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 |
|---|---|---|---|---|---|
| 6 | g.12295984G>A | CA3638763 | EDN1 | c.556G>A (p.Val186Ile) c.553G>A (p.Val185Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12295984G>C | CA362857268 | EDN1 | c.556G>C (p.Val186Leu) c.553G>C (p.Val185Leu) | gnomAD v4 |
| 6 | g.12295984G= | CA1610830882 | EDN1 | c.556G= (p.Val186=) c.553G= (p.Val185=) | |
| 6 | g.12295984G>T | CA362857269 | EDN1 | c.556G>T (p.Val186Phe) c.553G>T (p.Val185Phe) | |
| 6 | g.12295985T>A | CA362857270 | EDN1 | c.557T>A (p.Val186Asp) c.554T>A (p.Val185Asp) | COSMIC |
| 6 | g.12295985T>C | CA362857272 | EDN1 | c.557T>C (p.Val186Ala) c.554T>C (p.Val185Ala) | |
| 6 | g.12295985T>G | CA362857271 | EDN1 | c.557T>G (p.Val186Gly) c.554T>G (p.Val185Gly) | |
| 6 | g.12295986C>A | CA448427942 | EDN1 | c.558C>A (p.Val186=) c.555C>A (p.Val185=) | gnomAD v4 |
| 6 | g.12295986C= | CA1610830885 | EDN1 | c.558C= (p.Val186=) c.555C= (p.Val185=) | |
| 6 | g.12295986C>G | CA448427944 | EDN1 | c.558C>G (p.Val186=) c.555C>G (p.Val185=) | dbSNP |
| 6 | g.12295986C>T | CA448427943 | EDN1 | c.558C>T (p.Val186=) c.555C>T (p.Val185=) | |
| 6 | g.12295987A>C | CA362857273 | EDN1 | c.559A>C (p.Lys187Gln) c.556A>C (p.Lys186Gln) | |
| 6 | g.12295987A>G | CA362857274 | EDN1 | c.559A>G (p.Lys187Glu) c.556A>G (p.Lys186Glu) | |
| 6 | g.12295987A>T | CA362857275 | EDN1 | c.559A>T (p.Lys187Ter) c.556A>T (p.Lys186Ter) | |
| 6 | g.12295988A>C | CA362857276 | EDN1 | c.560A>C (p.Lys187Thr) c.557A>C (p.Lys186Thr) | |
| 6 | g.12295988A>G | CA362857277 | EDN1 | c.560A>G (p.Lys187Arg) c.557A>G (p.Lys186Arg) | COSMIC |
| 6 | g.12295988A>T | CA362857278 | EDN1 | c.560A>T (p.Lys187Ile) c.557A>T (p.Lys186Ile) | |
| 6 | g.12295989A>C | CA362857279 | EDN1 | c.561A>C (p.Lys187Asn) c.558A>C (p.Lys186Asn) | |
| 6 | g.12295989A>G | CA448427945 | EDN1 | c.561A>G (p.Lys187=) c.558A>G (p.Lys186=) | |
| 6 | g.12295989A>T | CA362857280 | EDN1 | c.561A>T (p.Lys187Asn) c.558A>T (p.Lys186Asn) | |
| 6 | g.12295990T>A | CA362857281 | EDN1 | c.562T>A (p.Ser188Thr) c.559T>A (p.Ser187Thr) | |
| 6 | g.12295990T>C | CA362857282 | EDN1 | c.562T>C (p.Ser188Pro) c.559T>C (p.Ser187Pro) | |
| 6 | g.12295990T>G | CA362857283 | EDN1 | c.562T>G (p.Ser188Ala) c.559T>G (p.Ser187Ala) | |
| 6 | g.12295991C>A | CA362857285 | EDN1 | c.563C>A (p.Ser188Ter) c.560C>A (p.Ser187Ter) | |
| 6 | g.12295991C= | CA1610830888 | EDN1 | c.563C= (p.Ser188=) c.560C= (p.Ser187=) | |
| 6 | g.12295991C>G | CA362857286 | EDN1 | c.563C>G (p.Ser188Ter) c.560C>G (p.Ser187Ter) | |
| 6 | g.12295991C>T | CA362857284 | EDN1 | c.563C>T (p.Ser188Leu) c.560C>T (p.Ser187Leu) | dbSNP |
| 6 | g.12295992A>C | CA448427946 | EDN1 | c.564A>C (p.Ser188=) c.561A>C (p.Ser187=) | |
| 6 | g.12295992A>G | CA448427947 | EDN1 | c.564A>G (p.Ser188=) c.561A>G (p.Ser187=) | |
| 6 | g.12295992A>T | CA448427948 | EDN1 | c.564A>T (p.Ser188=) c.561A>T (p.Ser187=) | |
| 6 | g.12295993T>A | CA362857287 | EDN1 | c.565T>A (p.Ser189Thr) c.562T>A (p.Ser188Thr) | |
| 6 | g.12295993T>C | CA362857288 | EDN1 | c.565T>C (p.Ser189Pro) c.562T>C (p.Ser188Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12295993T>G | CA3638764 | EDN1 | c.565T>G (p.Ser189Ala) c.562T>G (p.Ser188Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12295993T= | CA1610830890 | EDN1 | c.565T= (p.Ser189=) c.562T= (p.Ser188=) | |
| 6 | g.12295994C>A | CA362857289 | EDN1 | c.566C>A (p.Ser189Tyr) c.563C>A (p.Ser188Tyr) | |
| 6 | g.12295994C= | CA1610830895 | EDN1 | c.566C= (p.Ser189=) c.563C= (p.Ser188=) | |
| 6 | g.12295994C>G | CA362857290 | EDN1 | c.566C>G (p.Ser189Cys) c.563C>G (p.Ser188Cys) | dbSNP |
| 6 | g.12295994C>T | CA362857291 | EDN1 | c.566C>T (p.Ser189Phe) c.563C>T (p.Ser188Phe) | |
| 6 | g.12295995T>A | CA448427949 | EDN1 | c.567T>A (p.Ser189=) c.564T>A (p.Ser188=) | |
| 6 | g.12295995T>C | CA448427950 | EDN1 | c.567T>C (p.Ser189=) c.564T>C (p.Ser188=) | |
| 6 | g.12295995T>G | CA448427951 | EDN1 | c.567T>G (p.Ser189=) c.564T>G (p.Ser188=) | |
| 6 | g.12295996T>A | CA362857294 | EDN1 | c.568T>A (p.Phe190Ile) c.565T>A (p.Phe189Ile) | |
| 6 | g.12295996T>C | CA362857292 | EDN1 | c.568T>C (p.Phe190Leu) c.565T>C (p.Phe189Leu) | gnomAD v4 |
| 6 | g.12295996T>G | CA362857293 | EDN1 | c.568T>G (p.Phe190Val) c.565T>G (p.Phe189Val) | |
| 6 | g.12295997T>A | CA362857295 | EDN1 | c.569T>A (p.Phe190Tyr) c.566T>A (p.Phe189Tyr) | |
| 6 | g.12295997T>C | CA362857296 | EDN1 | c.569T>C (p.Phe190Ser) c.566T>C (p.Phe189Ser) | |
| 6 | g.12295997T>G | CA362857297 | EDN1 | c.569T>G (p.Phe190Cys) c.566T>G (p.Phe189Cys) | |
| 6 | g.12295998T>A | CA362857298 | EDN1 | c.570T>A (p.Phe190Leu) c.567T>A (p.Phe189Leu) | |
| 6 | g.12295998T>C | CA448427952 | EDN1 | c.570T>C (p.Phe190=) c.567T>C (p.Phe189=) | gnomAD v4 |
| 6 | g.12295998T>G | CA3638765 | EDN1 | c.570T>G (p.Phe190Leu) c.567T>G (p.Phe189Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12295998T= | CA1610830897 | EDN1 | c.570T= (p.Phe190=) c.567T= (p.Phe189=) | |
| 6 | g.12295999C>A | CA362857301 | EDN1 | c.571C>A (p.His191Asn) c.568C>A (p.His190Asn) | |
| 6 | g.12295999C>G | CA362857299 | EDN1 | c.571C>G (p.His191Asp) c.568C>G (p.His190Asp) | |
| 6 | g.12295999C>T | CA362857300 | EDN1 | c.571C>T (p.His191Tyr) c.568C>T (p.His190Tyr) | gnomAD v4 |
| 6 | g.12296000A>C | CA362857302 | EDN1 | c.572A>C (p.His191Pro) c.569A>C (p.His190Pro) | |
| 6 | g.12296000A>G | CA362857303 | EDN1 | c.572A>G (p.His191Arg) c.569A>G (p.His190Arg) | gnomAD v4 |
| 6 | g.12296000A>T | CA362857304 | EDN1 | c.572A>T (p.His191Leu) c.569A>T (p.His190Leu) | |
| 6 | g.12296001T>A | CA362857305 | EDN1 | c.573T>A (p.His191Gln) c.570T>A (p.His190Gln) | gnomAD v4 COSMIC |
| 6 | g.12296001T>C | CA448427953 | EDN1 | c.573T>C (p.His191=) c.570T>C (p.His190=) | |
| 6 | g.12296001T>G | CA362857306 | EDN1 | c.573T>G (p.His191Gln) c.570T>G (p.His190Gln) | |
| 6 | g.12296002G>A | CA362857307 | EDN1 | c.574G>A (p.Asp192Asn) c.571G>A (p.Asp191Asn) | COSMIC |
| 6 | g.12296002G>C | CA3638766 | EDN1 | c.574G>C (p.Asp192His) c.571G>C (p.Asp191His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12296002G= | CA1610830900 | EDN1 | c.574G= (p.Asp192=) c.571G= (p.Asp191=) | |
| 6 | g.12296002G>T | CA362857308 | EDN1 | c.574G>T (p.Asp192Tyr) c.571G>T (p.Asp191Tyr) | dbSNP gnomAD v4 |
| 6 | g.12296003A= | CA1610830902 | EDN1 | c.575A= (p.Asp192=) c.572A= (p.Asp191=) | |
| 6 | g.12296003A>C | CA362857309 | EDN1 | c.575A>C (p.Asp192Ala) c.572A>C (p.Asp191Ala) | |
| 6 | g.12296003A>G | CA362857310 | EDN1 | c.575A>G (p.Asp192Gly) c.572A>G (p.Asp191Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12296003A>T | CA3638767 | EDN1 | c.575A>T (p.Asp192Val) c.572A>T (p.Asp191Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12296004T>A | CA362857311 | EDN1 | c.576T>A (p.Asp192Glu) c.573T>A (p.Asp191Glu) | |
| 6 | g.12296004T>C | CA448427954 | EDN1 | c.576T>C (p.Asp192=) c.573T>C (p.Asp191=) | |
| 6 | g.12296004T>G | CA362857312 | EDN1 | c.576T>G (p.Asp192Glu) c.573T>G (p.Asp191Glu) | |
| 6 | g.12296005C>A | CA362857313 | EDN1 | c.577C>A (p.Pro193Thr) c.574C>A (p.Pro192Thr) | |
| 6 | g.12296005C>G | CA362857315 | EDN1 | c.577C>G (p.Pro193Ala) c.574C>G (p.Pro192Ala) | |
| 6 | g.12296005C>T | CA362857314 | EDN1 | c.577C>T (p.Pro193Ser) c.574C>T (p.Pro192Ser) | |
| 6 | g.12296006C>A | CA362857316 | EDN1 | c.578C>A (p.Pro193His) c.575C>A (p.Pro192His) | |
| 6 | g.12296006C>G | CA362857317 | EDN1 | c.578C>G (p.Pro193Arg) c.575C>G (p.Pro192Arg) | |
| 6 | g.12296006C>T | CA362857318 | EDN1 | c.578C>T (p.Pro193Leu) c.575C>T (p.Pro192Leu) | |
| 6 | g.12296007C>A | CA448427956 | EDN1 | c.579C>A (p.Pro193=) c.576C>A (p.Pro192=) | |
| 6 | g.12296007C= | CA1610830907 | EDN1 | c.579C= (p.Pro193=) c.576C= (p.Pro192=) | |
| 6 | g.12296007C>G | CA448427957 | EDN1 | c.579C>G (p.Pro193=) c.576C>G (p.Pro192=) | gnomAD v4 |
| 6 | g.12296007C>T | CA3638768 | EDN1 | c.579C>T (p.Pro193=) c.576C>T (p.Pro192=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12296008A>C | CA362857319 | EDN1 | c.580A>C (p.Lys194Gln) c.577A>C (p.Lys193Gln) | |
| 6 | g.12296008A>G | CA362857320 | EDN1 | c.580A>G (p.Lys194Glu) c.577A>G (p.Lys193Glu) | |
| 6 | g.12296008A>T | CA362857321 | EDN1 | c.580A>T (p.Lys194Ter) c.577A>T (p.Lys193Ter) | |
| 6 | g.12296009A= | CA1610830910 | EDN1 | c.581A= (p.Lys194=) c.578A= (p.Lys193=) | |
| 6 | g.12296009A>C | CA134218075 | EDN1 | c.581A>C (p.Lys194Thr) c.578A>C (p.Lys193Thr) | dbSNP |
| 6 | g.12296009A>G | CA362857323 | EDN1 | c.581A>G (p.Lys194Arg) c.578A>G (p.Lys193Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12296009A>T | CA362857322 | EDN1 | c.581A>T (p.Lys194Met) c.578A>T (p.Lys193Met) | |
| 6 | g.12296010G>A | CA448427959 | EDN1 | c.582G>A (p.Lys194=) c.579G>A (p.Lys193=) | |
| 6 | g.12296010G>C | CA362857324 | EDN1 | c.582G>C (p.Lys194Asn) c.579G>C (p.Lys193Asn) | |
| 6 | g.12296010G>T | CA362857325 | EDN1 | c.582G>T (p.Lys194Asn) c.579G>T (p.Lys193Asn) | COSMIC |
| 6 | g.12296011C>A | CA362857326 | EDN1 | c.583C>A (p.Leu195Met) c.580C>A (p.Leu194Met) | |
| 6 | g.12296011C>G | CA362857327 | EDN1 | c.583C>G (p.Leu195Val) c.580C>G (p.Leu194Val) | |
| 6 | g.12296011C>T | CA448427960 | EDN1 | c.583C>T (p.Leu195=) c.580C>T (p.Leu194=) | COSMIC |
| 6 | g.12296012T>A | CA362857328 | EDN1 | c.584T>A (p.Leu195Gln) c.581T>A (p.Leu194Gln) | |
| 6 | g.12296012T>C | CA362857330 | EDN1 | c.584T>C (p.Leu195Pro) c.581T>C (p.Leu194Pro) | gnomAD v4 |
| 6 | g.12296012T>G | CA362857329 | EDN1 | c.584T>G (p.Leu195Arg) c.581T>G (p.Leu194Arg) | |
| 6 | g.12296013G>A | CA448427961 | EDN1 | c.585G>A (p.Leu195=) c.582G>A (p.Leu194=) | COSMIC |
| 6 | g.12296013G>C | CA448427962 | EDN1 | c.585G>C (p.Leu195=) c.582G>C (p.Leu194=) | |
| 6 | g.12296013G>T | CA448427963 | EDN1 | c.585G>T (p.Leu195=) c.582G>T (p.Leu194=) | |
| 6 | g.12296014A= | CA1610830914 | EDN1 | c.586A= (p.Lys196=) c.583A= (p.Lys195=) | |
| 6 | g.12296014A>C | CA362857331 | EDN1 | c.586A>C (p.Lys196Gln) c.583A>C (p.Lys195Gln) | |
| 6 | g.12296014A>G | CA362857332 | EDN1 | c.586A>G (p.Lys196Glu) c.583A>G (p.Lys195Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12296014A>T | CA362857333 | EDN1 | c.586A>T (p.Lys196Ter) c.583A>T (p.Lys195Ter) | |
| 6 | g.12296015A>C | CA362857334 | EDN1 | c.587A>C (p.Lys196Thr) c.584A>C (p.Lys195Thr) | |
| 6 | g.12296015A>G | CA362857335 | EDN1 | c.587A>G (p.Lys196Arg) c.584A>G (p.Lys195Arg) | |
| 6 | g.12296015A>T | CA362857336 | EDN1 | c.587A>T (p.Lys196Ile) c.584A>T (p.Lys195Ile) | |
| 6 | g.12296016A>C | CA362857337 | EDN1 | c.588A>C (p.Lys196Asn) c.585A>C (p.Lys195Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12296016A>G | CA448427964 | EDN1 | c.588A>G (p.Lys196=) c.585A>G (p.Lys195=) | |
| 6 | g.12296016A>T | CA362857338 | EDN1 | c.588A>T (p.Lys196Asn) c.585A>T (p.Lys195Asn) | |
| 6 | g.12296017G>A | CA362857339 | EDN1 | c.589G>A (p.Gly197Ser) c.586G>A (p.Gly196Ser) | |
| 6 | g.12296017G>C | CA362857340 | EDN1 | c.589G>C (p.Gly197Arg) c.586G>C (p.Gly196Arg) | gnomAD v4 |
| 6 | g.12296017G>T | CA362857341 | EDN1 | c.589G>T (p.Gly197Cys) c.586G>T (p.Gly196Cys) | |
| 6 | g.12296018G>A | CA362857343 | EDN1 | c.590G>A (p.Gly197Asp) c.587G>A (p.Gly196Asp) | gnomAD v4 |
| 6 | g.12296018G>C | CA3638769 | EDN1 | c.590G>C (p.Gly197Ala) c.587G>C (p.Gly196Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296018G= | CA1610830916 | EDN1 | c.590G= (p.Gly197=) c.587G= (p.Gly196=) | |
| 6 | g.12296018G>T | CA362857342 | EDN1 | c.590G>T (p.Gly197Val) c.587G>T (p.Gly196Val) | gnomAD v4 |
| 6 | g.12296019C>A | CA448427965 | EDN1 | c.591C>A (p.Gly197=) c.588C>A (p.Gly196=) | |
| 6 | g.12296019C>G | CA448427966 | EDN1 | c.591C>G (p.Gly197=) c.588C>G (p.Gly196=) | |
| 6 | g.12296019C>T | CA448427967 | EDN1 | c.591C>T (p.Gly197=) c.588C>T (p.Gly196=) | dbSNP |
| 6 | g.12296020A= | CA1610830921 | EDN1 | c.592A= (p.Lys198=) c.589A= (p.Lys197=) | |
| 6 | g.12296020A>C | CA362857344 | EDN1 | c.592A>C (p.Lys198Gln) c.589A>C (p.Lys197Gln) | |
| 6 | g.12296020A>G | CA362857346 | EDN1 | c.592A>G (p.Lys198Glu) c.589A>G (p.Lys197Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12296020A>T | CA362857345 | EDN1 | c.592A>T (p.Lys198Ter) c.589A>T (p.Lys197Ter) | |
| 6 | g.12296021A= | CA1610830924 | EDN1 | c.593A= (p.Lys198=) c.590A= (p.Lys197=) | |
| 6 | g.12296021A>C | CA362857347 | EDN1 | c.593A>C (p.Lys198Thr) c.590A>C (p.Lys197Thr) | |
| 6 | g.12296021A>G | CA3638770 | EDN1 | c.593A>G (p.Lys198Arg) c.590A>G (p.Lys197Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12296021A>T | CA362857348 | EDN1 | c.593A>T (p.Lys198Met) c.590A>T (p.Lys197Met) | |
| 6 | g.12296022G>A | CA448427968 | EDN1 | c.594G>A (p.Lys198=) c.591G>A (p.Lys197=) | |
| 6 | g.12296022G>C | CA362857349 | EDN1 | c.594G>C (p.Lys198Asn) c.591G>C (p.Lys197Asn) | |
| 6 | g.12296022G= | CA1610830931 | EDN1 | c.594G= (p.Lys198=) c.591G= (p.Lys197=) | |
| 6 | g.12296022G>T | CA126756 | EDN1 | c.594G>T (p.Lys198Asn) c.591G>T (p.Lys197Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296023C>A | CA362857350 | EDN1 | c.595C>A (p.Pro199Thr) c.592C>A (p.Pro198Thr) | gnomAD v4 |
| 6 | g.12296023C= | CA1610830938 | EDN1 | c.595C= (p.Pro199=) c.592C= (p.Pro198=) | |
| 6 | g.12296023C>G | CA362857351 | EDN1 | c.595C>G (p.Pro199Ala) c.592C>G (p.Pro198Ala) | |
| 6 | g.12296023C>T | CA3638771 | EDN1 | c.595C>T (p.Pro199Ser) c.592C>T (p.Pro198Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296024C>A | CA362857352 | EDN1 | c.596C>A (p.Pro199His) c.593C>A (p.Pro198His) | |
| 6 | g.12296024C= | CA1610830942 | EDN1 | c.596C= (p.Pro199=) c.593C= (p.Pro198=) | |
| 6 | g.12296024C>G | CA362857353 | EDN1 | c.596C>G (p.Pro199Arg) c.593C>G (p.Pro198Arg) | |
| 6 | g.12296024C>T | CA3638772 | EDN1 | c.596C>T (p.Pro199Leu) c.593C>T (p.Pro198Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.12296025C>A | CA448427969 | EDN1 | c.597C>A (p.Pro199=) c.594C>A (p.Pro198=) | |
| 6 | g.12296025C= | CA1610830946 | EDN1 | c.597C= (p.Pro199=) c.594C= (p.Pro198=) | |
| 6 | g.12296025C>G | CA448427970 | EDN1 | c.597C>G (p.Pro199=) c.594C>G (p.Pro198=) | |
| 6 | g.12296025C>T | CA3638773 | EDN1 | c.597C>T (p.Pro199=) c.594C>T (p.Pro198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12296026T>A | CA362857354 | EDN1 | c.598T>A (p.Ser200Thr) c.595T>A (p.Ser199Thr) | |
| 6 | g.12296026T>C | CA362857355 | EDN1 | c.598T>C (p.Ser200Pro) c.595T>C (p.Ser199Pro) | dbSNP |
| 6 | g.12296026T>G | CA362857356 | EDN1 | c.598T>G (p.Ser200Ala) c.595T>G (p.Ser199Ala) | |
| 6 | g.12296026T= | CA1610830948 | EDN1 | c.598T= (p.Ser200=) c.595T= (p.Ser199=) | |
| 6 | g.12296027C>A | CA362857359 | EDN1 | c.599C>A (p.Ser200Tyr) c.596C>A (p.Ser199Tyr) | |
| 6 | g.12296027C>G | CA362857358 | EDN1 | c.599C>G (p.Ser200Cys) c.596C>G (p.Ser199Cys) | |
| 6 | g.12296027C>T | CA362857357 | EDN1 | c.599C>T (p.Ser200Phe) c.596C>T (p.Ser199Phe) | |
| 6 | g.12296028C>A | CA448427971 | EDN1 | c.600C>A (p.Ser200=) c.597C>A (p.Ser199=) | |
| 6 | g.12296028C= | CA1610830951 | EDN1 | c.600C= (p.Ser200=) c.597C= (p.Ser199=) | |
| 6 | g.12296028C>G | CA448427973 | EDN1 | c.600C>G (p.Ser200=) c.597C>G (p.Ser199=) | |
| 6 | g.12296028C>T | CA448427972 | EDN1 | c.600C>T (p.Ser200=) c.597C>T (p.Ser199=) | gnomAD v4 |
| 6 | g.12296029A= | CA1610830957 | EDN1 | c.601A= (p.Arg201=) c.598A= (p.Arg200=) | |
| 6 | g.12296029A>C | CA448427974 | EDN1 | c.601A>C (p.Arg201=) c.598A>C (p.Arg200=) | |
| 6 | g.12296029A>G | CA3638774 | EDN1 | c.601A>G (p.Arg201Gly) c.598A>G (p.Arg200Gly) | dbSNP ExAC gnomAD v2 |
| 6 | g.12296029A>T | CA362857360 | EDN1 | c.601A>T (p.Arg201Ter) c.598A>T (p.Arg200Ter) | |
| 6 | g.12296029dup | CA565609779 | EDN1 | c.601dup (p.Arg201LysfsTer?) c.598dup (p.Arg200LysfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12296030G>A | CA362857361 | EDN1 | c.602G>A (p.Arg201Lys) c.599G>A (p.Arg200Lys) | |
| 6 | g.12296030G>C | CA362857362 | EDN1 | c.602G>C (p.Arg201Thr) c.599G>C (p.Arg200Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12296030G= | CA1610830962 | EDN1 | c.602G= (p.Arg201=) c.599G= (p.Arg200=) | |
| 6 | g.12296030G>T | CA362857363 | EDN1 | c.602G>T (p.Arg201Ile) c.599G>T (p.Arg200Ile) | |
| 6 | g.12296031A>C | CA362857364 | EDN1 | c.603A>C (p.Arg201Ser) c.600A>C (p.Arg200Ser) | |
| 6 | g.12296031A>G | CA448427975 | EDN1 | c.603A>G (p.Arg201=) c.600A>G (p.Arg200=) | |
| 6 | g.12296031A>T | CA362857365 | EDN1 | c.603A>T (p.Arg201Ser) c.600A>T (p.Arg200Ser) | |
| 6 | g.12296032G>A | CA134218082 | EDN1 | c.604G>A (p.Glu202Lys) c.601G>A (p.Glu201Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12296032G>C | CA362857366 | EDN1 | c.604G>C (p.Glu202Gln) c.601G>C (p.Glu201Gln) | |
| 6 | g.12296032G= | CA1610830965 | EDN1 | c.604G= (p.Glu202=) c.601G= (p.Glu201=) | |
| 6 | g.12296032G>T | CA362857367 | EDN1 | c.604G>T (p.Glu202Ter) c.601G>T (p.Glu201Ter) | |
| 6 | g.12296033A>C | CA362857368 | EDN1 | c.605A>C (p.Glu202Ala) c.602A>C (p.Glu201Ala) | |
| 6 | g.12296033A>G | CA362857369 | EDN1 | c.605A>G (p.Glu202Gly) c.602A>G (p.Glu201Gly) | gnomAD v4 |
| 6 | g.12296033A>T | CA362857370 | EDN1 | c.605A>T (p.Glu202Val) c.602A>T (p.Glu201Val) | |
| 6 | g.12296034G>A | CA448427976 | EDN1 | c.606G>A (p.Glu202=) c.603G>A (p.Glu201=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12296034G>C | CA362857371 | EDN1 | c.606G>C (p.Glu202Asp) c.603G>C (p.Glu201Asp) | gnomAD v4 |
| 6 | g.12296034G= | CA1610830969 | EDN1 | c.606G= (p.Glu202=) c.603G= (p.Glu201=) | |
| 6 | g.12296034G>T | CA362857372 | EDN1 | c.606G>T (p.Glu202Asp) c.603G>T (p.Glu201Asp) | |
| 6 | g.12296035C>A | CA362857373 | EDN1 | c.607C>A (p.Arg203Ser) c.604C>A (p.Arg202Ser) | |
| 6 | g.12296035C= | CA1610830974 | EDN1 | c.607C= (p.Arg203=) c.604C= (p.Arg202=) | |
| 6 | g.12296035C>G | CA362857374 | EDN1 | c.607C>G (p.Arg203Gly) c.604C>G (p.Arg202Gly) | dbSNP |
| 6 | g.12296035C>T | CA3638775 | EDN1 | c.607C>T (p.Arg203Cys) c.604C>T (p.Arg202Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296036G>A | CA134218085 | EDN1 | c.608G>A (p.Arg203His) c.605G>A (p.Arg202His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296036G>C | CA362857375 | EDN1 | c.608G>C (p.Arg203Pro) c.605G>C (p.Arg202Pro) | |
| 6 | g.12296036G= | CA1610830977 | EDN1 | c.608G= (p.Arg203=) c.605G= (p.Arg202=) | |
| 6 | g.12296036G>T | CA362857376 | EDN1 | c.608G>T (p.Arg203Leu) c.605G>T (p.Arg202Leu) | gnomAD v4 |
| 6 | g.12296037T>A | CA448427977 | EDN1 | c.609T>A (p.Arg203=) c.606T>A (p.Arg202=) | dbSNP gnomAD v2 |
| 6 | g.12296037T>C | CA448427978 | EDN1 | c.609T>C (p.Arg203=) c.606T>C (p.Arg202=) | |
| 6 | g.12296037T>G | CA448427979 | EDN1 | c.609T>G (p.Arg203=) c.606T>G (p.Arg202=) | |
| 6 | g.12296037T= | CA1610830979 | EDN1 | c.609T= (p.Arg203=) c.606T= (p.Arg202=) | |
| 6 | g.12296038del | CA2770023940 | EDN1 | c.610del (p.Tyr204MetfsTer2) c.607del (p.Tyr203MetfsTer2) | |
| 6 | g.12296038T>A | CA362857377 | EDN1 | c.610T>A (p.Tyr204Asn) c.607T>A (p.Tyr203Asn) | |
| 6 | g.12296038T>C | CA362857378 | EDN1 | c.610T>C (p.Tyr204His) c.607T>C (p.Tyr203His) | |
| 6 | g.12296038T>G | CA362857379 | EDN1 | c.610T>G (p.Tyr204Asp) c.607T>G (p.Tyr203Asp) | |
| 6 | g.12296038T= | CA1610830984 | EDN1 | c.610T= (p.Tyr204=) c.607T= (p.Tyr203=) | |
| 6 | g.12296039A= | CA1610830989 | EDN1 | c.611A= (p.Tyr204=) c.608A= (p.Tyr203=) | |
| 6 | g.12296039A>C | CA362857380 | EDN1 | c.611A>C (p.Tyr204Ser) c.608A>C (p.Tyr203Ser) | |
| 6 | g.12296039A>G | CA362857381 | EDN1 | c.611A>G (p.Tyr204Cys) c.608A>G (p.Tyr203Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12296039A>T | CA362857382 | EDN1 | c.611A>T (p.Tyr204Phe) c.608A>T (p.Tyr203Phe) | |
| 6 | g.12296039dup | CA1610830988 | EDN1 | c.611dup (p.Tyr204Ter) c.608dup (p.Tyr203Ter) | dbSNP |
| 6 | g.12296040T>A | CA362857384 | EDN1 | c.612T>A (p.Tyr204Ter) c.609T>A (p.Tyr203Ter) | dbSNP gnomAD v4 |
| 6 | g.12296040T>C | CA3638776 | EDN1 | c.612T>C (p.Tyr204=) c.609T>C (p.Tyr203=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296040T>G | CA362857383 | EDN1 | c.612T>G (p.Tyr204Ter) c.609T>G (p.Tyr203Ter) | |
| 6 | g.12296040T= | CA1610830992 | EDN1 | c.612T= (p.Tyr204=) c.609T= (p.Tyr203=) | |
| 6 | g.12296041G>A | CA362857385 | EDN1 | c.613G>A (p.Val205Met) c.610G>A (p.Val204Met) | |
| 6 | g.12296041G>C | CA362857386 | EDN1 | c.613G>C (p.Val205Leu) c.610G>C (p.Val204Leu) | |
| 6 | g.12296041G>T | CA362857387 | EDN1 | c.613G>T (p.Val205Leu) c.610G>T (p.Val204Leu) | |
| 6 | g.12296042T>A | CA362857388 | EDN1 | c.614T>A (p.Val205Glu) c.611T>A (p.Val204Glu) | dbSNP |
| 6 | g.12296042T>C | CA362857389 | EDN1 | c.614T>C (p.Val205Ala) c.611T>C (p.Val204Ala) | dbSNP |
| 6 | g.12296042T>G | CA362857390 | EDN1 | c.614T>G (p.Val205Gly) c.611T>G (p.Val204Gly) | |
| 6 | g.12296042T= | CA1610830996 | EDN1 | c.614T= (p.Val205=) c.611T= (p.Val204=) | |
| 6 | g.12296043G>A | CA448427980 | EDN1 | c.615G>A (p.Val205=) c.612G>A (p.Val204=) | |
| 6 | g.12296043G>C | CA448427981 | EDN1 | c.615G>C (p.Val205=) c.612G>C (p.Val204=) | |
| 6 | g.12296043G>T | CA448427982 | EDN1 | c.615G>T (p.Val205=) c.612G>T (p.Val204=) | |
| 6 | g.12296044A>C | CA362857391 | EDN1 | c.616A>C (p.Thr206Pro) c.613A>C (p.Thr205Pro) | |
| 6 | g.12296044A>G | CA362857393 | EDN1 | c.616A>G (p.Thr206Ala) c.613A>G (p.Thr205Ala) | gnomAD v4 |
| 6 | g.12296044A>T | CA362857392 | EDN1 | c.616A>T (p.Thr206Ser) c.613A>T (p.Thr205Ser) | |
| 6 | g.12296045C>A | CA362857394 | EDN1 | c.617C>A (p.Thr206Asn) c.614C>A (p.Thr205Asn) | |
| 6 | g.12296045C>G | CA362857395 | EDN1 | c.617C>G (p.Thr206Ser) c.614C>G (p.Thr205Ser) | ClinVar |
| 6 | g.12296045C>T | CA362857396 | EDN1 | c.617C>T (p.Thr206Ile) c.614C>T (p.Thr205Ile) | |
| 6 | g.12296046C>A | CA448427985 | EDN1 | c.618C>A (p.Thr206=) c.615C>A (p.Thr205=) | gnomAD v4 |
| 6 | g.12296046C>G | CA448427983 | EDN1 | c.618C>G (p.Thr206=) c.615C>G (p.Thr205=) | |
| 6 | g.12296046C>T | CA448427984 | EDN1 | c.618C>T (p.Thr206=) c.615C>T (p.Thr205=) | |
| 6 | g.12296048_12296053dup | CA2578531343 | EDN1 | c.620_625dup (p.Asn208_Arg209insHisAsn) c.617_622dup (p.Asn207_Arg208insHisAsn) | |
| 6 | g.12296046_12296056delinsCCACAACCGAG | CA1610830999 | EDN1 | c.618_628delinsCCACAACCGAG (p.Thr206=) c.615_625delinsCCACAACCGAG (p.Thr205=) | |
| 6 | g.12296047C>A | CA362857399 | EDN1 | c.619C>A (p.His207Asn) c.616C>A (p.His206Asn) | |
| 6 | g.12296047C= | CA1610831003 | EDN1 | c.619C= (p.His207=) c.616C= (p.His206=) | |
| 6 | g.12296047C>G | CA362857397 | EDN1 | c.619C>G (p.His207Asp) c.616C>G (p.His206Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12296047C>T | CA362857398 | EDN1 | c.619C>T (p.His207Tyr) c.616C>T (p.His206Tyr) | |
| 6 | g.12296051_12296060del | CA3638777 | EDN1 | c.623_632del (p.Asn208IlefsTer10) c.620_629del (p.Asn207IlefsTer10) | dbSNP ExAC gnomAD v2 |
| 6 | g.12296048A>C | CA362857400 | EDN1 | c.620A>C (p.His207Pro) c.617A>C (p.His206Pro) | |
| 6 | g.12296048A>G | CA362857401 | EDN1 | c.620A>G (p.His207Arg) c.617A>G (p.His206Arg) | |
| 6 | g.12296048A>T | CA362857402 | EDN1 | c.620A>T (p.His207Leu) c.617A>T (p.His206Leu) | |
| 6 | g.12296049C>A | CA362857403 | EDN1 | c.621C>A (p.His207Gln) c.618C>A (p.His206Gln) | |
| 6 | g.12296049C>G | CA362857404 | EDN1 | c.621C>G (p.His207Gln) c.618C>G (p.His206Gln) | gnomAD v4 |
| 6 | g.12296049C>T | CA448427986 | EDN1 | c.621C>T (p.His207=) c.618C>T (p.His206=) | |
| 6 | g.12296050A>C | CA362857405 | EDN1 | c.622A>C (p.Asn208His) c.619A>C (p.Asn207His) | |
| 6 | g.12296050A>G | CA362857406 | EDN1 | c.622A>G (p.Asn208Asp) c.619A>G (p.Asn207Asp) | |
| 6 | g.12296050A>T | CA362857407 | EDN1 | c.622A>T (p.Asn208Tyr) c.619A>T (p.Asn207Tyr) | |
| 6 | g.12296051A>C | CA362857408 | EDN1 | c.623A>C (p.Asn208Thr) c.620A>C (p.Asn207Thr) | |
| 6 | g.12296051A>G | CA362857409 | EDN1 | c.623A>G (p.Asn208Ser) c.620A>G (p.Asn207Ser) | |
| 6 | g.12296051A>T | CA362857410 | EDN1 | c.623A>T (p.Asn208Ile) c.620A>T (p.Asn207Ile) | |
| 6 | g.12296051_12296052delinsAC | CA1610831006 | EDN1 | c.623_624delinsAC (p.Asn208=) c.620_621delinsAC (p.Asn207=) | |
| 6 | g.12296052C>A | CA362857411 | EDN1 | c.624C>A (p.Asn208Lys) c.621C>A (p.Asn207Lys) | gnomAD v4 |
| 6 | g.12296052C= | CA1610831009 | EDN1 | c.624C= (p.Asn208=) c.621C= (p.Asn207=) | |
| 6 | g.12296052C>G | CA362857412 | EDN1 | c.624C>G (p.Asn208Lys) c.621C>G (p.Asn207Lys) | |
| 6 | g.12296052C>T | CA448427987 | EDN1 | c.624C>T (p.Asn208=) c.621C>T (p.Asn207=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296053del | CA1610831008 | EDN1 | c.625del (p.Arg209GlufsTer12) c.622del (p.Arg208GlufsTer12) | dbSNP |
| 6 | g.12296053C>A | CA448427988 | EDN1 | c.625C>A (p.Arg209=) c.622C>A (p.Arg208=) | |
| 6 | g.12296053C= | CA1610831012 | EDN1 | c.625C= (p.Arg209=) c.622C= (p.Arg208=) | |
| 6 | g.12296053C>G | CA362857413 | EDN1 | c.625C>G (p.Arg209Gly) c.622C>G (p.Arg208Gly) | gnomAD v4 |
| 6 | g.12296053C>T | CA3638778 | EDN1 | c.625C>T (p.Arg209Ter) c.622C>T (p.Arg208Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296054G>A | CA3638779 | EDN1 | c.626G>A (p.Arg209Gln) c.623G>A (p.Arg208Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.12296054G>C | CA362857415 | EDN1 | c.626G>C (p.Arg209Pro) c.623G>C (p.Arg208Pro) | |
| 6 | g.12296054G= | CA1610831013 | EDN1 | c.626G= (p.Arg209=) c.623G= (p.Arg208=) | |
| 6 | g.12296054G>T | CA362857414 | EDN1 | c.626G>T (p.Arg209Leu) c.623G>T (p.Arg208Leu) | gnomAD v4 |
| 6 | g.12296055A>C | CA448427991 | EDN1 | c.627A>C (p.Arg209=) c.624A>C (p.Arg208=) | gnomAD v4 |
| 6 | g.12296055A>G | CA448427990 | EDN1 | c.627A>G (p.Arg209=) c.624A>G (p.Arg208=) | gnomAD v4 |
| 6 | g.12296055A>T | CA448427989 | EDN1 | c.627A>T (p.Arg209=) c.624A>T (p.Arg208=) | |
| 6 | g.12296056G>A | CA362857416 | EDN1 | c.628G>A (p.Ala210Thr) c.625G>A (p.Ala209Thr) | gnomAD v4 |
| 6 | g.12296056G>C | CA362857417 | EDN1 | c.628G>C (p.Ala210Pro) c.625G>C (p.Ala209Pro) | |
| 6 | g.12296056G>T | CA362857418 | EDN1 | c.628G>T (p.Ala210Ser) c.625G>T (p.Ala209Ser) | gnomAD v4 |
| 6 | g.12296057C>A | CA362857419 | EDN1 | c.629C>A (p.Ala210Glu) c.626C>A (p.Ala209Glu) | |
| 6 | g.12296057C= | CA1610831016 | EDN1 | c.629C= (p.Ala210=) c.626C= (p.Ala209=) | |
| 6 | g.12296057C>G | CA362857420 | EDN1 | c.629C>G (p.Ala210Gly) c.626C>G (p.Ala209Gly) | |
| 6 | g.12296057C>T | CA362857421 | EDN1 | c.629C>T (p.Ala210Val) c.626C>T (p.Ala209Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12296058A>C | CA448427992 | EDN1 | c.630A>C (p.Ala210=) c.627A>C (p.Ala209=) | |
| 6 | g.12296058A>G | CA448427993 | EDN1 | c.630A>G (p.Ala210=) c.627A>G (p.Ala209=) | |
| 6 | g.12296058A>T | CA448427994 | EDN1 | c.630A>T (p.Ala210=) c.627A>T (p.Ala209=) | |
| 6 | g.12296059C>A | CA362857422 | EDN1 | c.631C>A (p.His211Asn) c.628C>A (p.His210Asn) | |
| 6 | g.12296059C>G | CA362857423 | EDN1 | c.631C>G (p.His211Asp) c.628C>G (p.His210Asp) | |
| 6 | g.12296059C>T | CA362857424 | EDN1 | c.631C>T (p.His211Tyr) c.628C>T (p.His210Tyr) | |
| 6 | g.12296060A= | CA1610831018 | EDN1 | c.632A= (p.His211=) c.629A= (p.His210=) | |
| 6 | g.12296060A>C | CA362857426 | EDN1 | c.632A>C (p.His211Pro) c.629A>C (p.His210Pro) | |
| 6 | g.12296060A>G | CA3638780 | EDN1 | c.632A>G (p.His211Arg) c.629A>G (p.His210Arg) | dbSNP ExAC gnomAD v4 |
| 6 | g.12296060A>T | CA362857425 | EDN1 | c.632A>T (p.His211Leu) c.629A>T (p.His210Leu) | |
| 6 | g.12296061T>A | CA362857427 | EDN1 | c.633T>A (p.His211Gln) c.630T>A (p.His210Gln) | |
| 6 | g.12296061T>C | CA3638781 | EDN1 | c.633T>C (p.His211=) c.630T>C (p.His210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296061T>G | CA362857428 | EDN1 | c.633T>G (p.His211Gln) c.630T>G (p.His210Gln) | dbSNP |
| 6 | g.12296061T= | CA1610831021 | EDN1 | c.633T= (p.His211=) c.630T= (p.His210=) | |
| 6 | g.12296062T>A | CA362857429 | EDN1 | c.634T>A (p.Trp212Arg) c.631T>A (p.Trp211Arg) | |
| 6 | g.12296062T>C | CA3638782 | EDN1 | c.634T>C (p.Trp212Arg) c.631T>C (p.Trp211Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296062T>G | CA362857430 | EDN1 | c.634T>G (p.Trp212Gly) c.631T>G (p.Trp211Gly) | |
| 6 | g.12296062T= | CA1610831026 | EDN1 | c.634T= (p.Trp212=) c.631T= (p.Trp211=) | |
| 6 | g.12296063G>A | CA362857431 | EDN1 | c.635G>A (p.Trp212Ter) c.632G>A (p.Trp211Ter) | |
| 6 | g.12296063G>C | CA362857432 | EDN1 | c.635G>C (p.Trp212Ser) c.632G>C (p.Trp211Ser) | |
| 6 | g.12296063G>T | CA362857433 | EDN1 | c.635G>T (p.Trp212Leu) c.632G>T (p.Trp211Leu) | |
| 6 | g.12296064G>A | CA134218091 | EDN1 | c.636G>A (p.Trp212Ter) c.633G>A (p.Trp211Ter) | dbSNP gnomAD v4 |
| 6 | g.12296064G>C | CA3638783 | EDN1 | c.636G>C (p.Trp212Cys) c.633G>C (p.Trp211Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12296064G= | CA1610831029 | EDN1 | c.636G= (p.Trp212=) c.633G= (p.Trp211=) | |
| 6 | g.12296064G>T | CA362857434 | EDN1 | c.636G>T (p.Trp212Cys) c.633G>T (p.Trp211Cys) | |
| 6 | g.12296065T>A | CA3638784 | EDN1 | c.637T>A (p.Ter213Arg) c.634T>A (p.Ter212Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12296065T>C | CA362857435 | EDN1 | c.637T>C (p.Ter213Arg) c.634T>C (p.Ter212Arg) | |
| 6 | g.12296065T>G | CA362857436 | EDN1 | c.637T>G (p.Ter213Gly) c.634T>G (p.Ter212Gly) | |
| 6 | g.12296065T= | CA1610831035 | EDN1 | c.637T= (p.Ter213=) c.634T= (p.Ter212=) | |
| 6 | g.12296066G>A | CA448427995 | EDN1 | c.638G>A (p.Ter213=) c.635G>A (p.Ter212=) | |
| 6 | g.12296066G>C | CA362857437 | EDN1 | c.638G>C (p.Ter213Ser) c.635G>C (p.Ter212Ser) | |
| 6 | g.12296066G>T | CA362857438 | EDN1 | c.638G>T (p.Ter213Leu) c.635G>T (p.Ter212Leu) | |
| 6 | g.12296067A= | CA1610831038 | EDN1 | c.639A= (p.Ter213=) c.636A= (p.Ter212=) | |
| 6 | g.12296067A>C | CA362857439 | EDN1 | c.639A>C (p.Ter213Cys) c.636A>C (p.Ter212Cys) | |
| 6 | g.12296067A>G | CA362857440 | EDN1 | c.639A>G (p.Ter213Trp) c.636A>G (p.Ter212Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12296067A>T | CA362857441 | EDN1 | c.639A>T (p.Ter213Cys) c.636A>T (p.Ter212Cys) | |
| 6 | g.12296070_12296071insGCCCCGAAGGTCTGTC | CA2677350378 | EDN1 | c.*3_*4insGCCCCGAAGGTCTGTC (n.*3_*4insGCCCCGAAGGTCTGTC) | gnomAD v4 |
| 6 | g.12296071dup | CA650509208 | EDN1 | c.*4dup (n.*4dup) | COSMIC |
| 6 | g.12296072C>A | CA1610831041 | EDN1 | c.*5C>A (n.*5C>A) | dbSNP gnomAD v4 |
| 6 | g.12296072C= | CA1610831040 | EDN1 | c.*5C= (n.*5C=) | |
| 6 | g.12296072C>T | CA1610831042 | EDN1 | c.*5C>T (n.*5C>T) | dbSNP gnomAD v4 |
| 6 | g.12296076C= | CA1610831045 | EDN1 | c.*9C= (n.*9C=) | |
| 6 | g.12296076C>T | CA3638785 | EDN1 | c.*9C>T (n.*9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296076_12296077delinsCG | CA1610831046 | EDN1 | c.*9_*10delinsCG (n.*9_*10delinsCG) | |
| 6 | g.12296077G>A | CA3638786 | EDN1 | c.*10G>A (n.*10G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296077G>C | CA2578531344 | EDN1 | c.*10G>C (n.*10G>C) | gnomAD v4 |
| 6 | g.12296077G= | CA1610831052 | EDN1 | c.*10G= (n.*10G=) | |
| 6 | g.12296080del | CA1610831048 | EDN1 | c.*13del (n.*13del) | dbSNP |
| 6 | g.12296078G>A | CA2578531345 | EDN1 | c.*11G>A (n.*11G>A) | gnomAD v4 |
| 6 | g.12296080G>A | CA3638787 | EDN1 | c.*13G>A (n.*13G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12296080G= | CA1610831053 | EDN1 | c.*13G= (n.*13G=) | |
| 6 | g.12296081C>A | CA3638789 | EDN1 | c.*14C>A (n.*14C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12296081C= | CA1610831056 | EDN1 | c.*14C= (n.*14C=) | |
| 6 | g.12296081C>T | CA3638788 | EDN1 | c.*14C>T (n.*14C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12296082C>A | CA2578531346 | EDN1 | c.*15C>A (n.*15C>A) |