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 |
|---|---|---|---|---|---|
| 1 | g.171652561A= | CA1207023269 | MYOC | c.51T= (p.Ala17=) | |
| 1 | g.171652561A>C | CA421939310 | MYOC | c.51T>G (p.Ala17=) | |
| 1 | g.171652561A>G | CA1244338 | MYOC | c.51T>C (p.Ala17=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652561A>T | CA421939305 | MYOC | c.51T>A (p.Ala17=) | |
| 1 | g.171652562G>A | CA343720009 | MYOC | c.50C>T (p.Ala17Val) | |
| 1 | g.171652562G>C | CA343720011 | MYOC | c.50C>G (p.Ala17Gly) | |
| 1 | g.171652562G>T | CA343720014 | MYOC | c.50C>A (p.Ala17Asp) | |
| 1 | g.171652563C>A | CA343720017 | MYOC | c.49G>T (p.Ala17Ser) | |
| 1 | g.171652563C= | CA1207023270 | MYOC | c.49G= (p.Ala17=) | |
| 1 | g.171652563C>G | CA343720019 | MYOC | c.49G>C (p.Ala17Pro) | |
| 1 | g.171652563C>T | CA32666917 | MYOC | c.49G>A (p.Ala17Thr) | dbSNP gnomAD v4 |
| 1 | g.171652564T>A | CA421939318 | MYOC | c.48A>T (p.Pro16=) | |
| 1 | g.171652564T>C | CA421939317 | MYOC | c.48A>G (p.Pro16=) | |
| 1 | g.171652564T>G | CA421939316 | MYOC | c.48A>C (p.Pro16=) | |
| 1 | g.171652565G>A | CA1244339 | MYOC | c.47C>T (p.Pro16Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652565G>C | CA343720023 | MYOC | c.47C>G (p.Pro16Arg) | |
| 1 | g.171652565G= | CA1148235854 | MYOC | c.47C= (p.Pro16=) | |
| 1 | g.171652565G>T | CA343720025 | MYOC | c.47C>A (p.Pro16Gln) | |
| 1 | g.171652566G>A | CA343720032 | MYOC | c.46C>T (p.Pro16Ser) | gnomAD v4 |
| 1 | g.171652566G>C | CA343720030 | MYOC | c.46C>G (p.Pro16Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652566G= | CA1207023271 | MYOC | c.46C= (p.Pro16=) | |
| 1 | g.171652566G>T | CA343720028 | MYOC | c.46C>A (p.Pro16Thr) | |
| 1 | g.171652567C>A | CA343720035 | MYOC | c.45G>T (p.Met15Ile) | |
| 1 | g.171652567C>G | CA343720037 | MYOC | c.45G>C (p.Met15Ile) | |
| 1 | g.171652567C>T | CA343720038 | MYOC | c.45G>A (p.Met15Ile) | gnomAD v4 |
| 1 | g.171652568A= | CA1144674344 | MYOC | c.44T= (p.Met15=) | |
| 1 | g.171652568A>C | CA343720041 | MYOC | c.44T>G (p.Met15Arg) | gnomAD v4 |
| 1 | g.171652568A>G | CA343720043 | MYOC | c.44T>C (p.Met15Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652568A>T | CA1244340 | MYOC | c.44T>A (p.Met15Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652569T>A | CA343720052 | MYOC | c.43A>T (p.Met15Leu) | |
| 1 | g.171652569T>C | CA343720049 | MYOC | c.43A>G (p.Met15Val) | gnomAD v4 |
| 1 | g.171652569T>G | CA343720047 | MYOC | c.43A>C (p.Met15Leu) | |
| 1 | g.171652570C>A | CA343720055 | MYOC | c.42G>T (p.Glu14Asp) | |
| 1 | g.171652570C= | CA1207023272 | MYOC | c.42G= (p.Glu14=) | |
| 1 | g.171652570C>G | CA343720056 | MYOC | c.42G>C (p.Glu14Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.171652570C>T | CA1244341 | MYOC | c.42G>A (p.Glu14=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652571T>A | CA343720060 | MYOC | c.41A>T (p.Glu14Val) | |
| 1 | g.171652571T>C | CA343720061 | MYOC | c.41A>G (p.Glu14Gly) | gnomAD v4 |
| 1 | g.171652571T>G | CA343720064 | MYOC | c.41A>C (p.Glu14Ala) | |
| 1 | g.171652572C>A | CA343720067 | MYOC | c.40G>T (p.Glu14Ter) | |
| 1 | g.171652572C>G | CA343720071 | MYOC | c.40G>C (p.Glu14Gln) | gnomAD v4 |
| 1 | g.171652572C>T | CA343720069 | MYOC | c.40G>A (p.Glu14Lys) | |
| 1 | g.171652573A= | CA1140345539 | MYOC | c.39T= (p.Pro13=) | |
| 1 | g.171652573A>C | CA1244342 | MYOC | c.39T>G (p.Pro13=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652573A>G | CA1244343 | MYOC | c.39T>C (p.Pro13=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652573A>T | CA421939337 | MYOC | c.39T>A (p.Pro13=) | |
| 1 | g.171652574G>A | CA343720077 | MYOC | c.38C>T (p.Pro13Leu) | ClinVar |
| 1 | g.171652574G>C | CA343720079 | MYOC | c.38C>G (p.Pro13Arg) | |
| 1 | g.171652574G>T | CA343720081 | MYOC | c.38C>A (p.Pro13His) | |
| 1 | g.171652575G>A | CA343720084 | MYOC | c.37C>T (p.Pro13Ser) | |
| 1 | g.171652575G>C | CA343720086 | MYOC | c.37C>G (p.Pro13Ala) | |
| 1 | g.171652575G>T | CA343720088 | MYOC | c.37C>A (p.Pro13Thr) | |
| 1 | g.171652576C>A | CA1244344 | MYOC | c.36G>T (p.Gly12=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652576C= | CA1207023273 | MYOC | c.36G= (p.Gly12=) | |
| 1 | g.171652576C>G | CA421939345 | MYOC | c.36G>C (p.Gly12=) | |
| 1 | g.171652576C>T | CA421939346 | MYOC | c.36G>A (p.Gly12=) | COSMIC |
| 1 | g.171652577C>A | CA343720093 | MYOC | c.35G>T (p.Gly12Val) | |
| 1 | g.171652577C>G | CA343720094 | MYOC | c.35G>C (p.Gly12Ala) | |
| 1 | g.171652577C>T | CA343720096 | MYOC | c.35G>A (p.Gly12Glu) | gnomAD v4 |
| 1 | g.171652578C>A | CA343720099 | MYOC | c.34G>T (p.Gly12Trp) | |
| 1 | g.171652578C= | CA1143372830 | MYOC | c.34G= (p.Gly12=) | |
| 1 | g.171652578C>G | CA1244345 | MYOC | c.34G>C (p.Gly12Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652578C>T | CA343720101 | MYOC | c.34G>A (p.Gly12Arg) | gnomAD v4 |
| 1 | g.171652579A>C | CA343720106 | MYOC | c.33T>G (p.Phe11Leu) | |
| 1 | g.171652579A>G | CA421939353 | MYOC | c.33T>C (p.Phe11=) | |
| 1 | g.171652579A>T | CA343720108 | MYOC | c.33T>A (p.Phe11Leu) | |
| 1 | g.171652580A= | CA1207023274 | MYOC | c.32T= (p.Phe11=) | |
| 1 | g.171652580A>C | CA343720110 | MYOC | c.32T>G (p.Phe11Cys) | |
| 1 | g.171652580A>G | CA343720113 | MYOC | c.32T>C (p.Phe11Ser) | dbSNP gnomAD v4 |
| 1 | g.171652580A>T | CA343720115 | MYOC | c.32T>A (p.Phe11Tyr) | |
| 1 | g.171652581A= | CA1207023275 | MYOC | c.31T= (p.Phe11=) | |
| 1 | g.171652581A>C | CA343720118 | MYOC | c.31T>G (p.Phe11Val) | |
| 1 | g.171652581A>G | CA343720120 | MYOC | c.31T>C (p.Phe11Leu) | ClinVar dbSNP |
| 1 | g.171652581A>T | CA343720123 | MYOC | c.31T>A (p.Phe11Ile) | |
| 1 | g.171652582G>A | CA421939357 | MYOC | c.30C>T (p.Ser10=) | |
| 1 | g.171652582G>C | CA343720125 | MYOC | c.30C>G (p.Ser10Arg) | gnomAD v4 |
| 1 | g.171652582G= | CA1207023276 | MYOC | c.30C= (p.Ser10=) | |
| 1 | g.171652582G>T | CA343720127 | MYOC | c.30C>A (p.Ser10Arg) | dbSNP |
| 1 | g.171652583C>A | CA343720129 | MYOC | c.29G>T (p.Ser10Ile) | |
| 1 | g.171652583C>G | CA343720132 | MYOC | c.29G>C (p.Ser10Thr) | |
| 1 | g.171652583C>T | CA343720134 | MYOC | c.29G>A (p.Ser10Asn) | |
| 1 | g.171652584T>A | CA343720137 | MYOC | c.28A>T (p.Ser10Cys) | |
| 1 | g.171652584T>C | CA343720141 | MYOC | c.28A>G (p.Ser10Gly) | |
| 1 | g.171652584T>G | CA343720139 | MYOC | c.28A>C (p.Ser10Arg) | |
| 1 | g.171652585G>A | CA421939368 | MYOC | c.27C>T (p.Cys9=) | gnomAD v4 |
| 1 | g.171652585G>C | CA343720144 | MYOC | c.27C>G (p.Cys9Trp) | |
| 1 | g.171652585G>T | CA343720146 | MYOC | c.27C>A (p.Cys9Ter) | |
| 1 | g.171652586C>A | CA343720149 | MYOC | c.26G>T (p.Cys9Phe) | gnomAD v4 |
| 1 | g.171652586C>G | CA343720151 | MYOC | c.26G>C (p.Cys9Ser) | ClinVar |
| 1 | g.171652586C>T | CA343720153 | MYOC | c.26G>A (p.Cys9Tyr) | |
| 1 | g.171652587A>C | CA343720156 | MYOC | c.25T>G (p.Cys9Gly) | |
| 1 | g.171652587A>G | CA343720158 | MYOC | c.25T>C (p.Cys9Arg) | |
| 1 | g.171652587A>T | CA343720159 | MYOC | c.25T>A (p.Cys9Ser) | |
| 1 | g.171652588G>A | CA421939369 | MYOC | c.24C>T (p.Cys8=) | |
| 1 | g.171652588G>C | CA343720162 | MYOC | c.24C>G (p.Cys8Trp) | |
| 1 | g.171652588G>T | CA343720163 | MYOC | c.24C>A (p.Cys8Ter) | ClinVar |
| 1 | g.171652589C>A | CA343720169 | MYOC | c.23G>T (p.Cys8Phe) | |
| 1 | g.171652589C>G | CA343720167 | MYOC | c.23G>C (p.Cys8Ser) | |
| 1 | g.171652589C>T | CA343720165 | MYOC | c.23G>A (p.Cys8Tyr) | |
| 1 | g.171652590A>C | CA343720172 | MYOC | c.22T>G (p.Cys8Gly) | |
| 1 | g.171652590A>G | CA343720175 | MYOC | c.22T>C (p.Cys8Arg) | |
| 1 | g.171652590A>T | CA343720174 | MYOC | c.22T>A (p.Cys8Ser) | |
| 1 | g.171652591A>C | CA421939372 | MYOC | c.21T>G (p.Arg7=) | |
| 1 | g.171652591A>G | CA421939374 | MYOC | c.21T>C (p.Arg7=) | |
| 1 | g.171652591A>T | CA421939375 | MYOC | c.21T>A (p.Arg7=) | |
| 1 | g.171652592C>A | CA343720177 | MYOC | c.20G>T (p.Arg7Leu) | |
| 1 | g.171652592C= | CA1207023277 | MYOC | c.20G= (p.Arg7=) | |
| 1 | g.171652592C>G | CA343720182 | MYOC | c.20G>C (p.Arg7Pro) | |
| 1 | g.171652592C>T | CA1244346 | MYOC | c.20G>A (p.Arg7His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652593G>A | CA343720184 | MYOC | c.19C>T (p.Arg7Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652593G>C | CA343720187 | MYOC | c.19C>G (p.Arg7Gly) | |
| 1 | g.171652593G= | CA1207023278 | MYOC | c.19C= (p.Arg7=) | |
| 1 | g.171652593G>T | CA343720189 | MYOC | c.19C>A (p.Arg7Ser) | dbSNP |
| 1 | g.171652594T>A | CA421939383 | MYOC | c.18A>T (p.Ala6=) | |
| 1 | g.171652594T>C | CA421939389 | MYOC | c.18A>G (p.Ala6=) | |
| 1 | g.171652594T>G | CA421939391 | MYOC | c.18A>C (p.Ala6=) | |
| 1 | g.171652595G>A | CA343720191 | MYOC | c.17C>T (p.Ala6Val) | |
| 1 | g.171652595G>C | CA343720193 | MYOC | c.17C>G (p.Ala6Gly) | |
| 1 | g.171652595G>T | CA343720195 | MYOC | c.17C>A (p.Ala6Glu) | |
| 1 | g.171652596C>A | CA343720198 | MYOC | c.16G>T (p.Ala6Ser) | |
| 1 | g.171652596C= | CA1207023279 | MYOC | c.16G= (p.Ala6=) | |
| 1 | g.171652596C>G | CA343720200 | MYOC | c.16G>C (p.Ala6Pro) | |
| 1 | g.171652596C>T | CA1244347 | MYOC | c.16G>A (p.Ala6Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652597A= | CA1207023280 | MYOC | c.15T= (p.Cys5=) | |
| 1 | g.171652597A>C | CA343720203 | MYOC | c.15T>G (p.Cys5Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652597A>G | CA421939397 | MYOC | c.15T>C (p.Cys5=) | |
| 1 | g.171652597A>T | CA343720206 | MYOC | c.15T>A (p.Cys5Ter) | |
| 1 | g.171652598C>A | CA343720211 | MYOC | c.14G>T (p.Cys5Phe) | |
| 1 | g.171652598C= | CA1207023281 | MYOC | c.14G= (p.Cys5=) | |
| 1 | g.171652598C>G | CA343720208 | MYOC | c.14G>C (p.Cys5Ser) | dbSNP |
| 1 | g.171652598C>T | CA343720209 | MYOC | c.14G>A (p.Cys5Tyr) | ClinVar |
| 1 | g.171652599A>C | CA343720213 | MYOC | c.13T>G (p.Cys5Gly) | |
| 1 | g.171652599A>G | CA343720215 | MYOC | c.13T>C (p.Cys5Arg) | |
| 1 | g.171652599A>T | CA343720218 | MYOC | c.13T>A (p.Cys5Ser) | gnomAD v4 |
| 1 | g.171652600G>A | CA421939407 | MYOC | c.12C>T (p.Phe4=) | |
| 1 | g.171652600G>C | CA343720220 | MYOC | c.12C>G (p.Phe4Leu) | |
| 1 | g.171652600G>T | CA343720222 | MYOC | c.12C>A (p.Phe4Leu) | |
| 1 | g.171652601A= | CA1207023282 | MYOC | c.11T= (p.Phe4=) | |
| 1 | g.171652601A>C | CA343720224 | MYOC | c.11T>G (p.Phe4Cys) | |
| 1 | g.171652601A>G | CA343720226 | MYOC | c.11T>C (p.Phe4Ser) | ClinVar dbSNP gnomAD v4 |
| 1 | g.171652601A>T | CA343720228 | MYOC | c.11T>A (p.Phe4Tyr) | |
| 1 | g.171652602A>C | CA343720229 | MYOC | c.10T>G (p.Phe4Val) | |
| 1 | g.171652602A>G | CA343720231 | MYOC | c.10T>C (p.Phe4Leu) | |
| 1 | g.171652602A>T | CA343720232 | MYOC | c.10T>A (p.Phe4Ile) | |
| 1 | g.171652603G>A | CA421939416 | MYOC | c.9C>T (p.Phe3=) | |
| 1 | g.171652603G>C | CA343720237 | MYOC | c.9C>G (p.Phe3Leu) | |
| 1 | g.171652603G>T | CA343720235 | MYOC | c.9C>A (p.Phe3Leu) | |
| 1 | g.171652604A>C | CA343720240 | MYOC | c.8T>G (p.Phe3Cys) | |
| 1 | g.171652604A>G | CA343720243 | MYOC | c.8T>C (p.Phe3Ser) | |
| 1 | g.171652604A>T | CA343720245 | MYOC | c.8T>A (p.Phe3Tyr) | |
| 1 | g.171652605A>C | CA343720247 | MYOC | c.7T>G (p.Phe3Val) | |
| 1 | g.171652605A>G | CA343720252 | MYOC | c.7T>C (p.Phe3Leu) | |
| 1 | g.171652605A>T | CA343720254 | MYOC | c.7T>A (p.Phe3Ile) | |
| 1 | g.171652606C>A | CA343720257 | MYOC | c.6G>T (p.Arg2Ser) | |
| 1 | g.171652606C>G | CA343720259 | MYOC | c.6G>C (p.Arg2Ser) | |
| 1 | g.171652606C>T | CA421939424 | MYOC | c.6G>A (p.Arg2=) | |
| 1 | g.171652607C>A | CA343720261 | MYOC | c.5G>T (p.Arg2Met) | |
| 1 | g.171652607C>G | CA343720263 | MYOC | c.5G>C (p.Arg2Thr) | |
| 1 | g.171652607C>T | CA343720266 | MYOC | c.5G>A (p.Arg2Lys) | |
| 1 | g.171652608T>A | CA343720269 | MYOC | c.4A>T (p.Arg2Trp) | |
| 1 | g.171652608T>C | CA343720271 | MYOC | c.4A>G (p.Arg2Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652608T>G | CA421939431 | MYOC | c.4A>C (p.Arg2=) | |
| 1 | g.171652608T= | CA1207023283 | MYOC | c.4A= (p.Arg2=) | |
| 1 | g.171652609C>A | CA343720278 | MYOC | c.3G>T (p.Met1Ile) | |
| 1 | g.171652609C>G | CA343720274 | MYOC | c.3G>C (p.Met1Ile) | |
| 1 | g.171652609C>T | CA343720275 | MYOC | c.3G>A (p.Met1Ile) | COSMIC |
| 1 | g.171652610A>C | CA343720282 | MYOC | c.2T>G (p.Met1Arg) | |
| 1 | g.171652610A>G | CA343720284 | MYOC | c.2T>C (p.Met1Thr) | dbSNP gnomAD v4 |
| 1 | g.171652610A>T | CA343720286 | MYOC | c.2T>A (p.Met1Lys) | |
| 1 | g.171652611T>A | CA343720288 | MYOC | c.1A>T (p.Met1Leu) | |
| 1 | g.171652611T>C | CA343720290 | MYOC | c.1A>G (p.Met1Val) | gnomAD v4 |
| 1 | g.171652611T>G | CA343720292 | MYOC | c.1A>C (p.Met1Leu) | |
| 1 | g.171652614C= | CA1207023284 | MYOC | c.-3G= (n.-3G=) | |
| 1 | g.171652614C>T | CA1207023285 | MYOC | c.-3G>A (n.-3G>A) | dbSNP |
| 1 | g.171652616G>A | CA2649106609 | MYOC | c.-5C>T (n.-5C>T) | gnomAD v4 |
| 1 | g.171652617A>G | CA2746628343 | MYOC | c.-6T>C (n.-6T>C) | |
| 1 | g.171652618G>A | CA891116729 | MYOC | c.-7C>T (n.-7C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.171652618G= | CA1207023286 | MYOC | c.-7C= (n.-7C=) | |
| 1 | g.171652618G>T | CA1244348 | MYOC | c.-7C>A (n.-7C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652619G>A | CA1244349 | MYOC | c.-8C>T (n.-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652619G= | CA1207023287 | MYOC | c.-8C= (n.-8C=) | |
| 1 | g.171652619G>T | CA891116730 | MYOC | c.-8C>A (n.-8C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.171652620_171652621insAG | CA2746628344 | MYOC | c.-10_-9insCT (n.-10_-9insCT) | |
| 1 | g.171652622T>C | CA2649106610 | MYOC | c.-11A>G (n.-11A>G) | gnomAD v4 |
| 1 | g.171652622_171652623delinsTG | CA1207023288 | MYOC | c.-12_-11delinsCA (n.-12_-11delinsCA) | |
| 1 | g.171652624del | CA1244350 | MYOC | c.-12del (n.-12del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652625T>A | CA2746628345 | MYOC | c.-14A>T (n.-14A>T) | |
| 1 | g.171652625T>C | CA2574087952 | MYOC | c.-14A>G (n.-14A>G) | |
| 1 | g.171652625T>G | CA646079422 | MYOC | c.-14A>C (n.-14A>C) | dbSNP |
| 1 | g.171652625T= | CA1207023289 | MYOC | c.-14A= (n.-14A=) | |
| 1 | g.171652628G>A | CA1244351 | MYOC | c.-17C>T (n.-17C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.171652628G= | CA1143716381 | MYOC | c.-17C= (n.-17C=) | |
| 1 | g.171652628G>T | CA527264240 | MYOC | c.-17C>A (n.-17C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652628_171652631del | CA2746628346 | MYOC | c.-20_-17del (n.-20_-17del) | |
| 1 | g.171652629G>A | CA1139770905 | MYOC | c.-18C>T (n.-18C>T) | gnomAD v4 |
| 1 | g.171652629G>T | CA2746628347 | MYOC | c.-18C>A (n.-18C>A) | |
| 1 | g.171652630C= | CA1207023290 | MYOC | c.-19G= (n.-19G=) | |
| 1 | g.171652630C>T | CA527264242 | MYOC | c.-19G>A (n.-19G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652633C= | CA1207023291 | MYOC | c.-22G= (n.-22G=) | |
| 1 | g.171652633C>T | CA1207023292 | MYOC | c.-22G>A (n.-22G>A) | dbSNP gnomAD v4 |
| 1 | g.171652636_171652637insACA | CA2746628348 | MYOC | c.-26_-25insTGT (n.-26_-25insTGT) | |
| 1 | g.171652638_171652639del | CA2746628350 | MYOC | c.-28_-27del (n.-28_-27del) | |
| 1 | g.171652639del | CA2746628349 | MYOC | c.-27del (n.-27del) | |
| 1 | g.171652639G>T | CA2649106611 | MYOC | c.-28C>A (n.-28C>A) | gnomAD v4 |
| 1 | g.171652641A>C | CA2746628351 | MYOC | c.-30T>G (n.-30T>G) | |
| 1 | g.171652641A>G | CA2746628352 | MYOC | c.-30T>C (n.-30T>C) | |
| 1 | g.171652642A>G | CA2649106612 | MYOC | c.-31T>C (n.-31T>C) | gnomAD v4 |
| 1 | g.171652643G>A | CA32667040 | MYOC | c.-32C>T (n.-32C>T) | dbSNP gnomAD v4 |
| 1 | g.171652643G= | CA1207023293 | MYOC | c.-32C= (n.-32C=) | |
| 1 | g.171652646C>G | CA2649106613 | MYOC | c.-35G>C (n.-35G>C) | gnomAD v4 |
| 1 | g.171652647T>C | CA1207023294 | MYOC | c.-36A>G (n.-36A>G) | dbSNP gnomAD v4 |
| 1 | g.171652647T= | CA1207023295 | MYOC | c.-36A= (n.-36A=) | |
| 1 | g.171652648G>A | CA1207023297 | MYOC | c.-37C>T (n.-37C>T) | dbSNP gnomAD v4 |
| 1 | g.171652648G= | CA1207023296 | MYOC | c.-37C= (n.-37C=) | |
| 1 | g.171652648G>T | CA2574087953 | MYOC | c.-37C>A (n.-37C>A) | gnomAD v4 |
| 1 | g.171652650T>C | CA2649106614 | MYOC | c.-39A>G (n.-39A>G) | gnomAD v4 |
| 1 | g.171652651G>A | CA1207023299 | MYOC | c.-40C>T (n.-40C>T) | dbSNP |
| 1 | g.171652651G= | CA1207023298 | MYOC | c.-40C= (n.-40C=) | |
| 1 | g.171652652T>C | CA891116737 | MYOC | c.-41A>G (n.-41A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.171652652T= | CA1207023300 | MYOC | c.-41A= (n.-41A=) | |
| 1 | g.171652653G>C | CA1244352 | MYOC | c.-42C>G (n.-42C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652653G= | CA1207023301 | MYOC | c.-42C= (n.-42C=) | |
| 1 | g.171652654C>G | CA2649106615 | MYOC | c.-43G>C (n.-43G>C) | gnomAD v4 |
| 1 | g.171652654C>T | CA2574087954 | MYOC | c.-43G>A (n.-43G>A) | |
| 1 | g.171652656del | CA2746628353 | MYOC | c.-45del (n.-45del) | |
| 1 | g.171652656G>T | CA2649106616 | MYOC | c.-45C>A (n.-45C>A) | gnomAD v4 |
| 1 | g.171652657A>G | CA2649106617 | MYOC | c.-46T>C (n.-46T>C) | gnomAD v4 |
| 1 | g.171652657A>T | CA2649106618 | MYOC | c.-46T>A (n.-46T>A) | gnomAD v4 |
| 1 | g.171652658G>C | CA2746628355 | MYOC | c.-47C>G (n.-47C>G) | |
| 1 | g.171652659_171652661del | CA2746628354 | MYOC | c.-49_-47del (n.-49_-47del) | |
| 1 | g.171652659A>T | CA2746628356 | MYOC | c.-48T>A (n.-48T>A) | |
| 1 | g.171652659_171652660delinsAG | CA1207023302 | MYOC | c.-49_-48delinsCT (n.-49_-48delinsCT) | |
| 1 | g.171652660G>A | CA2574087955 | MYOC | c.-49C>T (n.-49C>T) | |
| 1 | g.171652660G>C | CA2649106619 | MYOC | c.-49C>G (n.-49C>G) | gnomAD v4 |
| 1 | g.171652661del | CA527264245 | MYOC | c.-49del (n.-49del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171652660_171652664del | CA2746628357 | MYOC | c.-53_-49del (n.-53_-49del) | |
| 1 | g.171652661G>A | CA2649106620 | MYOC | c.-50C>T (n.-50C>T) | gnomAD v4 |