) n.838+7G>A | |
| 14 | g.23431580C= | CA2123451945 | MYH7 | c.732+5G= (n.732+5G=) n.838+5G= | |
| 14 | g.23431580C>G | CA916081718 | MYH7 | c.732+5G>C (n.732+5G>C) n.838+5G>C | ClinVar dbSNP |
| 14 | g.23431582C>A | CA2695219146 | MYH7 | c.732+3G>T (n.732+3G>T) n.838+3G>T | |
| 14 | g.23431582C>G | CA2695219145 | MYH7 | c.732+3G>C (n.732+3G>C) n.838+3G>C | |
| 14 | g.23431583A= | CA2123451958 | MYH7 | c.732+2T= (n.732+2T=) n.838+2T= | |
| 14 | g.23431583A>C | CA389052164 | MYH7 | c.732+2T>G (n.732+2T>G) n.838+2T>G | ClinVar dbSNP |
| 14 | g.23431583A>G | CA389052165 | MYH7 | c.732+2T>C (n.732+2T>C) n.838+2T>C | |
| 14 | g.23431583A>T | CA389052166 | MYH7 | c.732+2T>A (n.732+2T>A) n.838+2T>A | |
| 14 | g.23431583_23431584delinsAC | CA2123451952 | MYH7 | c.732+1_732+2delinsGT (n.732+1_732+2delinsGT) n.838+1_838+2delinsGT | |
| 14 | g.23431584del | CA132134 | MYH7 | c.732+1del (n.732+1del) n.838+1del | ClinVar dbSNP |
| 14 | g.23431584C>A | CA389052167 | MYH7 | c.732+1G>T (n.732+1G>T) n.838+1G>T | ClinVar dbSNP |
| 14 | g.23431584C= | CA2123451970 | MYH7 | c.732+1G= (n.732+1G=) n.838+1G= | |
| 14 | g.23431584C>G | CA389052168 | MYH7 | c.732+1G>C (n.732+1G>C) n.838+1G>C | ClinVar dbSNP |
| 14 | g.23431584C>T | CA016715 | MYH7 | c.732+1G>A (n.732+1G>A) n.838+1G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23431585G>A | CA016723 | MYH7 | c.732C>T (p.Phe244=) n.838C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431585G>C | CA389052169 | MYH7 | c.732C>G (p.Phe244Leu) n.838C>G | dbSNP |
| 14 | g.23431585G= | CA2123451985 | MYH7 | c.732C= (p.Phe244=) n.838C= | |
| 14 | g.23431585G>T | CA389052170 | MYH7 | c.732C>A (p.Phe244Leu) n.838C>A | gnomAD v4 |
| 14 | g.23431585_23431587delinsAAG | CA2695219147 | MYH7 | c.730_732delinsCTT (p.Phe244Leu) n.836_838delinsCTT | |
| 14 | g.23431586A>C | CA389052171 | MYH7 | c.731T>G (p.Phe244Cys) n.837T>G | |
| 14 | g.23431586A>G | CA389052173 | MYH7 | c.731T>C (p.Phe244Ser) n.837T>C | |
| 14 | g.23431586A>T | CA389052172 | MYH7 | c.731T>A (p.Phe244Tyr) n.837T>A | |
| 14 | g.23431587A= | CA2123451993 | MYH7 | c.730T= (p.Phe244=) n.836T= | |
| 14 | g.23431587A>C | CA389052174 | MYH7 | c.730T>G (p.Phe244Val) n.836T>G | |
| 14 | g.23431587A>G | CA016711 | MYH7 | c.730T>C (p.Phe244Leu) n.836T>C | ClinVar dbSNP |
| 14 | g.23431587A>T | CA389052175 | MYH7 | c.730T>A (p.Phe244Ile) n.836T>A | |
| 14 | g.23431588G>A | CA485767314 | MYH7 | c.729C>T (p.Arg243=) n.835C>T | |
| 14 | g.23431588G>C | CA485767315 | MYH7 | c.729C>G (p.Arg243=) n.835C>G | |
| 14 | g.23431588G>T | CA485767316 | MYH7 | c.729C>A (p.Arg243=) n.835C>A | |
| 14 | g.23431589C>A | CA389052176 | MYH7 | c.728G>T (p.Arg243Leu) n.834G>T | ClinVar dbSNP |
| 14 | g.23431589C= | CA2123452001 | MYH7 | c.728G= (p.Arg243=) n.834G= | |
| 14 | g.23431589C>G | CA389052177 | MYH7 | c.728G>C (p.Arg243Pro) n.834G>C | |
| 14 | g.23431589C>T | CA016701 | MYH7 | c.728G>A (p.Arg243His) n.834G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23431590G>A | CA016694 | MYH7 | c.727C>T (p.Arg243Cys) n.833C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431590G>C | CA389052178 | MYH7 | c.727C>G (p.Arg243Gly) n.833C>G | |
| 14 | g.23431590G= | CA2123452020 | MYH7 | c.727C= (p.Arg243=) n.833C= | |
| 14 | g.23431590G>T | CA389052179 | MYH7 | c.727C>A (p.Arg243Ser) n.833C>A | |
| 14 | g.23431591G>A | CA485767317 | MYH7 | c.726C>T (p.Ser242=) n.832C>T | dbSNP |
| 14 | g.23431591G>C | CA485767318 | MYH7 | c.726C>G (p.Ser242=) n.832C>G | |
| 14 | g.23431591G= | CA2123452025 | MYH7 | c.726C= (p.Ser242=) n.832C= | |
| 14 | g.23431591G>T | CA485767319 | MYH7 | c.726C>A (p.Ser242=) n.832C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431592G>A | CA389052180 | MYH7 | c.725C>T (p.Ser242Phe) n.831C>T | |
| 14 | g.23431592G>C | CA016686 | MYH7 | c.725C>G (p.Ser242Cys) n.831C>G | ClinVar dbSNP |
| 14 | g.23431592G= | CA2123452033 | MYH7 | c.725C= (p.Ser242=) n.831C= | |
| 14 | g.23431592G>T | CA389052181 | MYH7 | c.725C>A (p.Ser242Tyr) n.831C>A | |
| 14 | g.23431593A= | CA2123452039 | MYH7 | c.724T= (p.Ser242=) n.830T= | |
| 14 | g.23431593A>C | CA389052183 | MYH7 | c.724T>G (p.Ser242Ala) n.830T>G | |
| 14 | g.23431593A>G | CA257825944 | MYH7 | c.724T>C (p.Ser242Pro) n.830T>C | dbSNP |
| 14 | g.23431593A>T | CA389052182 | MYH7 | c.724T>A (p.Ser242Thr) n.830T>A | |
| 14 | g.23431594G>A | CA485767322 | MYH7 | c.723C>T (p.Ser241=) n.829C>T | dbSNP |
| 14 | g.23431594G>C | CA485767320 | MYH7 | c.723C>G (p.Ser241=) n.829C>G | |
| 14 | g.23431594G>T | CA485767321 | MYH7 | c.723C>A (p.Ser241=) n.829C>A | |
| 14 | g.23431595G>A | CA389052184 | MYH7 | c.722C>T (p.Ser241Phe) n.828C>T | ClinVar dbSNP |
| 14 | g.23431595G>C | CA389052185 | MYH7 | c.722C>G (p.Ser241Cys) n.828C>G | |
| 14 | g.23431595G>T | CA389052186 | MYH7 | c.722C>A (p.Ser241Tyr) n.828C>A | ClinVar dbSNP |
| 14 | g.23431596A= | CA2123452043 | MYH7 | c.721T= (p.Ser241=) n.827T= | |
| 14 | g.23431596A>C | CA389052187 | MYH7 | c.721T>G (p.Ser241Ala) n.827T>G | |
| 14 | g.23431596A>G | CA389052188 | MYH7 | c.721T>C (p.Ser241Pro) n.827T>C | ClinVar dbSNP |
| 14 | g.23431596A>T | CA389052189 | MYH7 | c.721T>A (p.Ser241Thr) n.827T>A | gnomAD v4 |
| 14 | g.23431597G>A | CA485767323 | MYH7 | c.720C>T (p.Asn240=) n.826C>T | gnomAD v4 |
| 14 | g.23431597G>C | CA389052190 | MYH7 | c.720C>G (p.Asn240Lys) n.826C>G | |
| 14 | g.23431597G>T | CA389052191 | MYH7 | c.720C>A (p.Asn240Lys) n.826C>A | |
| 14 | g.23431598T>A | CA389052192 | MYH7 | c.719A>T (p.Asn240Ile) n.825A>T | |
| 14 | g.23431598T>C | CA389052193 | MYH7 | c.719A>G (p.Asn240Ser) n.825A>G | |
| 14 | g.23431598T>G | CA389052194 | MYH7 | c.719A>C (p.Asn240Thr) n.825A>C | |
| 14 | g.23431599T>A | CA389052197 | MYH7 | c.718A>T (p.Asn240Tyr) n.824A>T | |
| 14 | g.23431599T>C | CA389052196 | MYH7 | c.718A>G (p.Asn240Asp) n.824A>G | |
| 14 | g.23431599T>G | CA389052195 | MYH7 | c.718A>C (p.Asn240His) n.824A>C | |
| 14 | g.23431600G>A | CA485767324 | MYH7 | c.717C>T (p.Asp239=) n.823C>T | gnomAD v4 |
| 14 | g.23431600G>C | CA10581181 | MYH7 | c.717C>G (p.Asp239Glu) n.823C>G | ClinVar dbSNP |
| 14 | g.23431600G= | CA2123452050 | MYH7 | c.717C= (p.Asp239=) n.823C= | |
| 14 | g.23431600G>T | CA389052198 | MYH7 | c.717C>A (p.Asp239Glu) n.823C>A | gnomAD v4 |
| 14 | g.23431602_23431604del | CA913184869 | MYH7 | c.715_717del (p.Asp239del) n.821_823del | ClinVar |
| 14 | g.23431601T>A | CA389052199 | MYH7 | c.716A>T (p.Asp239Val) n.822A>T | |
| 14 | g.23431601T>C | CA389052200 | MYH7 | c.716A>G (p.Asp239Gly) n.822A>G | |
| 14 | g.23431601T>G | CA389052201 | MYH7 | c.716A>C (p.Asp239Ala) n.822A>C | ClinVar dbSNP |
| 14 | g.23431602C>A | CA389052203 | MYH7 | c.715G>T (p.Asp239Tyr) n.821G>T | |
| 14 | g.23431602C= | CA2123452058 | MYH7 | c.715G= (p.Asp239=) n.821G= | |
| 14 | g.23431602C>G | CA389052202 | MYH7 | c.715G>C (p.Asp239His) n.821G>C | |
| 14 | g.23431602C>T | CA016679 | MYH7 | c.715G>A (p.Asp239Asn) n.821G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23431603G>A | CA016674 | MYH7 | c.714C>T (p.Asn238=) n.820C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23431603G>C | CA389052204 | MYH7 | c.714C>G (p.Asn238Lys) n.820C>G | ClinVar dbSNP COSMIC |
| 14 | g.23431603G= | CA2123452063 | MYH7 | c.714C= (p.Asn238=) n.820C= | |
| 14 | g.23431603G>T | CA389052205 | MYH7 | c.714C>A (p.Asn238Lys) n.820C>A | |
| 14 | g.23431604T>A | CA389052206 | MYH7 | c.713A>T (p.Asn238Ile) n.819A>T | |
| 14 | g.23431604T>C | CA389052207 | MYH7 | c.713A>G (p.Asn238Ser) n.819A>G | |
| 14 | g.23431604T>G | CA389052208 | MYH7 | c.713A>C (p.Asn238Thr) n.819A>C | |
| 14 | g.23431605T>A | CA389052211 | MYH7 | c.712A>T (p.Asn238Tyr) n.818A>T | |
| 14 | g.23431605T>C | CA389052209 | MYH7 | c.712A>G (p.Asn238Asp) n.818A>G | |
| 14 | g.23431605T>G | CA389052210 | MYH7 | c.712A>C (p.Asn238His) n.818A>C | |
| 14 | g.23431606C>A | CA485767325 | MYH7 | c.711G>T (p.Arg237=) n.817G>T | |
| 14 | g.23431606C>G | CA485767326 | MYH7 | c.711G>C (p.Arg237=) n.817G>C | |
| 14 | g.23431606C>T | CA485767327 | MYH7 | c.711G>A (p.Arg237=) n.817G>A | COSMIC |
| 14 | g.23431607C>A | CA389052212 | MYH7 | c.710G>T (p.Arg237Leu) n.816G>T | |
| 14 | g.23431607C= | CA2123452068 | MYH7 | c.710G= (p.Arg237=) n.816G= | |
| 14 | g.23431607C>G | CA389052213 | MYH7 | c.710G>C (p.Arg237Pro) n.816G>C | |
| 14 | g.23431607C>T | CA016667 | MYH7 | c.710G>A (p.Arg237Gln) n.816G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23431608G>A | CA016662 | MYH7 | c.709C>T (p.Arg237Trp) n.815C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431608G>C | CA389052214 | MYH7 | c.709C>G (p.Arg237Gly) n.815C>G | |
| 14 | g.23431608G= | CA2123452073 | MYH7 | c.709C= (p.Arg237=) n.815C= | |
| 14 | g.23431608G>T | CA485767328 | MYH7 | c.709C>A (p.Arg237=) n.815C>A | |
| 14 | g.23431609G>A | CA485767329 | MYH7 | c.708C>T (p.Val236=) n.814C>T | |
| 14 | g.23431609G>C | CA485767330 | MYH7 | c.708C>G (p.Val236=) n.814C>G | |
| 14 | g.23431609G>T | CA485767331 | MYH7 | c.708C>A (p.Val236=) n.814C>A | |
| 14 | g.23431610A= | CA2123452085 | MYH7 | c.707T= (p.Val236=) n.813T= | |
| 14 | g.23431610A>C | CA389052215 | MYH7 | c.707T>G (p.Val236Gly) n.813T>G | |
| 14 | g.23431610A>G | CA016653 | MYH7 | c.707T>C (p.Val236Ala) n.813T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431610A>T | CA389052216 | MYH7 | c.707T>A (p.Val236Asp) n.813T>A | |
| 14 | g.23431611C>A | CA389052217 | MYH7 | c.706G>T (p.Val236Phe) n.812G>T | ClinVar dbSNP |
| 14 | g.23431611C= | CA2123452092 | MYH7 | c.706G= (p.Val236=) n.812G= | |
| 14 | g.23431611C>G | CA389052218 | MYH7 | c.706G>C (p.Val236Leu) n.812G>C | |
| 14 | g.23431611C>T | CA016646 | MYH7 | c.706G>A (p.Val236Ile) n.812G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23431612G>A | CA048771 | MYH7 | c.705C>T (p.Thr235=) n.811C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23431612G>C | CA485767332 | MYH7 | c.705C>G (p.Thr235=) n.811C>G | ClinVar |
| 14 | g.23431612G= | CA2123452104 | MYH7 | c.705C= (p.Thr235=) n.811C= | |
| 14 | g.23431612G>T | CA048763 | MYH7 | c.705C>A (p.Thr235=) n.811C>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23431613G>A | CA389052219 | MYH7 | c.704C>T (p.Thr235Ile) n.810C>T | |
| 14 | g.23431613G>C | CA389052221 | MYH7 | c.704C>G (p.Thr235Ser) n.810C>G | |
| 14 | g.23431613G= | CA2123452108 | MYH7 | c.704C= (p.Thr235=) n.810C= | |
| 14 | g.23431613G>T | CA389052220 | MYH7 | c.704C>A (p.Thr235Asn) n.810C>A | ClinVar dbSNP |
| 14 | g.23431614T>A | CA389052222 | MYH7 | c.703A>T (p.Thr235Ser) n.809A>T | |
| 14 | g.23431614T>C | CA10576961 | MYH7 | c.703A>G (p.Thr235Ala) n.809A>G | ClinVar dbSNP |
| 14 | g.23431614T>G | CA389052223 | MYH7 | c.703A>C (p.Thr235Pro) n.809A>C | |
| 14 | g.23431614T= | CA2123452113 | MYH7 | c.703A= (p.Thr235=) n.809A= | |
| 14 | g.23431615C>A | CA389052224 | MYH7 | c.702G>T (p.Lys234Asn) n.808G>T | ClinVar dbSNP |
| 14 | g.23431615C= | CA2123452120 | MYH7 | c.702G= (p.Lys234=) n.808G= | |
| 14 | g.23431615C>G | CA389052225 | MYH7 | c.702G>C (p.Lys234Asn) n.808G>C | |
| 14 | g.23431615C>T | CA048755 | MYH7 | c.702G>A (p.Lys234=) n.808G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431616T>A | CA389052226 | MYH7 | c.701A>T (p.Lys234Met) n.807A>T | |
| 14 | g.23431616T>C | CA389052227 | MYH7 | c.701A>G (p.Lys234Arg) n.807A>G | |
| 14 | g.23431616T>G | CA389052228 | MYH7 | c.701A>C (p.Lys234Thr) n.807A>C | |
| 14 | g.23431617T>A | CA389052229 | MYH7 | c.700A>T (p.Lys234Ter) n.806A>T | |
| 14 | g.23431617T>C | CA389052230 | MYH7 | c.700A>G (p.Lys234Glu) n.806A>G | ClinVar dbSNP |
| 14 | g.23431617T>G | CA389052231 | MYH7 | c.700A>C (p.Lys234Gln) n.806A>C | |
| 14 | g.23431617T= | CA2123452126 | MYH7 | c.700A= (p.Lys234=) n.806A= | |
| 14 | g.23431618G>A | CA485767333 | MYH7 | c.699C>T (p.Ala233=) n.805C>T | |
| 14 | g.23431618G>C | CA485767334 | MYH7 | c.699C>G (p.Ala233=) n.805C>G | |
| 14 | g.23431618G>T | CA485767335 | MYH7 | c.699C>A (p.Ala233=) n.805C>A | |
| 14 | g.23431619G>A | CA016639 | MYH7 | c.698C>T (p.Ala233Val) n.804C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431619G>C | CA389052232 | MYH7 | c.698C>G (p.Ala233Gly) n.804C>G | |
| 14 | g.23431619G= | CA2123452130 | MYH7 | c.698C= (p.Ala233=) n.804C= | |
| 14 | g.23431619G>T | CA389052233 | MYH7 | c.698C>A (p.Ala233Asp) n.804C>A | |
| 14 | g.23431620C>A | CA016631 | MYH7 | c.697G>T (p.Ala233Ser) n.803G>T | ClinVar dbSNP |
| 14 | g.23431620C= | CA2123452141 | MYH7 | c.697G= (p.Ala233=) n.803G= | |
| 14 | g.23431620C>G | CA389052234 | MYH7 | c.697G>C (p.Ala233Pro) n.803G>C | |
| 14 | g.23431620C>T | CA389052235 | MYH7 | c.697G>A (p.Ala233Thr) n.803G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431621A= | CA2123452149 | MYH7 | c.696T= (p.Asn232=) n.802T= | |
| 14 | g.23431621A>C | CA389052236 | MYH7 | c.696T>G (p.Asn232Lys) n.802T>G | |
| 14 | g.23431621A>G | CA485767336 | MYH7 | c.696T>C (p.Asn232=) n.802T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431621A>T | CA389052237 | MYH7 | c.696T>A (p.Asn232Lys) n.802T>A | gnomAD v4 |
| 14 | g.23431622T>A | CA389052238 | MYH7 | c.695A>T (p.Asn232Ile) n.801A>T | |
| 14 | g.23431622T>C | CA389052239 | MYH7 | c.695A>G (p.Asn232Ser) n.801A>G | dbSNP |
| 14 | g.23431622T>G | CA389052240 | MYH7 | c.695A>C (p.Asn232Thr) n.801A>C | |
| 14 | g.23431622T= | CA2123452156 | MYH7 | c.695A= (p.Asn232=) n.801A= | |
| 14 | g.23431623T>A | CA389052241 | MYH7 | c.694A>T (p.Asn232Tyr) n.800A>T | |
| 14 | g.23431623T>C | CA389052242 | MYH7 | c.694A>G (p.Asn232Asp) n.800A>G | gnomAD v4 |
| 14 | g.23431623T>G | CA389052243 | MYH7 | c.694A>C (p.Asn232His) n.800A>C | |
| 14 | g.23431624G>A | CA485767337 | MYH7 | c.693C>T (p.Gly231=) n.799C>T | COSMIC |
| 14 | g.23431624G>C | CA485767338 | MYH7 | c.693C>G (p.Gly231=) n.799C>G | |
| 14 | g.23431624G>T | CA485767339 | MYH7 | c.693C>A (p.Gly231=) n.799C>A | |
| 14 | g.23431624_23431635dup | CA2580087899 | MYH7 | c.682_693dup (p.Gly231_Asn232insGluAlaPheGly) n.788_799dup | ClinVar |
| 14 | g.23431625C>A | CA389052246 | MYH7 | c.692G>T (p.Gly231Val) n.798G>T | ClinVar dbSNP |
| 14 | g.23431625C= | CA2123452162 | MYH7 | c.692G= (p.Gly231=) n.798G= | |
| 14 | g.23431625C>G | CA389052245 | MYH7 | c.692G>C (p.Gly231Ala) n.798G>C | |
| 14 | g.23431625C>T | CA389052244 | MYH7 | c.692G>A (p.Gly231Asp) n.798G>A | |
| 14 | g.23431626C>A | CA389052247 | MYH7 | c.691G>T (p.Gly231Cys) n.797G>T | |
| 14 | g.23431626C>G | CA389052249 | MYH7 | c.691G>C (p.Gly231Arg) n.797G>C | |
| 14 | g.23431626C>T | CA389052248 | MYH7 | c.691G>A (p.Gly231Ser) n.797G>A | |
| 14 | g.23431627A= | CA2123452168 | MYH7 | c.690T= (p.Phe230=) n.796T= | |
| 14 | g.23431627A>C | CA389052250 | MYH7 | c.690T>G (p.Phe230Leu) n.796T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431627A>G | CA485767340 | MYH7 | c.690T>C (p.Phe230=) n.796T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431627A>T | CA389052251 | MYH7 | c.690T>A (p.Phe230Leu) n.796T>A | |
| 14 | g.23431628A= | CA2123452172 | MYH7 | c.689T= (p.Phe230=) n.795T= | |
| 14 | g.23431628A>C | CA389052252 | MYH7 | c.689T>G (p.Phe230Cys) n.795T>G | |
| 14 | g.23431628A>G | CA10587777 | MYH7 | c.689T>C (p.Phe230Ser) n.795T>C | ClinVar dbSNP |
| 14 | g.23431628A>T | CA389052253 | MYH7 | c.689T>A (p.Phe230Tyr) n.795T>A | |
| 14 | g.23431629A>C | CA389052254 | MYH7 | c.688T>G (p.Phe230Val) n.794T>G | |
| 14 | g.23431629A>G | CA389052255 | MYH7 | c.688T>C (p.Phe230Leu) n.794T>C | |
| 14 | g.23431629A>T | CA389052256 | MYH7 | c.688T>A (p.Phe230Ile) n.794T>A | |
| 14 | g.23431630G>A | CA485767341 | MYH7 | c.687C>T (p.Ala229=) n.793C>T | gnomAD v4 |
| 14 | g.23431630G>C | CA485767342 | MYH7 | c.687C>G (p.Ala229=) n.793C>G | gnomAD v4 |
| 14 | g.23431630G>T | CA485767343 | MYH7 | c.687C>A (p.Ala229=) n.793C>A | ClinVar gnomAD v4 |
| 14 | g.23431631G>A | CA10576962 | MYH7 | c.686C>T (p.Ala229Val) n.792C>T | ClinVar dbSNP |
| 14 | g.23431631G>C | CA389052257 | MYH7 | c.686C>G (p.Ala229Gly) n.792C>G | |
| 14 | g.23431631G= | CA2123452180 | MYH7 | c.686C= (p.Ala229=) n.792C= | |
| 14 | g.23431631G>T | CA389052258 | MYH7 | c.686C>A (p.Ala229Asp) n.792C>A | |
| 14 | g.23431632C>A | CA389052259 | MYH7 | c.685G>T (p.Ala229Ser) n.791G>T | |
| 14 | g.23431632C= | CA2123452184 | MYH7 | c.685G= (p.Ala229=) n.791G= | |
| 14 | g.23431632C>G | CA389052260 | MYH7 | c.685G>C (p.Ala229Pro) n.791G>C | |
| 14 | g.23431632C>T | CA389052261 | MYH7 | c.685G>A (p.Ala229Thr) n.791G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 14 | g.23431633C>A | CA389052262 | MYH7 | c.684G>T (p.Glu228Asp) n.790G>T | |
| 14 | g.23431633C= | CA2123452187 | MYH7 | c.684G= (p.Glu228=) n.790G= | |
| 14 | g.23431633C>G | CA389052263 | MYH7 | c.684G>C (p.Glu228Asp) n.790G>C | gnomAD v4 |
| 14 | g.23431633C>T | CA485767344 | MYH7 | c.684G>A (p.Glu228=) n.790G>A | ClinVar dbSNP |
| 14 | g.23431634T>A | CA389052264 | MYH7 | c.683A>T (p.Glu228Val) n.789A>T | |
| 14 | g.23431634T>C | CA389052265 | MYH7 | c.683A>G (p.Glu228Gly) n.789A>G | |
| 14 | g.23431634T>G | CA389052266 | MYH7 | c.683A>C (p.Glu228Ala) n.789A>C | |
| 14 | g.23431635C>A | CA389052267 | MYH7 | c.682G>T (p.Glu228Ter) n.788G>T | |
| 14 | g.23431635C>G | CA389052268 | MYH7 | c.682G>C (p.Glu228Gln) n.788G>C | |
| 14 | g.23431635C>T | CA389052269 | MYH7 | c.682G>A (p.Glu228Lys) n.788G>A | |
| 14 | g.23431636C>A | CA485767345 | MYH7 | c.681G>T (p.Leu227=) n.787G>T | |
| 14 | g.23431636C>G | CA485767346 | MYH7 | c.681G>C (p.Leu227=) n.787G>C | |
| 14 | g.23431636C>T | CA485767347 | MYH7 | c.681G>A (p.Leu227=) n.787G>A | |
| 14 | g.23431637A>C | CA389052270 | MYH7 | c.680T>G (p.Leu227Arg) n.786T>G | |
| 14 | g.23431637A>G | CA389052271 | MYH7 | c.680T>C (p.Leu227Pro) n.786T>C | |
| 14 | g.23431637A>T | CA389052272 | MYH7 | c.680T>A (p.Leu227Gln) n.786T>A | |
| 14 | g.23431638G>A | CA485767348 | MYH7 | c.679C>T (p.Leu227=) n.785C>T | |
| 14 | g.23431638G>C | CA389052273 | MYH7 | c.679C>G (p.Leu227Val) n.785C>G | dbSNP COSMIC |
| 14 | g.23431638G= | CA2123452190 | MYH7 | c.679C= (p.Leu227=) n.785C= | |
| 14 | g.23431638G>T | CA389052274 | MYH7 | c.679C>A (p.Leu227Met) n.785C>A | |
| 14 | g.23431639A= | CA2123452196 | MYH7 | c.678T= (p.Ala226=) n.784T= | |
| 14 | g.23431639A>C | CA485767349 | MYH7 | c.678T>G (p.Ala226=) n.784T>G | |
| 14 | g.23431639A>G | CA485767350 | MYH7 | c.678T>C (p.Ala226=) n.784T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431639A>T | CA485767351 | MYH7 | c.678T>A (p.Ala226=) n.784T>A | |
| 14 | g.23431640G>A | CA10576963 | MYH7 | c.677C>T (p.Ala226Val) n.783C>T | ClinVar dbSNP |
| 14 | g.23431640G>C | CA389052276 | MYH7 | c.677C>G (p.Ala226Gly) n.783C>G | |
| 14 | g.23431640G= | CA2123452200 | MYH7 | c.677C= (p.Ala226=) n.783C= | |
| 14 | g.23431640G>T | CA389052275 | MYH7 | c.677C>A (p.Ala226Asp) n.783C>A | |
| 14 | g.23431641C>A | CA389052277 | MYH7 | c.676G>T (p.Ala226Ser) n.782G>T | |
| 14 | g.23431641C= | CA2123452206 | MYH7 | c.676G= (p.Ala226=) n.782G= | |
| 14 | g.23431641C>G | CA389052278 | MYH7 | c.676G>C (p.Ala226Pro) n.782G>C | |
| 14 | g.23431641C>T | CA16042915 | MYH7 | c.676G>A (p.Ala226Thr) n.782G>A | ClinVar dbSNP |
| 14 | g.23431642A= | CA2123452210 | MYH7 | c.675T= (p.Pro225=) n.781T= | |
| 14 | g.23431642A>C | CA485767353 | MYH7 | c.675T>G (p.Pro225=) n.781T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431642A>G | CA485767354 | MYH7 | c.675T>C (p.Pro225=) n.781T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431642A>T | CA485767352 | MYH7 | c.675T>A (p.Pro225=) n.781T>A | |
| 14 | g.23431643G>A | CA389052279 | MYH7 | c.674C>T (p.Pro225Leu) n.780C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431643G>C | CA389052280 | MYH7 | c.674C>G (p.Pro225Arg) n.780C>G | |
| 14 | g.23431643G= | CA2123452213 | MYH7 | c.674C= (p.Pro225=) n.780C= | |
| 14 | g.23431643G>T | CA389052281 | MYH7 | c.674C>A (p.Pro225His) n.780C>A | |
| 14 | g.23431644G>A | CA389052284 | MYH7 | c.673C>T (p.Pro225Ser) n.779C>T | gnomAD v4 |
| 14 | g.23431644G>C | CA389052282 | MYH7 | c.673C>G (p.Pro225Ala) n.779C>G | |
| 14 | g.23431644G>T | CA389052283 | MYH7 | c.673C>A (p.Pro225Thr) n.779C>A | |
| 14 | g.23431645G>A | CA485767355 | MYH7 | c.672C>T (p.Asn224=) n.778C>T | dbSNP |
| 14 | g.23431645G>C | CA389052285 | MYH7 | c.672C>G (p.Asn224Lys) n.778C>G | |
| 14 | g.23431645G= | CA2123452218 | MYH7 | c.672C= (p.Asn224=) n.778C= | |
| 14 | g.23431645G>T | CA389052286 | MYH7 | c.672C>A (p.Asn224Lys) n.778C>A | |
| 14 | g.23431646T>A | CA389052287 | MYH7 | c.671A>T (p.Asn224Ile) n.777A>T | ClinVar dbSNP |
| 14 | g.23431646T>C | CA389052288 | MYH7 | c.671A>G (p.Asn224Ser) n.777A>G | ClinVar |
| 14 | g.23431646T>G | CA016618 | MYH7 | c.671A>C (p.Asn224Thr) n.777A>C | ClinVar dbSNP |
| 14 | g.23431646T= | CA2123452221 | MYH7 | c.671A= (p.Asn224=) n.777A= | |
| 14 | g.23431647T>A | CA389052289 | MYH7 | c.670A>T (p.Asn224Tyr) n.776A>T | |
| 14 | g.23431647T>C | CA389052291 | MYH7 | c.670A>G (p.Asn224Asp) n.776A>G | |
| 14 | g.23431647T>G | CA389052290 | MYH7 | c.670A>C (p.Asn224His) n.776A>C | |
| 14 | g.23431648G>A | CA485767356 | MYH7 | c.669C>T (p.Ala223=) n.775C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431648G>C | CA485767358 | MYH7 | c.669C>G (p.Ala223=) n.775C>G | dbSNP |
| 14 | g.23431648G= | CA2123452224 | MYH7 | c.669C= (p.Ala223=) n.775C= | |
| 14 | g.23431648G>T | CA485767357 | MYH7 | c.669C>A (p.Ala223=) n.775C>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431649G>A | CA389052292 | MYH7 | c.668C>T (p.Ala223Val) n.774C>T | |
| 14 | g.23431649G>C | CA389052293 | MYH7 | c.668C>G (p.Ala223Gly) n.774C>G | |
| 14 | g.23431649G>T | CA389052294 | MYH7 | c.668C>A (p.Ala223Asp) n.774C>A | |
| 14 | g.23431650C>A | CA389052295 | MYH7 | c.667G>T (p.Ala223Ser) n.773G>T | |
| 14 | g.23431650C= | CA2123452233 | MYH7 | c.667G= (p.Ala223=) n.773G= | |
| 14 | g.23431650C>G | CA389052296 | MYH7 | c.667G>C (p.Ala223Pro) n.773G>C | |
| 14 | g.23431650C>T | CA016610 | MYH7 | c.667G>A (p.Ala223Thr) n.773G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431651C>A | CA389052297 | MYH7 | c.666G>T (p.Gln222His) n.772G>T | |
| 14 | g.23431651C= | CA2123452238 | MYH7 | c.666G= (p.Gln222=) n.772G= | |
| 14 | g.23431651C>G | CA389052298 | MYH7 | c.666G>C (p.Gln222His) n.772G>C | ClinVar dbSNP |
| 14 | g.23431651C>T | CA485767359 | MYH7 | c.666G>A (p.Gln222=) n.772G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431652T>A | CA389052299 | MYH7 | c.665A>T (p.Gln222Leu) n.771A>T | |
| 14 | g.23431652T>C | CA389052300 | MYH7 | c.665A>G (p.Gln222Arg) n.771A>G | |
| 14 | g.23431652T>G | CA389052301 | MYH7 | c.665A>C (p.Gln222Pro) n.771A>C | |
| 14 | g.23431653G>A | CA389052303 | MYH7 | c.664C>T (p.Gln222Ter) n.770C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23431653G>C | CA389052302 | MYH7 | c.664C>G (p.Gln222Glu) n.770C>G | |
| 14 | g.23431653G= | CA2123452243 | MYH7 | c.664C= (p.Gln222=) n.770C= | |
| 14 | g.23431653G>T | CA16614501 | MYH7 | c.664C>A (p.Gln222Lys) n.770C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431654G>A | CA485767360 | MYH7 | c.663C>T (p.Ile221=) n.769C>T | |
| 14 | g.23431654G>C | CA389052304 | MYH7 | c.663C>G (p.Ile221Met) n.769C>G | |
| 14 | g.23431654G>T | CA485767361 | MYH7 | c.663C>A (p.Ile221=) n.769C>A | |
| 14 | g.23431655A= | CA2123452249 | MYH7 | c.662T= (p.Ile221=) n.768T= | |
| 14 | g.23431655A>C | CA389052305 | MYH7 | c.662T>G (p.Ile221Ser) n.768T>G | |
| 14 | g.23431655A>G | CA10583173 | MYH7 | c.662T>C (p.Ile221Thr) n.768T>C | ClinVar dbSNP |
| 14 | g.23431655A>T | CA389052306 | MYH7 | c.662T>A (p.Ile221Asn) n.768T>A | |
| 14 | g.23431656T>A | CA389052307 | MYH7 | c.661A>T (p.Ile221Phe) n.767A>T | |
| 14 | g.23431656T>C | CA389052308 | MYH7 | c.661A>G (p.Ile221Val) n.767A>G | |
| 14 | g.23431656T>G | CA389052309 | MYH7 | c.661A>C (p.Ile221Leu) n.767A>C | |
| 14 | g.23431657G>A | CA485767362 | MYH7 | c.660C>T (p.Ile220=) n.766C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23431657G>C | CA389052310 | MYH7 | c.660C>G (p.Ile220Met) n.766C>G | |
| 14 | g.23431657G= | CA2123452254 | MYH7 | c.660C= (p.Ile220=) n.766C= | |
| 14 | g.23431657G>T | CA485767363 | MYH7 | c.660C>A (p.Ile220=) n.766C>A | dbSNP |