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.12295941del | CA818232069 | EDN1 | c.534-21del (n.534-21del) c.531-21del (n.531-21del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12295941T>C | CA2677350371 | EDN1 | c.534-21T>C (n.534-21T>C) c.531-21T>C (n.531-21T>C) | dbSNP gnomAD v4 |
| 6 | g.12295941T>G | CA565609684 | EDN1 | c.534-21T>G (n.534-21T>G) c.531-21T>G (n.531-21T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12295941T= | CA1610830827 | EDN1 | c.534-21T= (n.534-21T=) c.531-21T= (n.531-21T=) | |
| 6 | g.12295942C>A | CA2578531342 | EDN1 | c.534-20C>A (n.534-20C>A) c.531-20C>A (n.531-20C>A) | dbSNP gnomAD v4 |
| 6 | g.12295942C>G | CA2677350372 | EDN1 | c.534-20C>G (n.534-20C>G) c.531-20C>G (n.531-20C>G) | gnomAD v4 |
| 6 | g.12295943T>C | CA3638753 | EDN1 | c.534-19T>C (n.534-19T>C) c.531-19T>C (n.531-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12295943T= | CA1610830829 | EDN1 | c.534-19T= (n.534-19T=) c.531-19T= (n.531-19T=) | |
| 6 | g.12295944C= | CA1610830833 | EDN1 | c.534-18C= (n.534-18C=) c.531-18C= (n.531-18C=) | |
| 6 | g.12295944C>T | CA1086047706 | EDN1 | c.534-18C>T (n.534-18C>T) c.531-18C>T (n.531-18C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12295946T>C | CA2770023931 | EDN1 | c.534-16T>C (n.534-16T>C) c.531-16T>C (n.531-16T>C) | |
| 6 | g.12295948T>A | CA3638754 | EDN1 | c.534-14T>A (n.534-14T>A) c.531-14T>A (n.531-14T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12295948T= | CA1610830835 | EDN1 | c.534-14T= (n.534-14T=) c.531-14T= (n.531-14T=) | |
| 6 | g.12295951del | CA2677350373 | EDN1 | c.534-11del (n.534-11del) c.531-11del (n.531-11del) | gnomAD v4 |
| 6 | g.12295952del | CA2677350374 | EDN1 | c.534-10del (n.534-10del) c.531-10del (n.531-10del) | gnomAD v4 |
| 6 | g.12295952G>A | CA2677350375 | EDN1 | c.534-10G>A (n.534-10G>A) c.531-10G>A (n.531-10G>A) | gnomAD v4 |
| 6 | g.12295952G= | CA1610830837 | EDN1 | c.534-10G= (n.534-10G=) c.531-10G= (n.531-10G=) | |
| 6 | g.12295952G>T | CA448427931 | EDN1 | c.534-10G>T (n.534-10G>T) c.531-10G>T (n.531-10G>T) | dbSNP |
| 6 | g.12295953C>A | CA565609695 | EDN1 | c.534-9C>A (n.534-9C>A) c.531-9C>A (n.531-9C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12295953C= | CA1610830838 | EDN1 | c.534-9C= (n.534-9C=) c.531-9C= (n.531-9C=) | |
| 6 | g.12295953C>T | CA3638755 | EDN1 | c.534-9C>T (n.534-9C>T) c.531-9C>T (n.531-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12295954T>A | CA1610830842 | EDN1 | c.534-8T>A (n.534-8T>A) c.531-8T>A (n.531-8T>A) | dbSNP |
| 6 | g.12295954T>C | CA3638756 | EDN1 | c.534-8T>C (n.534-8T>C) c.531-8T>C (n.531-8T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12295954T= | CA1610830841 | EDN1 | c.534-8T= (n.534-8T=) c.531-8T= (n.531-8T=) | |
| 6 | g.12295957A= | CA1610830844 | EDN1 | c.534-5A= (n.534-5A=) c.531-5A= (n.531-5A=) | |
| 6 | g.12295957A>G | CA3638757 | EDN1 | c.534-5A>G (n.534-5A>G) c.531-5A>G (n.531-5A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12295957A>T | CA3638758 | EDN1 | c.534-5A>T (n.534-5A>T) c.531-5A>T (n.531-5A>T) | dbSNP ExAC |
| 6 | g.12295958T>C | CA2677350376 | EDN1 | c.534-4T>C (n.534-4T>C) c.531-4T>C (n.531-4T>C) | gnomAD v4 |
| 6 | g.12295960A>C | CA362857212 | EDN1 | c.534-2A>C (n.534-2A>C) c.531-2A>C (n.531-2A>C) | |
| 6 | g.12295960A>G | CA362857210 | EDN1 | c.534-2A>G (n.534-2A>G) c.531-2A>G (n.531-2A>G) | gnomAD v4 COSMIC |
| 6 | g.12295960A>T | CA362857211 | EDN1 | c.534-2A>T (n.534-2A>T) c.531-2A>T (n.531-2A>T) | |
| 6 | g.12295961G>A | CA362857213 | EDN1 | c.534-1G>A (n.534-1G>A) c.531-1G>A (n.531-1G>A) | |
| 6 | g.12295961G>C | CA362857214 | EDN1 | c.534-1G>C (n.534-1G>C) c.531-1G>C (n.531-1G>C) | |
| 6 | g.12295961G>T | CA362857215 | EDN1 | c.534-1G>T (n.534-1G>T) c.531-1G>T (n.531-1G>T) | |
| 6 | g.12295962G>A | CA448427932 | EDN1 | c.534G>A (p.Arg178=) c.531G>A (p.Arg177=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12295962G>C | CA362857216 | EDN1 | c.534G>C (p.Arg178Ser) c.531G>C (p.Arg177Ser) | |
| 6 | g.12295962G= | CA1610830847 | EDN1 | c.534G= (p.Arg178=) c.531G= (p.Arg177=) | |
| 6 | g.12295962G>T | CA362857217 | EDN1 | c.534G>T (p.Arg178Ser) c.531G>T (p.Arg177Ser) | ClinVar dbSNP |
| 6 | g.12295963T>A | CA362857218 | EDN1 | c.535T>A (p.Ser179Thr) c.532T>A (p.Ser178Thr) | dbSNP gnomAD v2 |
| 6 | g.12295963T>C | CA362857219 | EDN1 | c.535T>C (p.Ser179Pro) c.532T>C (p.Ser178Pro) | |
| 6 | g.12295963T>G | CA362857220 | EDN1 | c.535T>G (p.Ser179Ala) c.532T>G (p.Ser178Ala) | |
| 6 | g.12295963T= | CA1610830851 | EDN1 | c.535T= (p.Ser179=) c.532T= (p.Ser178=) | |
| 6 | g.12295964C>A | CA362857221 | EDN1 | c.536C>A (p.Ser179Ter) c.533C>A (p.Ser178Ter) | dbSNP gnomAD v4 |
| 6 | g.12295964C= | CA1610830853 | EDN1 | c.536C= (p.Ser179=) c.533C= (p.Ser178=) | |
| 6 | g.12295964C>G | CA362857222 | EDN1 | c.536C>G (p.Ser179Trp) c.533C>G (p.Ser178Trp) | |
| 6 | g.12295964C>T | CA3638759 | EDN1 | c.536C>T (p.Ser179Leu) c.533C>T (p.Ser178Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12295965G>A | CA3638760 | EDN1 | c.537G>A (p.Ser179=) c.534G>A (p.Ser178=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.12295965G>C | CA448427933 | EDN1 | c.537G>C (p.Ser179=) c.534G>C (p.Ser178=) | |
| 6 | g.12295965G= | CA1610830857 | EDN1 | c.537G= (p.Ser179=) c.534G= (p.Ser178=) | |
| 6 | g.12295965G>T | CA448427934 | EDN1 | c.537G>T (p.Ser179=) c.534G>T (p.Ser178=) | |
| 6 | g.12295966G>A | CA362857225 | EDN1 | c.538G>A (p.Glu180Lys) c.535G>A (p.Glu179Lys) | |
| 6 | g.12295966G>C | CA362857224 | EDN1 | c.538G>C (p.Glu180Gln) c.535G>C (p.Glu179Gln) | |
| 6 | g.12295966G>T | CA362857223 | EDN1 | c.538G>T (p.Glu180Ter) c.535G>T (p.Glu179Ter) | |
| 6 | g.12295967A>C | CA362857227 | EDN1 | c.539A>C (p.Glu180Ala) c.536A>C (p.Glu179Ala) | |
| 6 | g.12295967A>G | CA362857226 | EDN1 | c.539A>G (p.Glu180Gly) c.536A>G (p.Glu179Gly) | |
| 6 | g.12295967A>T | CA362857228 | EDN1 | c.539A>T (p.Glu180Val) c.536A>T (p.Glu179Val) | |
| 6 | g.12295968G>A | CA448427935 | EDN1 | c.540G>A (p.Glu180=) c.537G>A (p.Glu179=) | COSMIC |
| 6 | g.12295968G>C | CA362857229 | EDN1 | c.540G>C (p.Glu180Asp) c.537G>C (p.Glu179Asp) | |
| 6 | g.12295968G= | CA1610830863 | EDN1 | c.540G= (p.Glu180=) c.537G= (p.Glu179=) | |
| 6 | g.12295968G>T | CA362857230 | EDN1 | c.540G>T (p.Glu180Asp) c.537G>T (p.Glu179Asp) | dbSNP gnomAD v2 |
| 6 | g.12295969A>C | CA362857231 | EDN1 | c.541A>C (p.Thr181Pro) c.538A>C (p.Thr180Pro) | |
| 6 | g.12295969A>G | CA362857232 | EDN1 | c.541A>G (p.Thr181Ala) c.538A>G (p.Thr180Ala) | |
| 6 | g.12295969A>T | CA362857233 | EDN1 | c.541A>T (p.Thr181Ser) c.538A>T (p.Thr180Ser) | |
| 6 | g.12295970C>A | CA362857234 | EDN1 | c.542C>A (p.Thr181Asn) c.539C>A (p.Thr180Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12295970C= | CA1610830865 | EDN1 | c.542C= (p.Thr181=) c.539C= (p.Thr180=) | |
| 6 | g.12295970C>G | CA362857235 | EDN1 | c.542C>G (p.Thr181Ser) c.539C>G (p.Thr180Ser) | dbSNP |
| 6 | g.12295970C>T | CA362857236 | EDN1 | c.542C>T (p.Thr181Ile) c.539C>T (p.Thr180Ile) | |
| 6 | g.12295971C>A | CA3638761 | EDN1 | c.543C>A (p.Thr181=) c.540C>A (p.Thr180=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12295971C= | CA1610830868 | EDN1 | c.543C= (p.Thr181=) c.540C= (p.Thr180=) | |
| 6 | g.12295971C>G | CA448427937 | EDN1 | c.543C>G (p.Thr181=) c.540C>G (p.Thr180=) | |
| 6 | g.12295971C>T | CA448427938 | EDN1 | c.543C>T (p.Thr181=) c.540C>T (p.Thr180=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.12295972A= | CA1610830870 | EDN1 | c.544A= (p.Met182=) c.541A= (p.Met181=) | |
| 6 | g.12295972A>C | CA3638762 | EDN1 | c.544A>C (p.Met182Leu) c.541A>C (p.Met181Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.12295972A>G | CA362857237 | EDN1 | c.544A>G (p.Met182Val) c.541A>G (p.Met181Val) | |
| 6 | g.12295972A>T | CA362857238 | EDN1 | c.544A>T (p.Met182Leu) c.541A>T (p.Met181Leu) | |
| 6 | g.12295973T>A | CA362857239 | EDN1 | c.545T>A (p.Met182Lys) c.542T>A (p.Met181Lys) | |
| 6 | g.12295973T>C | CA362857240 | EDN1 | c.545T>C (p.Met182Thr) c.542T>C (p.Met181Thr) | gnomAD v4 |
| 6 | g.12295973T>G | CA362857241 | EDN1 | c.545T>G (p.Met182Arg) c.542T>G (p.Met181Arg) | |
| 6 | g.12295974G>A | CA362857242 | EDN1 | c.546G>A (p.Met182Ile) c.543G>A (p.Met181Ile) | COSMIC |
| 6 | g.12295974G>C | CA362857244 | EDN1 | c.546G>C (p.Met182Ile) c.543G>C (p.Met181Ile) | gnomAD v4 |
| 6 | g.12295974G>T | CA362857243 | EDN1 | c.546G>T (p.Met182Ile) c.543G>T (p.Met181Ile) | |
| 6 | g.12295975A>C | CA448427939 | EDN1 | c.547A>C (p.Arg183=) c.544A>C (p.Arg182=) | |
| 6 | g.12295975A>G | CA362857245 | EDN1 | c.547A>G (p.Arg183Gly) c.544A>G (p.Arg182Gly) | |
| 6 | g.12295975A>T | CA362857246 | EDN1 | c.547A>T (p.Arg183Ter) c.544A>T (p.Arg182Ter) | |
| 6 | g.12295976G>A | CA362857247 | EDN1 | c.548G>A (p.Arg183Lys) c.545G>A (p.Arg182Lys) | dbSNP COSMIC |
| 6 | g.12295976G>C | CA362857248 | EDN1 | c.548G>C (p.Arg183Thr) c.545G>C (p.Arg182Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.12295976G= | CA1610830874 | EDN1 | c.548G= (p.Arg183=) c.545G= (p.Arg182=) | |
| 6 | g.12295976G>T | CA362857249 | EDN1 | c.548G>T (p.Arg183Ile) c.545G>T (p.Arg182Ile) | |
| 6 | g.12295977A>C | CA362857250 | EDN1 | c.549A>C (p.Arg183Ser) c.546A>C (p.Arg182Ser) | |
| 6 | g.12295977A>G | CA448427940 | EDN1 | c.549A>G (p.Arg183=) c.546A>G (p.Arg182=) | |
| 6 | g.12295977A>T | CA362857251 | EDN1 | c.549A>T (p.Arg183Ser) c.546A>T (p.Arg182Ser) | |
| 6 | g.12295978A>C | CA362857252 | EDN1 | c.550A>C (p.Asn184His) c.547A>C (p.Asn183His) | |
| 6 | g.12295978A>G | CA362857253 | EDN1 | c.550A>G (p.Asn184Asp) c.547A>G (p.Asn183Asp) | |
| 6 | g.12295978A>T | CA362857254 | EDN1 | c.550A>T (p.Asn184Tyr) c.547A>T (p.Asn183Tyr) | |
| 6 | g.12295979A>C | CA362857257 | EDN1 | c.551A>C (p.Asn184Thr) c.548A>C (p.Asn183Thr) | |
| 6 | g.12295979A>G | CA362857256 | EDN1 | c.551A>G (p.Asn184Ser) c.548A>G (p.Asn183Ser) | |
| 6 | g.12295979A>T | CA362857255 | EDN1 | c.551A>T (p.Asn184Ile) c.548A>T (p.Asn183Ile) | |
| 6 | g.12295980_12295981del | CA2677350377 | EDN1 | c.552_553del (p.Asn184LysfsTer8) c.549_550del (p.Asn183LysfsTer8) | gnomAD v4 |
| 6 | g.12295980C>A | CA362857258 | EDN1 | c.552C>A (p.Asn184Lys) c.549C>A (p.Asn183Lys) | |
| 6 | g.12295980C>G | CA362857259 | EDN1 | c.552C>G (p.Asn184Lys) c.549C>G (p.Asn183Lys) | |
| 6 | g.12295980C>T | CA448427941 | EDN1 | c.552C>T (p.Asn184=) c.549C>T (p.Asn183=) | |
| 6 | g.12295981A>C | CA362857260 | EDN1 | c.553A>C (p.Ser185Arg) c.550A>C (p.Ser184Arg) | |
| 6 | g.12295981A>G | CA362857261 | EDN1 | c.553A>G (p.Ser185Gly) c.550A>G (p.Ser184Gly) | |
| 6 | g.12295981A>T | CA362857262 | EDN1 | c.553A>T (p.Ser185Cys) c.550A>T (p.Ser184Cys) | |
| 6 | g.12295982G>A | CA362857263 | EDN1 | c.554G>A (p.Ser185Asn) c.551G>A (p.Ser184Asn) | |
| 6 | g.12295982G>C | CA362857264 | EDN1 | c.554G>C (p.Ser185Thr) c.551G>C (p.Ser184Thr) | |
| 6 | g.12295982G>T | CA362857265 | EDN1 | c.554G>T (p.Ser185Ile) c.551G>T (p.Ser184Ile) | |
| 6 | g.12295983C>A | CA362857266 | EDN1 | c.555C>A (p.Ser185Arg) c.552C>A (p.Ser184Arg) | gnomAD v4 |
| 6 | g.12295983C= | CA1610830877 | EDN1 | c.555C= (p.Ser185=) c.552C= (p.Ser184=) | |
| 6 | g.12295983C>G | CA362857267 | EDN1 | c.555C>G (p.Ser185Arg) c.552C>G (p.Ser184Arg) | |
| 6 | g.12295983C>T | CA134218069 | EDN1 | c.555C>T (p.Ser185=) c.552C>T (p.Ser184=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |