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.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 |
| 16 | g.16154736G>A | CA394884670 | ABCC6 | n.963C>T c.*272C>T (n.*272C>T) c.4100C>T (p.Ser1367Leu) c.914C>T (p.Ser305Leu) c.3725C>T (n.3725C>T) c.*1309C>T (n.*1309C>T) c.4067C>T (p.Ser1356Leu) c.3758C>T (p.Ser1253Leu) n.539-5045G>A n.3762C>T c.3932C>T (p.Ser1311Leu) c.4136C>T (p.Ser1379Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.16154736G>C | CA394884671 | ABCC6 | n.963C>G c.*272C>G (n.*272C>G) c.4100C>G (p.Ser1367Trp) c.914C>G (p.Ser305Trp) c.3725C>G (n.3725C>G) c.*1309C>G (n.*1309C>G) c.4067C>G (p.Ser1356Trp) c.3758C>G (p.Ser1253Trp) n.539-5045G>C n.3762C>G c.3932C>G (p.Ser1311Trp) c.4136C>G (p.Ser1379Trp) | |
| 16 | g.16154736G= | CA2210140569 | ABCC6 | n.963C= c.*272C= (n.*272C=) c.4100C= (p.Ser1367=) c.914C= (p.Ser305=) c.3725C= (n.3725C=) c.*1309C= (n.*1309C=) c.4067C= (p.Ser1356=) c.3758C= (p.Ser1253=) n.539-5045G= n.3762C= c.3932C= (p.Ser1311=) c.4136C= (p.Ser1379=) | |
| 16 | g.16154736G>T | CA394884673 | ABCC6 | n.963C>A c.*272C>A (n.*272C>A) c.4100C>A (p.Ser1367Ter) c.914C>A (p.Ser305Ter) c.3725C>A (n.3725C>A) c.*1309C>A (n.*1309C>A) c.4067C>A (p.Ser1356Ter) c.3758C>A (p.Ser1253Ter) n.539-5045G>T n.3762C>A c.3932C>A (p.Ser1311Ter) c.4136C>A (p.Ser1379Ter) | |
| 16 | g.16154737A>C | CA394884675 | ABCC6 | n.962T>G c.*271T>G (n.*271T>G) c.4099T>G (p.Ser1367Ala) c.913T>G (p.Ser305Ala) c.3724T>G (n.3724T>G) c.*1308T>G (n.*1308T>G) c.4066T>G (p.Ser1356Ala) c.3757T>G (p.Ser1253Ala) n.539-5044A>C n.3761T>G c.3931T>G (p.Ser1311Ala) c.4135T>G (p.Ser1379Ala) | |
| 16 | g.16154737A>G | CA394884676 | ABCC6 | n.962T>C c.*271T>C (n.*271T>C) c.4099T>C (p.Ser1367Pro) c.913T>C (p.Ser305Pro) c.3724T>C (n.3724T>C) c.*1308T>C (n.*1308T>C) c.4066T>C (p.Ser1356Pro) c.3757T>C (p.Ser1253Pro) n.539-5044A>G n.3761T>C c.3931T>C (p.Ser1311Pro) c.4135T>C (p.Ser1379Pro) | |
| 16 | g.16154737A>T | CA394884678 | ABCC6 | n.962T>A c.*271T>A (n.*271T>A) c.4099T>A (p.Ser1367Thr) c.913T>A (p.Ser305Thr) c.3724T>A (n.3724T>A) c.*1308T>A (n.*1308T>A) c.4066T>A (p.Ser1356Thr) c.3757T>A (p.Ser1253Thr) n.539-5044A>T n.3761T>A c.3931T>A (p.Ser1311Thr) c.4135T>A (p.Ser1379Thr) | |
| 16 | g.16154738G>A | CA493799698 | ABCC6 | n.961C>T c.*270C>T (n.*270C>T) c.4098C>T (p.His1366=) c.912C>T (p.His304=) c.3723C>T (n.3723C>T) c.*1307C>T (n.*1307C>T) c.4065C>T (p.His1355=) c.3756C>T (p.His1252=) n.539-5043G>A n.3760C>T c.3930C>T (p.His1310=) c.4134C>T (p.His1378=) | gnomAD v4 |
| 16 | g.16154738G>C | CA394884679 | ABCC6 | n.961C>G c.*270C>G (n.*270C>G) c.4098C>G (p.His1366Gln) c.912C>G (p.His304Gln) c.3723C>G (n.3723C>G) c.*1307C>G (n.*1307C>G) c.4065C>G (p.His1355Gln) c.3756C>G (p.His1252Gln) n.539-5043G>C n.3760C>G c.3930C>G (p.His1310Gln) c.4134C>G (p.His1378Gln) | gnomAD v4 |
| 16 | g.16154738G>T | CA394884680 | ABCC6 | n.961C>A c.*270C>A (n.*270C>A) c.4098C>A (p.His1366Gln) c.912C>A (p.His304Gln) c.3723C>A (n.3723C>A) c.*1307C>A (n.*1307C>A) c.4065C>A (p.His1355Gln) c.3756C>A (p.His1252Gln) n.539-5043G>T n.3760C>A c.3930C>A (p.His1310Gln) c.4134C>A (p.His1378Gln) | gnomAD v4 |
| 16 | g.16154739T>A | CA394884681 | ABCC6 | n.960A>T c.*269A>T (n.*269A>T) c.4097A>T (p.His1366Leu) c.911A>T (p.His304Leu) c.3722A>T (n.3722A>T) c.*1306A>T (n.*1306A>T) c.4064A>T (p.His1355Leu) c.3755A>T (p.His1252Leu) n.539-5042T>A n.3759A>T c.3929A>T (p.His1310Leu) c.4133A>T (p.His1378Leu) | |
| 16 | g.16154739T>C | CA394884682 | ABCC6 | n.960A>G c.*269A>G (n.*269A>G) c.4097A>G (p.His1366Arg) c.911A>G (p.His304Arg) c.3722A>G (n.3722A>G) c.*1306A>G (n.*1306A>G) c.4064A>G (p.His1355Arg) c.3755A>G (p.His1252Arg) n.539-5042T>C n.3759A>G c.3929A>G (p.His1310Arg) c.4133A>G (p.His1378Arg) | |
| 16 | g.16154739T>G | CA394884683 | ABCC6 | n.960A>C c.*269A>C (n.*269A>C) c.4097A>C (p.His1366Pro) c.911A>C (p.His304Pro) c.3722A>C (n.3722A>C) c.*1306A>C (n.*1306A>C) c.4064A>C (p.His1355Pro) c.3755A>C (p.His1252Pro) n.539-5042T>G n.3759A>C c.3929A>C (p.His1310Pro) c.4133A>C (p.His1378Pro) | |
| 16 | g.16154740G>A | CA394884684 | ABCC6 | n.959C>T c.*268C>T (n.*268C>T) c.4096C>T (p.His1366Tyr) c.910C>T (p.His304Tyr) c.3721C>T (n.3721C>T) c.*1305C>T (n.*1305C>T) c.4063C>T (p.His1355Tyr) c.3754C>T (p.His1252Tyr) n.539-5041G>A n.3758C>T c.3928C>T (p.His1310Tyr) c.4132C>T (p.His1378Tyr) | gnomAD v4 |
| 16 | g.16154740G>C | CA394884686 | ABCC6 | n.959C>G c.*268C>G (n.*268C>G) c.4096C>G (p.His1366Asp) c.910C>G (p.His304Asp) c.3721C>G (n.3721C>G) c.*1305C>G (n.*1305C>G) c.4063C>G (p.His1355Asp) c.3754C>G (p.His1252Asp) n.539-5041G>C n.3758C>G c.3928C>G (p.His1310Asp) c.4132C>G (p.His1378Asp) | |
| 16 | g.16154740G>T | CA394884685 | ABCC6 | n.959C>A c.*268C>A (n.*268C>A) c.4096C>A (p.His1366Asn) c.910C>A (p.His304Asn) c.3721C>A (n.3721C>A) c.*1305C>A (n.*1305C>A) c.4063C>A (p.His1355Asn) c.3754C>A (p.His1252Asn) n.539-5041G>T n.3758C>A c.3928C>A (p.His1310Asn) c.4132C>A (p.His1378Asn) | |
| 16 | g.16154741C>A | CA394884688 | ABCC6 | n.958G>T c.*267G>T (n.*267G>T) c.4095G>T (p.Glu1365Asp) c.909G>T (p.Glu303Asp) c.3720G>T (n.3720G>T) c.*1304G>T (n.*1304G>T) c.4062G>T (p.Glu1354Asp) c.3753G>T (p.Glu1251Asp) n.539-5040C>A n.3757G>T c.3927G>T (p.Glu1309Asp) c.4131G>T (p.Glu1377Asp) | |
| 16 | g.16154741C= | CA2210140574 | ABCC6 | n.958G= c.*267G= (n.*267G=) c.4095G= (p.Glu1365=) c.909G= (p.Glu303=) c.3720G= (n.3720G=) c.*1304G= (n.*1304G=) c.4062G= (p.Glu1354=) c.3753G= (p.Glu1251=) n.539-5040C= n.3757G= c.3927G= (p.Glu1309=) c.4131G= (p.Glu1377=) | |
| 16 | g.16154741C>G | CA394884690 | ABCC6 | n.958G>C c.*267G>C (n.*267G>C) c.4095G>C (p.Glu1365Asp) c.909G>C (p.Glu303Asp) c.3720G>C (n.3720G>C) c.*1304G>C (n.*1304G>C) c.4062G>C (p.Glu1354Asp) c.3753G>C (p.Glu1251Asp) n.539-5040C>G n.3757G>C c.3927G>C (p.Glu1309Asp) c.4131G>C (p.Glu1377Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.16154741C>T | CA7925314 | ABCC6 | n.958G>A c.*267G>A (n.*267G>A) c.4095G>A (p.Glu1365=) c.909G>A (p.Glu303=) c.3720G>A (n.3720G>A) c.*1304G>A (n.*1304G>A) c.4062G>A (p.Glu1354=) c.3753G>A (p.Glu1251=) n.539-5040C>T n.3757G>A c.3927G>A (p.Glu1309=) c.4131G>A (p.Glu1377=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154742T>A | CA394884692 | ABCC6 | n.957A>T c.*266A>T (n.*266A>T) c.4094A>T (p.Glu1365Val) c.908A>T (p.Glu303Val) c.3719A>T (n.3719A>T) c.*1303A>T (n.*1303A>T) c.4061A>T (p.Glu1354Val) c.3752A>T (p.Glu1251Val) n.539-5039T>A n.3756A>T c.3926A>T (p.Glu1309Val) c.4130A>T (p.Glu1377Val) | |
| 16 | g.16154742T>C | CA394884694 | ABCC6 | n.957A>G c.*266A>G (n.*266A>G) c.4094A>G (p.Glu1365Gly) c.908A>G (p.Glu303Gly) c.3719A>G (n.3719A>G) c.*1303A>G (n.*1303A>G) c.4061A>G (p.Glu1354Gly) c.3752A>G (p.Glu1251Gly) n.539-5039T>C n.3756A>G c.3926A>G (p.Glu1309Gly) c.4130A>G (p.Glu1377Gly) | |
| 16 | g.16154742T>G | CA394884695 | ABCC6 | n.957A>C c.*266A>C (n.*266A>C) c.4094A>C (p.Glu1365Ala) c.908A>C (p.Glu303Ala) c.3719A>C (n.3719A>C) c.*1303A>C (n.*1303A>C) c.4061A>C (p.Glu1354Ala) c.3752A>C (p.Glu1251Ala) n.539-5039T>G n.3756A>C c.3926A>C (p.Glu1309Ala) c.4130A>C (p.Glu1377Ala) | |
| 16 | g.16154743C>A | CA394884696 | ABCC6 | n.956G>T c.*265G>T (n.*265G>T) c.4093G>T (p.Glu1365Ter) c.907G>T (p.Glu303Ter) c.3718G>T (n.3718G>T) c.*1302G>T (n.*1302G>T) c.4060G>T (p.Glu1354Ter) c.3751G>T (p.Glu1251Ter) n.539-5038C>A n.3755G>T c.3925G>T (p.Glu1309Ter) c.4129G>T (p.Glu1377Ter) | |
| 16 | g.16154743C>G | CA394884697 | ABCC6 | n.956G>C c.*265G>C (n.*265G>C) c.4093G>C (p.Glu1365Gln) c.907G>C (p.Glu303Gln) c.3718G>C (n.3718G>C) c.*1302G>C (n.*1302G>C) c.4060G>C (p.Glu1354Gln) c.3751G>C (p.Glu1251Gln) n.539-5038C>G n.3755G>C c.3925G>C (p.Glu1309Gln) c.4129G>C (p.Glu1377Gln) | |
| 16 | g.16154743C>T | CA394884698 | ABCC6 | n.956G>A c.*265G>A (n.*265G>A) c.4093G>A (p.Glu1365Lys) c.907G>A (p.Glu303Lys) c.3718G>A (n.3718G>A) c.*1302G>A (n.*1302G>A) c.4060G>A (p.Glu1354Lys) c.3751G>A (p.Glu1251Lys) n.539-5038C>T n.3755G>A c.3925G>A (p.Glu1309Lys) c.4129G>A (p.Glu1377Lys) | gnomAD v4 |
| 16 | g.16154744del | CA2580090787 | ABCC6 | n.956del c.*265del (n.*265del) c.4093del (p.Glu1365SerfsTer?) c.907del (p.Glu303SerfsTer?) c.3718del (n.3718del) c.*1302del (n.*1302del) c.4060del (p.Glu1354SerfsTer?) c.3751del (p.Glu1251SerfsTer?) n.539-5037del n.3755del c.3925del (p.Glu1309SerfsTer?) c.4129del (p.Glu1377SerfsTer?) | ClinVar |