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 |
|---|---|---|---|---|---|
| 16 | g.16154724_16154727dup | CA2631958831 | ABCC6 | c.*283_*286dup (n.*283_*286dup) c.4111_4114dup (p.Trp1372TyrfsTer27) c.925_928dup (p.Trp310TyrfsTer27) c.3736_3739dup (n.3736_3739dup) n.974_977dup c.*1320_*1323dup (n.*1320_*1323dup) c.4078_4081dup (p.Trp1361TyrfsTer27) c.3769_3772dup (p.Trp1258TyrfsTer27) n.539-5057_539-5054dup n.3773_3776dup c.3943_3946dup (p.Trp1316TyrfsTer27) c.4147_4150dup (p.Trp1384TyrfsTer27) | gnomAD v4 |
| 16 | g.16154723G>A | CA493799691 | ABCC6 | c.*285C>T (n.*285C>T) c.4113C>T (p.Ile1371=) c.927C>T (p.Ile309=) c.3738C>T (n.3738C>T) n.976C>T c.*1322C>T (n.*1322C>T) c.4080C>T (p.Ile1360=) c.3771C>T (p.Ile1257=) n.539-5058G>A n.3775C>T c.3945C>T (p.Ile1315=) c.4149C>T (p.Ile1383=) | ClinVar gnomAD v4 |
| 16 | g.16154723G>C | CA394884621 | ABCC6 | c.*285C>G (n.*285C>G) c.4113C>G (p.Ile1371Met) c.927C>G (p.Ile309Met) c.3738C>G (n.3738C>G) n.976C>G c.*1322C>G (n.*1322C>G) c.4080C>G (p.Ile1360Met) c.3771C>G (p.Ile1257Met) n.539-5058G>C n.3775C>G c.3945C>G (p.Ile1315Met) c.4149C>G (p.Ile1383Met) | |
| 16 | g.16154723G>T | CA493799692 | ABCC6 | c.*285C>A (n.*285C>A) c.4113C>A (p.Ile1371=) c.927C>A (p.Ile309=) c.3738C>A (n.3738C>A) n.976C>A c.*1322C>A (n.*1322C>A) c.4080C>A (p.Ile1360=) c.3771C>A (p.Ile1257=) n.539-5058G>T n.3775C>A c.3945C>A (p.Ile1315=) c.4149C>A (p.Ile1383=) | |
| 16 | g.16154724A>C | CA394884623 | ABCC6 | c.*284T>G (n.*284T>G) c.4112T>G (p.Ile1371Ser) c.926T>G (p.Ile309Ser) c.3737T>G (n.3737T>G) n.975T>G c.*1321T>G (n.*1321T>G) c.4079T>G (p.Ile1360Ser) c.3770T>G (p.Ile1257Ser) n.539-5057A>C n.3774T>G c.3944T>G (p.Ile1315Ser) c.4148T>G (p.Ile1383Ser) | |
| 16 | g.16154724A>G | CA394884624 | ABCC6 | c.*284T>C (n.*284T>C) c.4112T>C (p.Ile1371Thr) c.926T>C (p.Ile309Thr) c.3737T>C (n.3737T>C) n.975T>C c.*1321T>C (n.*1321T>C) c.4079T>C (p.Ile1360Thr) c.3770T>C (p.Ile1257Thr) n.539-5057A>G n.3774T>C c.3944T>C (p.Ile1315Thr) c.4148T>C (p.Ile1383Thr) | |
| 16 | g.16154724A>T | CA394884626 | ABCC6 | c.*284T>A (n.*284T>A) c.4112T>A (p.Ile1371Asn) c.926T>A (p.Ile309Asn) c.3737T>A (n.3737T>A) n.975T>A c.*1321T>A (n.*1321T>A) c.4079T>A (p.Ile1360Asn) c.3770T>A (p.Ile1257Asn) n.539-5057A>T n.3774T>A c.3944T>A (p.Ile1315Asn) c.4148T>A (p.Ile1383Asn) | |
| 16 | g.16154725T>A | CA394884627 | ABCC6 | c.*283A>T (n.*283A>T) c.4111A>T (p.Ile1371Phe) c.925A>T (p.Ile309Phe) c.3736A>T (n.3736A>T) n.974A>T c.*1320A>T (n.*1320A>T) c.4078A>T (p.Ile1360Phe) c.3769A>T (p.Ile1257Phe) n.539-5056T>A n.3773A>T c.3943A>T (p.Ile1315Phe) c.4147A>T (p.Ile1383Phe) | |
| 16 | g.16154725T>C | CA394884629 | ABCC6 | c.*283A>G (n.*283A>G) c.4111A>G (p.Ile1371Val) c.925A>G (p.Ile309Val) c.3736A>G (n.3736A>G) n.974A>G c.*1320A>G (n.*1320A>G) c.4078A>G (p.Ile1360Val) c.3769A>G (p.Ile1257Val) n.539-5056T>C n.3773A>G c.3943A>G (p.Ile1315Val) c.4147A>G (p.Ile1383Val) | dbSNP |
| 16 | g.16154725T>G | CA394884630 | ABCC6 | c.*283A>C (n.*283A>C) c.4111A>C (p.Ile1371Leu) c.925A>C (p.Ile309Leu) c.3736A>C (n.3736A>C) n.974A>C c.*1320A>C (n.*1320A>C) c.4078A>C (p.Ile1360Leu) c.3769A>C (p.Ile1257Leu) n.539-5056T>G n.3773A>C c.3943A>C (p.Ile1315Leu) c.4147A>C (p.Ile1383Leu) | |
| 16 | g.16154725T= | CA2210140537 | ABCC6 | c.*283A= (n.*283A=) c.4111A= (p.Ile1371=) c.925A= (p.Ile309=) c.3736A= (n.3736A=) n.974A= c.*1320A= (n.*1320A=) c.4078A= (p.Ile1360=) c.3769A= (p.Ile1257=) n.539-5056T= n.3773A= c.3943A= (p.Ile1315=) c.4147A= (p.Ile1383=) | |
| 16 | g.16154726A= | CA2210140539 | ABCC6 | c.*282T= (n.*282T=) c.4110T= (p.Ala1370=) c.924T= (p.Ala308=) c.3735T= (n.3735T=) n.973T= c.*1319T= (n.*1319T=) c.4077T= (p.Ala1359=) c.3768T= (p.Ala1256=) n.539-5055A= n.3772T= c.3942T= (p.Ala1314=) c.4146T= (p.Ala1382=) | |
| 16 | g.16154726A>C | CA493799693 | ABCC6 | c.*282T>G (n.*282T>G) c.4110T>G (p.Ala1370=) c.924T>G (p.Ala308=) c.3735T>G (n.3735T>G) n.973T>G c.*1319T>G (n.*1319T>G) c.4077T>G (p.Ala1359=) c.3768T>G (p.Ala1256=) n.539-5055A>C n.3772T>G c.3942T>G (p.Ala1314=) c.4146T>G (p.Ala1382=) | |
| 16 | g.16154726A>G | CA493799694 | ABCC6 | c.*282T>C (n.*282T>C) c.4110T>C (p.Ala1370=) c.924T>C (p.Ala308=) c.3735T>C (n.3735T>C) n.973T>C c.*1319T>C (n.*1319T>C) c.4077T>C (p.Ala1359=) c.3768T>C (p.Ala1256=) n.539-5055A>G n.3772T>C c.3942T>C (p.Ala1314=) c.4146T>C (p.Ala1382=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.16154726A>T | CA493799695 | ABCC6 | c.*282T>A (n.*282T>A) c.4110T>A (p.Ala1370=) c.924T>A (p.Ala308=) c.3735T>A (n.3735T>A) n.973T>A c.*1319T>A (n.*1319T>A) c.4077T>A (p.Ala1359=) c.3768T>A (p.Ala1256=) n.539-5055A>T n.3772T>A c.3942T>A (p.Ala1314=) c.4146T>A (p.Ala1382=) | |
| 16 | g.16154727G>A | CA394884632 | ABCC6 | c.*281C>T (n.*281C>T) c.4109C>T (p.Ala1370Val) c.923C>T (p.Ala308Val) c.3734C>T (n.3734C>T) n.972C>T c.*1318C>T (n.*1318C>T) c.4076C>T (p.Ala1359Val) c.3767C>T (p.Ala1256Val) n.539-5054G>A n.3771C>T c.3941C>T (p.Ala1314Val) c.4145C>T (p.Ala1382Val) | gnomAD v4 |
| 16 | g.16154727G>C | CA394884633 | ABCC6 | c.*281C>G (n.*281C>G) c.4109C>G (p.Ala1370Gly) c.923C>G (p.Ala308Gly) c.3734C>G (n.3734C>G) n.972C>G c.*1318C>G (n.*1318C>G) c.4076C>G (p.Ala1359Gly) c.3767C>G (p.Ala1256Gly) n.539-5054G>C n.3771C>G c.3941C>G (p.Ala1314Gly) c.4145C>G (p.Ala1382Gly) | |
| 16 | g.16154727G= | CA2210140540 | ABCC6 | c.*281C= (n.*281C=) c.4109C= (p.Ala1370=) c.923C= (p.Ala308=) c.3734C= (n.3734C=) n.972C= c.*1318C= (n.*1318C=) c.4076C= (p.Ala1359=) c.3767C= (p.Ala1256=) n.539-5054G= n.3771C= c.3941C= (p.Ala1314=) c.4145C= (p.Ala1382=) | |
| 16 | g.16154727G>T | CA394884635 | ABCC6 | c.*281C>A (n.*281C>A) c.4109C>A (p.Ala1370Asp) c.923C>A (p.Ala308Asp) c.3734C>A (n.3734C>A) n.972C>A c.*1318C>A (n.*1318C>A) c.4076C>A (p.Ala1359Asp) c.3767C>A (p.Ala1256Asp) n.539-5054G>T n.3771C>A c.3941C>A (p.Ala1314Asp) c.4145C>A (p.Ala1382Asp) | dbSNP gnomAD v4 |
| 16 | g.16154728C>A | CA394884636 | ABCC6 | c.*280G>T (n.*280G>T) c.4108G>T (p.Ala1370Ser) c.922G>T (p.Ala308Ser) c.3733G>T (n.3733G>T) n.971G>T c.*1317G>T (n.*1317G>T) c.4075G>T (p.Ala1359Ser) c.3766G>T (p.Ala1256Ser) n.539-5053C>A n.3770G>T c.3940G>T (p.Ala1314Ser) c.4144G>T (p.Ala1382Ser) | |
| 16 | g.16154728C= | CA2210140543 | ABCC6 | c.*280G= (n.*280G=) c.4108G= (p.Ala1370=) c.922G= (p.Ala308=) c.3733G= (n.3733G=) n.971G= c.*1317G= (n.*1317G=) c.4075G= (p.Ala1359=) c.3766G= (p.Ala1256=) n.539-5053C= n.3770G= c.3940G= (p.Ala1314=) c.4144G= (p.Ala1382=) | |
| 16 | g.16154728C>G | CA394884638 | ABCC6 | c.*280G>C (n.*280G>C) c.4108G>C (p.Ala1370Pro) c.922G>C (p.Ala308Pro) c.3733G>C (n.3733G>C) n.971G>C c.*1317G>C (n.*1317G>C) c.4075G>C (p.Ala1359Pro) c.3766G>C (p.Ala1256Pro) n.539-5053C>G n.3770G>C c.3940G>C (p.Ala1314Pro) c.4144G>C (p.Ala1382Pro) | |
| 16 | g.16154728C>T | CA7925309 | ABCC6 | c.*280G>A (n.*280G>A) c.4108G>A (p.Ala1370Thr) c.922G>A (p.Ala308Thr) c.3733G>A (n.3733G>A) n.971G>A c.*1317G>A (n.*1317G>A) c.4075G>A (p.Ala1359Thr) c.3766G>A (p.Ala1256Thr) n.539-5053C>T n.3770G>A c.3940G>A (p.Ala1314Thr) c.4144G>A (p.Ala1382Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.16154729C>A | CA394884643 | ABCC6 | c.*279G>T (n.*279G>T) c.4107G>T (p.Glu1369Asp) c.921G>T (p.Glu307Asp) c.3732G>T (n.3732G>T) n.970G>T c.*1316G>T (n.*1316G>T) c.4074G>T (p.Glu1358Asp) c.3765G>T (p.Glu1255Asp) n.539-5052C>A n.3769G>T c.3939G>T (p.Glu1313Asp) c.4143G>T (p.Glu1381Asp) | |
| 16 | g.16154729C= | CA2210140547 | ABCC6 | c.*279G= (n.*279G=) c.4107G= (p.Glu1369=) c.921G= (p.Glu307=) c.3732G= (n.3732G=) n.970G= c.*1316G= (n.*1316G=) c.4074G= (p.Glu1358=) c.3765G= (p.Glu1255=) n.539-5052C= n.3769G= c.3939G= (p.Glu1313=) c.4143G= (p.Glu1381=) | |
| 16 | g.16154729C>G | CA394884641 | ABCC6 | c.*279G>C (n.*279G>C) c.4107G>C (p.Glu1369Asp) c.921G>C (p.Glu307Asp) c.3732G>C (n.3732G>C) n.970G>C c.*1316G>C (n.*1316G>C) c.4074G>C (p.Glu1358Asp) c.3765G>C (p.Glu1255Asp) n.539-5052C>G n.3769G>C c.3939G>C (p.Glu1313Asp) c.4143G>C (p.Glu1381Asp) | |
| 16 | g.16154729C>T | CA278676808 | ABCC6 | c.*279G>A (n.*279G>A) c.4107G>A (p.Glu1369=) c.921G>A (p.Glu307=) c.3732G>A (n.3732G>A) n.970G>A c.*1316G>A (n.*1316G>A) c.4074G>A (p.Glu1358=) c.3765G>A (p.Glu1255=) n.539-5052C>T n.3769G>A c.3939G>A (p.Glu1313=) c.4143G>A (p.Glu1381=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.16154730T>A | CA394884645 | ABCC6 | n.969A>T c.*278A>T (n.*278A>T) c.4106A>T (p.Glu1369Val) c.920A>T (p.Glu307Val) c.3731A>T (n.3731A>T) c.*1315A>T (n.*1315A>T) c.4073A>T (p.Glu1358Val) c.3764A>T (p.Glu1255Val) n.539-5051T>A n.3768A>T c.3938A>T (p.Glu1313Val) c.4142A>T (p.Glu1381Val) | |
| 16 | g.16154730T>C | CA394884646 | ABCC6 | n.969A>G c.*278A>G (n.*278A>G) c.4106A>G (p.Glu1369Gly) c.920A>G (p.Glu307Gly) c.3731A>G (n.3731A>G) c.*1315A>G (n.*1315A>G) c.4073A>G (p.Glu1358Gly) c.3764A>G (p.Glu1255Gly) n.539-5051T>C n.3768A>G c.3938A>G (p.Glu1313Gly) c.4142A>G (p.Glu1381Gly) | |
| 16 | g.16154730T>G | CA394884648 | ABCC6 | n.969A>C c.*278A>C (n.*278A>C) c.4106A>C (p.Glu1369Ala) c.920A>C (p.Glu307Ala) c.3731A>C (n.3731A>C) c.*1315A>C (n.*1315A>C) c.4073A>C (p.Glu1358Ala) c.3764A>C (p.Glu1255Ala) n.539-5051T>G n.3768A>C c.3938A>C (p.Glu1313Ala) c.4142A>C (p.Glu1381Ala) | |
| 16 | g.16154731C>A | CA394884649 | ABCC6 | n.968G>T c.*277G>T (n.*277G>T) c.4105G>T (p.Glu1369Ter) c.919G>T (p.Glu307Ter) c.3730G>T (n.3730G>T) c.*1314G>T (n.*1314G>T) c.4072G>T (p.Glu1358Ter) c.3763G>T (p.Glu1255Ter) n.539-5050C>A n.3767G>T c.3937G>T (p.Glu1313Ter) c.4141G>T (p.Glu1381Ter) | |
| 16 | g.16154731C= | CA2210140550 | ABCC6 | n.968G= c.*277G= (n.*277G=) c.4105G= (p.Glu1369=) c.919G= (p.Glu307=) c.3730G= (n.3730G=) c.*1314G= (n.*1314G=) c.4072G= (p.Glu1358=) c.3763G= (p.Glu1255=) n.539-5050C= n.3767G= c.3937G= (p.Glu1313=) c.4141G= (p.Glu1381=) | |
| 16 | g.16154731C>G | CA394884651 | ABCC6 | n.968G>C c.*277G>C (n.*277G>C) c.4105G>C (p.Glu1369Gln) c.919G>C (p.Glu307Gln) c.3730G>C (n.3730G>C) c.*1314G>C (n.*1314G>C) c.4072G>C (p.Glu1358Gln) c.3763G>C (p.Glu1255Gln) n.539-5050C>G n.3767G>C c.3937G>C (p.Glu1313Gln) c.4141G>C (p.Glu1381Gln) | gnomAD v4 |
| 16 | g.16154731C>T | CA7925310 | ABCC6 | n.968G>A c.*277G>A (n.*277G>A) c.4105G>A (p.Glu1369Lys) c.919G>A (p.Glu307Lys) c.3730G>A (n.3730G>A) c.*1314G>A (n.*1314G>A) c.4072G>A (p.Glu1358Lys) c.3763G>A (p.Glu1255Lys) n.539-5050C>T n.3767G>A c.3937G>A (p.Glu1313Lys) c.4141G>A (p.Glu1381Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154731_16154732delinsCG | CA2210140554 | ABCC6 | n.967_968delinsCG c.*276_*277delinsCG (n.*276_*277delinsCG) c.4104_4105delinsCG (p.Asp1368=) c.918_919delinsCG (p.Asp306=) c.3729_3730delinsCG (n.3729_3730delinsCG) c.*1313_*1314delinsCG (n.*1313_*1314delinsCG) c.4071_4072delinsCG (p.Asp1357=) c.3762_3763delinsCG (p.Asp1254=) n.539-5050_539-5049delinsCG n.3766_3767delinsCG c.3936_3937delinsCG (p.Asp1312=) c.4140_4141delinsCG (p.Asp1380=) | |
| 16 | g.16154732del | CA278676811 | ABCC6 | n.967del c.*276del (n.*276del) c.4104del (p.Asp1368GlufsTer?) c.918del (p.Asp306GlufsTer?) c.3729del (n.3729del) c.*1313del (n.*1313del) c.4071del (p.Asp1357GlufsTer?) c.3762del (p.Asp1254GlufsTer?) n.539-5049del n.3766del c.3936del (p.Asp1312GlufsTer?) c.4140del (p.Asp1380GlufsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154732G>A | CA7925311 | ABCC6 | n.967C>T c.*276C>T (n.*276C>T) c.4104C>T (p.Asp1368=) c.918C>T (p.Asp306=) c.3729C>T (n.3729C>T) c.*1313C>T (n.*1313C>T) c.4071C>T (p.Asp1357=) c.3762C>T (p.Asp1254=) n.539-5049G>A n.3766C>T c.3936C>T (p.Asp1312=) c.4140C>T (p.Asp1380=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154732G>C | CA394884654 | ABCC6 | n.967C>G c.*276C>G (n.*276C>G) c.4104C>G (p.Asp1368Glu) c.918C>G (p.Asp306Glu) c.3729C>G (n.3729C>G) c.*1313C>G (n.*1313C>G) c.4071C>G (p.Asp1357Glu) c.3762C>G (p.Asp1254Glu) n.539-5049G>C n.3766C>G c.3936C>G (p.Asp1312Glu) c.4140C>G (p.Asp1380Glu) | |
| 16 | g.16154732G= | CA2210140562 | ABCC6 | n.967C= c.*276C= (n.*276C=) c.4104C= (p.Asp1368=) c.918C= (p.Asp306=) c.3729C= (n.3729C=) c.*1313C= (n.*1313C=) c.4071C= (p.Asp1357=) c.3762C= (p.Asp1254=) n.539-5049G= n.3766C= c.3936C= (p.Asp1312=) c.4140C= (p.Asp1380=) | |
| 16 | g.16154732G>T | CA278676813 | ABCC6 | n.967C>A c.*276C>A (n.*276C>A) c.4104C>A (p.Asp1368Glu) c.918C>A (p.Asp306Glu) c.3729C>A (n.3729C>A) c.*1313C>A (n.*1313C>A) c.4071C>A (p.Asp1357Glu) c.3762C>A (p.Asp1254Glu) n.539-5049G>T n.3766C>A c.3936C>A (p.Asp1312Glu) c.4140C>A (p.Asp1380Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.16154733T>A | CA394884660 | ABCC6 | n.966A>T c.*275A>T (n.*275A>T) c.4103A>T (p.Asp1368Val) c.917A>T (p.Asp306Val) c.3728A>T (n.3728A>T) c.*1312A>T (n.*1312A>T) c.4070A>T (p.Asp1357Val) c.3761A>T (p.Asp1254Val) n.539-5048T>A n.3765A>T c.3935A>T (p.Asp1312Val) c.4139A>T (p.Asp1380Val) | |
| 16 | g.16154733T>C | CA394884662 | ABCC6 | n.966A>G c.*275A>G (n.*275A>G) c.4103A>G (p.Asp1368Gly) c.917A>G (p.Asp306Gly) c.3728A>G (n.3728A>G) c.*1312A>G (n.*1312A>G) c.4070A>G (p.Asp1357Gly) c.3761A>G (p.Asp1254Gly) n.539-5048T>C n.3765A>G c.3935A>G (p.Asp1312Gly) c.4139A>G (p.Asp1380Gly) | |
| 16 | g.16154733T>G | CA394884663 | ABCC6 | n.966A>C c.*275A>C (n.*275A>C) c.4103A>C (p.Asp1368Ala) c.917A>C (p.Asp306Ala) c.3728A>C (n.3728A>C) c.*1312A>C (n.*1312A>C) c.4070A>C (p.Asp1357Ala) c.3761A>C (p.Asp1254Ala) n.539-5048T>G n.3765A>C c.3935A>C (p.Asp1312Ala) c.4139A>C (p.Asp1380Ala) | |
| 16 | g.16154734C>A | CA394884666 | ABCC6 | n.965G>T c.*274G>T (n.*274G>T) c.4102G>T (p.Asp1368Tyr) c.916G>T (p.Asp306Tyr) c.3727G>T (n.3727G>T) c.*1311G>T (n.*1311G>T) c.4069G>T (p.Asp1357Tyr) c.3760G>T (p.Asp1254Tyr) n.539-5047C>A n.3764G>T c.3934G>T (p.Asp1312Tyr) c.4138G>T (p.Asp1380Tyr) | |
| 16 | g.16154734C>G | CA394884668 | ABCC6 | n.965G>C c.*274G>C (n.*274G>C) c.4102G>C (p.Asp1368His) c.916G>C (p.Asp306His) c.3727G>C (n.3727G>C) c.*1311G>C (n.*1311G>C) c.4069G>C (p.Asp1357His) c.3760G>C (p.Asp1254His) n.539-5047C>G n.3764G>C c.3934G>C (p.Asp1312His) c.4138G>C (p.Asp1380His) | |
| 16 | g.16154734C>T | CA394884665 | ABCC6 | n.965G>A c.*274G>A (n.*274G>A) c.4102G>A (p.Asp1368Asn) c.916G>A (p.Asp306Asn) c.3727G>A (n.3727G>A) c.*1311G>A (n.*1311G>A) c.4069G>A (p.Asp1357Asn) c.3760G>A (p.Asp1254Asn) n.539-5047C>T n.3764G>A c.3934G>A (p.Asp1312Asn) c.4138G>A (p.Asp1380Asn) | COSMIC |
| 16 | g.16154735C>A | CA493799697 | ABCC6 | n.964G>T c.*273G>T (n.*273G>T) c.4101G>T (p.Ser1367=) c.915G>T (p.Ser305=) c.3726G>T (n.3726G>T) c.*1310G>T (n.*1310G>T) c.4068G>T (p.Ser1356=) c.3759G>T (p.Ser1253=) n.539-5046C>A n.3763G>T c.3933G>T (p.Ser1311=) c.4137G>T (p.Ser1379=) | gnomAD v4 |
| 16 | g.16154735C= | CA2210140565 | ABCC6 | n.964G= c.*273G= (n.*273G=) c.4101G= (p.Ser1367=) c.915G= (p.Ser305=) c.3726G= (n.3726G=) c.*1310G= (n.*1310G=) c.4068G= (p.Ser1356=) c.3759G= (p.Ser1253=) n.539-5046C= n.3763G= c.3933G= (p.Ser1311=) c.4137G= (p.Ser1379=) | |
| 16 | g.16154735C>G | CA7925313 | ABCC6 | n.964G>C c.*273G>C (n.*273G>C) c.4101G>C (p.Ser1367=) c.915G>C (p.Ser305=) c.3726G>C (n.3726G>C) c.*1310G>C (n.*1310G>C) c.4068G>C (p.Ser1356=) c.3759G>C (p.Ser1253=) n.539-5046C>G n.3763G>C c.3933G>C (p.Ser1311=) c.4137G>C (p.Ser1379=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154735C>T | CA7925312 | ABCC6 | n.964G>A c.*273G>A (n.*273G>A) c.4101G>A (p.Ser1367=) c.915G>A (p.Ser305=) c.3726G>A (n.3726G>A) c.*1310G>A (n.*1310G>A) c.4068G>A (p.Ser1356=) c.3759G>A (p.Ser1253=) n.539-5046C>T n.3763G>A c.3933G>A (p.Ser1311=) c.4137G>A (p.Ser1379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |