| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16154911_16154912del | CA2806037989 | ABCC6 | n.865_866del c.*174_*175del (n.*174_*175del) c.4002_4003del (p.Leu1335AlafsTer?) c.816_817del (p.Leu273AlafsTer?) c.3627_3628del (n.3627_3628del) c.*1211_*1212del (n.*1211_*1212del) c.3969_3970del (p.Leu1324AlafsTer?) c.3660_3661del (p.Leu1221AlafsTer?) n.539-4870_539-4869del n.3664_3665del c.3834_3835del (p.Leu1279AlafsTer?) c.4038_4039del (p.Leu1347AlafsTer?) | |
| 16 | g.16154912C>A | CA278625392 | ABCC6 | n.865G>T c.*174G>T (n.*174G>T) c.4002G>T (p.Gly1334=) c.816G>T (p.Gly272=) c.3627G>T (n.3627G>T) c.*1211G>T (n.*1211G>T) c.3969G>T (p.Gly1323=) c.3660G>T (p.Gly1220=) n.539-4869C>A n.3664G>T c.3834G>T (p.Gly1278=) c.4038G>T (p.Gly1346=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154912C= | CA2210140904 | ABCC6 | n.865G= c.*174G= (n.*174G=) c.4002G= (p.Gly1334=) c.816G= (p.Gly272=) c.3627G= (n.3627G=) c.*1211G= (n.*1211G=) c.3969G= (p.Gly1323=) c.3660G= (p.Gly1220=) n.539-4869C= n.3664G= c.3834G= (p.Gly1278=) c.4038G= (p.Gly1346=) | |
| 16 | g.16154912C>G | CA7925353 | ABCC6 | n.865G>C c.*174G>C (n.*174G>C) c.4002G>C (p.Gly1334=) c.816G>C (p.Gly272=) c.3627G>C (n.3627G>C) c.*1211G>C (n.*1211G>C) c.3969G>C (p.Gly1323=) c.3660G>C (p.Gly1220=) n.539-4869C>G n.3664G>C c.3834G>C (p.Gly1278=) c.4038G>C (p.Gly1346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154912C>T | CA493797205 | ABCC6 | n.865G>A c.*174G>A (n.*174G>A) c.4002G>A (p.Gly1334=) c.816G>A (p.Gly272=) c.3627G>A (n.3627G>A) c.*1211G>A (n.*1211G>A) c.3969G>A (p.Gly1323=) c.3660G>A (p.Gly1220=) n.539-4869C>T n.3664G>A c.3834G>A (p.Gly1278=) c.4038G>A (p.Gly1346=) | dbSNP |
| 16 | g.16154915del | CA2999627039 | ABCC6 | n.865del c.*174del (n.*174del) c.4002del (p.Leu1335CysfsTer24) c.816del (p.Leu273CysfsTer24) c.3627del (n.3627del) c.*1211del (n.*1211del) c.3969del (p.Leu1324CysfsTer24) c.3660del (p.Leu1221CysfsTer24) n.539-4866del n.3664del c.3834del (p.Leu1279CysfsTer24) c.4038del (p.Leu1347CysfsTer24) | |
| 16 | g.16154913C>A | CA394875562 | ABCC6 | n.864G>T c.*173G>T (n.*173G>T) c.4001G>T (p.Gly1334Val) c.815G>T (p.Gly272Val) c.3626G>T (n.3626G>T) c.*1210G>T (n.*1210G>T) c.3968G>T (p.Gly1323Val) c.3659G>T (p.Gly1220Val) n.539-4868C>A n.3663G>T c.3833G>T (p.Gly1278Val) c.4037G>T (p.Gly1346Val) | |
| 16 | g.16154913C>G | CA394875564 | ABCC6 | n.864G>C c.*173G>C (n.*173G>C) c.4001G>C (p.Gly1334Ala) c.815G>C (p.Gly272Ala) c.3626G>C (n.3626G>C) c.*1210G>C (n.*1210G>C) c.3968G>C (p.Gly1323Ala) c.3659G>C (p.Gly1220Ala) n.539-4868C>G n.3663G>C c.3833G>C (p.Gly1278Ala) c.4037G>C (p.Gly1346Ala) | |
| 16 | g.16154913C>T | CA394875566 | ABCC6 | n.864G>A c.*173G>A (n.*173G>A) c.4001G>A (p.Gly1334Glu) c.815G>A (p.Gly272Glu) c.3626G>A (n.3626G>A) c.*1210G>A (n.*1210G>A) c.3968G>A (p.Gly1323Glu) c.3659G>A (p.Gly1220Glu) n.539-4868C>T n.3663G>A c.3833G>A (p.Gly1278Glu) c.4037G>A (p.Gly1346Glu) | |
| 16 | g.16154914C>A | CA394875570 | ABCC6 | n.863G>T c.*172G>T (n.*172G>T) c.4000G>T (p.Gly1334Trp) c.814G>T (p.Gly272Trp) c.3625G>T (n.3625G>T) c.*1209G>T (n.*1209G>T) c.3967G>T (p.Gly1323Trp) c.3658G>T (p.Gly1220Trp) n.539-4867C>A n.3662G>T c.3832G>T (p.Gly1278Trp) c.4036G>T (p.Gly1346Trp) | |
| 16 | g.16154914C>G | CA394875571 | ABCC6 | n.863G>C c.*172G>C (n.*172G>C) c.4000G>C (p.Gly1334Arg) c.814G>C (p.Gly272Arg) c.3625G>C (n.3625G>C) c.*1209G>C (n.*1209G>C) c.3967G>C (p.Gly1323Arg) c.3658G>C (p.Gly1220Arg) n.539-4867C>G n.3662G>C c.3832G>C (p.Gly1278Arg) c.4036G>C (p.Gly1346Arg) | |
| 16 | g.16154914C>T | CA394875572 | ABCC6 | n.863G>A c.*172G>A (n.*172G>A) c.4000G>A (p.Gly1334Arg) c.814G>A (p.Gly272Arg) c.3625G>A (n.3625G>A) c.*1209G>A (n.*1209G>A) c.3967G>A (p.Gly1323Arg) c.3658G>A (p.Gly1220Arg) n.539-4867C>T n.3662G>A c.3832G>A (p.Gly1278Arg) c.4036G>A (p.Gly1346Arg) | |
| 16 | g.16154915C>A | CA493797207 | ABCC6 | n.862G>T c.*171G>T (n.*171G>T) c.3999G>T (p.Val1333=) c.813G>T (p.Val271=) c.3624G>T (n.3624G>T) c.*1208G>T (n.*1208G>T) c.3966G>T (p.Val1322=) c.3657G>T (p.Val1219=) n.539-4866C>A n.3661G>T c.3831G>T (p.Val1277=) c.4035G>T (p.Val1345=) | |
| 16 | g.16154915C= | CA2210140911 | ABCC6 | n.862G= c.*171G= (n.*171G=) c.3999G= (p.Val1333=) c.813G= (p.Val271=) c.3624G= (n.3624G=) c.*1208G= (n.*1208G=) c.3966G= (p.Val1322=) c.3657G= (p.Val1219=) n.539-4866C= n.3661G= c.3831G= (p.Val1277=) c.4035G= (p.Val1345=) | |
| 16 | g.16154915C>G | CA493797208 | ABCC6 | n.862G>C c.*171G>C (n.*171G>C) c.3999G>C (p.Val1333=) c.813G>C (p.Val271=) c.3624G>C (n.3624G>C) c.*1208G>C (n.*1208G>C) c.3966G>C (p.Val1322=) c.3657G>C (p.Val1219=) n.539-4866C>G n.3661G>C c.3831G>C (p.Val1277=) c.4035G>C (p.Val1345=) | |
| 16 | g.16154915C>T | CA7925354 | ABCC6 | n.862G>A c.*171G>A (n.*171G>A) c.3999G>A (p.Val1333=) c.813G>A (p.Val271=) c.3624G>A (n.3624G>A) c.*1208G>A (n.*1208G>A) c.3966G>A (p.Val1322=) c.3657G>A (p.Val1219=) n.539-4866C>T n.3661G>A c.3831G>A (p.Val1277=) c.4035G>A (p.Val1345=) | ClinVar dbSNP ExAC gnomAD v4 |
| 16 | g.16154916A>C | CA394875574 | ABCC6 | n.861T>G c.*170T>G (n.*170T>G) c.3998T>G (p.Val1333Gly) c.812T>G (p.Val271Gly) c.3623T>G (n.3623T>G) c.*1207T>G (n.*1207T>G) c.3965T>G (p.Val1322Gly) c.3656T>G (p.Val1219Gly) n.539-4865A>C n.3660T>G c.3830T>G (p.Val1277Gly) c.4034T>G (p.Val1345Gly) | |
| 16 | g.16154916A>G | CA394875576 | ABCC6 | n.861T>C c.*170T>C (n.*170T>C) c.3998T>C (p.Val1333Ala) c.812T>C (p.Val271Ala) c.3623T>C (n.3623T>C) c.*1207T>C (n.*1207T>C) c.3965T>C (p.Val1322Ala) c.3656T>C (p.Val1219Ala) n.539-4865A>G n.3660T>C c.3830T>C (p.Val1277Ala) c.4034T>C (p.Val1345Ala) | |
| 16 | g.16154916A>T | CA394875577 | ABCC6 | n.861T>A c.*170T>A (n.*170T>A) c.3998T>A (p.Val1333Glu) c.812T>A (p.Val271Glu) c.3623T>A (n.3623T>A) c.*1207T>A (n.*1207T>A) c.3965T>A (p.Val1322Glu) c.3656T>A (p.Val1219Glu) n.539-4865A>T n.3660T>A c.3830T>A (p.Val1277Glu) c.4034T>A (p.Val1345Glu) | gnomAD v4 |
| 16 | g.16154917C>A | CA394875580 | ABCC6 | n.860G>T c.*169G>T (n.*169G>T) c.3997G>T (p.Val1333Leu) c.811G>T (p.Val271Leu) c.3622G>T (n.3622G>T) c.*1206G>T (n.*1206G>T) c.3964G>T (p.Val1322Leu) c.3655G>T (p.Val1219Leu) n.539-4864C>A n.3659G>T c.3829G>T (p.Val1277Leu) c.4033G>T (p.Val1345Leu) | gnomAD v4 |
| 16 | g.16154917C= | CA2210140914 | ABCC6 | n.860G= c.*169G= (n.*169G=) c.3997G= (p.Val1333=) c.811G= (p.Val271=) c.3622G= (n.3622G=) c.*1206G= (n.*1206G=) c.3964G= (p.Val1322=) c.3655G= (p.Val1219=) n.539-4864C= n.3659G= c.3829G= (p.Val1277=) c.4033G= (p.Val1345=) | |
| 16 | g.16154917C>G | CA7925356 | ABCC6 | n.860G>C c.*169G>C (n.*169G>C) c.3997G>C (p.Val1333Leu) c.811G>C (p.Val271Leu) c.3622G>C (n.3622G>C) c.*1206G>C (n.*1206G>C) c.3964G>C (p.Val1322Leu) c.3655G>C (p.Val1219Leu) n.539-4864C>G n.3659G>C c.3829G>C (p.Val1277Leu) c.4033G>C (p.Val1345Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154917C>T | CA7925355 | ABCC6 | n.860G>A c.*169G>A (n.*169G>A) c.3997G>A (p.Val1333Met) c.811G>A (p.Val271Met) c.3622G>A (n.3622G>A) c.*1206G>A (n.*1206G>A) c.3964G>A (p.Val1322Met) c.3655G>A (p.Val1219Met) n.539-4864C>T n.3659G>A c.3829G>A (p.Val1277Met) c.4033G>A (p.Val1345Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154917_16154918insATGA | CA3046160292 | ABCC6 | n.859_860insTCAT c.*168_*169insTCAT (n.*168_*169insTCAT) c.3996_3997insTCAT (p.Val1333SerfsTer?) c.810_811insTCAT (p.Val271SerfsTer?) c.3621_3622insTCAT (n.3621_3622insTCAT) c.*1205_*1206insTCAT (n.*1205_*1206insTCAT) c.3963_3964insTCAT (p.Val1322SerfsTer?) c.3654_3655insTCAT (p.Val1219SerfsTer?) n.539-4864_539-4863insATGA n.3658_3659insTCAT c.3828_3829insTCAT (p.Val1277SerfsTer?) c.4032_4033insTCAT (p.Val1345SerfsTer?) | |
| 16 | g.16154918G>A | CA278625416 | ABCC6 | n.859C>T c.*168C>T (n.*168C>T) c.3996C>T (p.His1332=) c.810C>T (p.His270=) c.3621C>T (n.3621C>T) c.*1205C>T (n.*1205C>T) c.3963C>T (p.His1321=) c.3654C>T (p.His1218=) n.539-4863G>A n.3658C>T c.3828C>T (p.His1276=) c.4032C>T (p.His1344=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154918G>C | CA7925357 | ABCC6 | n.859C>G c.*168C>G (n.*168C>G) c.3996C>G (p.His1332Gln) c.810C>G (p.His270Gln) c.3621C>G (n.3621C>G) c.*1205C>G (n.*1205C>G) c.3963C>G (p.His1321Gln) c.3654C>G (p.His1218Gln) n.539-4863G>C n.3658C>G c.3828C>G (p.His1276Gln) c.4032C>G (p.His1344Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154918G= | CA2210140918 | ABCC6 | n.859C= c.*168C= (n.*168C=) c.3996C= (p.His1332=) c.810C= (p.His270=) c.3621C= (n.3621C=) c.*1205C= (n.*1205C=) c.3963C= (p.His1321=) c.3654C= (p.His1218=) n.539-4863G= n.3658C= c.3828C= (p.His1276=) c.4032C= (p.His1344=) | |
| 16 | g.16154918G>T | CA394875582 | ABCC6 | n.859C>A c.*168C>A (n.*168C>A) c.3996C>A (p.His1332Gln) c.810C>A (p.His270Gln) c.3621C>A (n.3621C>A) c.*1205C>A (n.*1205C>A) c.3963C>A (p.His1321Gln) c.3654C>A (p.His1218Gln) n.539-4863G>T n.3658C>A c.3828C>A (p.His1276Gln) c.4032C>A (p.His1344Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.16154919T>A | CA394875583 | ABCC6 | n.858A>T c.*167A>T (n.*167A>T) c.3995A>T (p.His1332Leu) c.809A>T (p.His270Leu) c.3620A>T (n.3620A>T) c.*1204A>T (n.*1204A>T) c.3962A>T (p.His1321Leu) c.3653A>T (p.His1218Leu) n.539-4862T>A n.3657A>T c.3827A>T (p.His1276Leu) c.4031A>T (p.His1344Leu) | |
| 16 | g.16154919T>C | CA394875585 | ABCC6 | n.858A>G c.*167A>G (n.*167A>G) c.3995A>G (p.His1332Arg) c.809A>G (p.His270Arg) c.3620A>G (n.3620A>G) c.*1204A>G (n.*1204A>G) c.3962A>G (p.His1321Arg) c.3653A>G (p.His1218Arg) n.539-4862T>C n.3657A>G c.3827A>G (p.His1276Arg) c.4031A>G (p.His1344Arg) | gnomAD v4 |
| 16 | g.16154919T>G | CA394875584 | ABCC6 | n.858A>C c.*167A>C (n.*167A>C) c.3995A>C (p.His1332Pro) c.809A>C (p.His270Pro) c.3620A>C (n.3620A>C) c.*1204A>C (n.*1204A>C) c.3962A>C (p.His1321Pro) c.3653A>C (p.His1218Pro) n.539-4862T>G n.3657A>C c.3827A>C (p.His1276Pro) c.4031A>C (p.His1344Pro) | |
| 16 | g.16154920G>A | CA394875587 | ABCC6 | n.857C>T c.*166C>T (n.*166C>T) c.3994C>T (p.His1332Tyr) c.808C>T (p.His270Tyr) c.3619C>T (n.3619C>T) c.*1203C>T (n.*1203C>T) c.3961C>T (p.His1321Tyr) c.3652C>T (p.His1218Tyr) n.539-4861G>A n.3656C>T c.3826C>T (p.His1276Tyr) c.4030C>T (p.His1344Tyr) | dbSNP gnomAD v2 |
| 16 | g.16154920G>C | CA394875588 | ABCC6 | n.857C>G c.*166C>G (n.*166C>G) c.3994C>G (p.His1332Asp) c.808C>G (p.His270Asp) c.3619C>G (n.3619C>G) c.*1203C>G (n.*1203C>G) c.3961C>G (p.His1321Asp) c.3652C>G (p.His1218Asp) n.539-4861G>C n.3656C>G c.3826C>G (p.His1276Asp) c.4030C>G (p.His1344Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.16154920G= | CA2210140921 | ABCC6 | n.857C= c.*166C= (n.*166C=) c.3994C= (p.His1332=) c.808C= (p.His270=) c.3619C= (n.3619C=) c.*1203C= (n.*1203C=) c.3961C= (p.His1321=) c.3652C= (p.His1218=) n.539-4861G= n.3656C= c.3826C= (p.His1276=) c.4030C= (p.His1344=) | |
| 16 | g.16154920G>T | CA7925358 | ABCC6 | n.857C>A c.*166C>A (n.*166C>A) c.3994C>A (p.His1332Asn) c.808C>A (p.His270Asn) c.3619C>A (n.3619C>A) c.*1203C>A (n.*1203C>A) c.3961C>A (p.His1321Asn) c.3652C>A (p.His1218Asn) n.539-4861G>T n.3656C>A c.3826C>A (p.His1276Asn) c.4030C>A (p.His1344Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.16154922dup | CA2999627056 | ABCC6 | n.857dup c.*166dup (n.*166dup) c.3994dup (p.His1332ProfsTer?) c.808dup (p.His270ProfsTer?) c.3619dup (n.3619dup) c.*1203dup (n.*1203dup) c.3961dup (p.His1321ProfsTer?) c.3652dup (p.His1218ProfsTer?) n.539-4859dup n.3656dup c.3826dup (p.His1276ProfsTer?) c.4030dup (p.His1344ProfsTer?) | |
| 16 | g.16154921G>A | CA493797209 | ABCC6 | n.856C>T c.*165C>T (n.*165C>T) c.3993C>T (p.Ala1331=) c.807C>T (p.Ala269=) c.3618C>T (n.3618C>T) c.*1202C>T (n.*1202C>T) c.3960C>T (p.Ala1320=) c.3651C>T (p.Ala1217=) n.539-4860G>A n.3655C>T c.3825C>T (p.Ala1275=) c.4029C>T (p.Ala1343=) | |
| 16 | g.16154921G>C | CA493797210 | ABCC6 | n.856C>G c.*165C>G (n.*165C>G) c.3993C>G (p.Ala1331=) c.807C>G (p.Ala269=) c.3618C>G (n.3618C>G) c.*1202C>G (n.*1202C>G) c.3960C>G (p.Ala1320=) c.3651C>G (p.Ala1217=) n.539-4860G>C n.3655C>G c.3825C>G (p.Ala1275=) c.4029C>G (p.Ala1343=) | gnomAD v4 |
| 16 | g.16154921G>T | CA493797212 | ABCC6 | n.856C>A c.*165C>A (n.*165C>A) c.3993C>A (p.Ala1331=) c.807C>A (p.Ala269=) c.3618C>A (n.3618C>A) c.*1202C>A (n.*1202C>A) c.3960C>A (p.Ala1320=) c.3651C>A (p.Ala1217=) n.539-4860G>T n.3655C>A c.3825C>A (p.Ala1275=) c.4029C>A (p.Ala1343=) | gnomAD v4 |
| 16 | g.16154921_16154924del | CA3046160293 | ABCC6 | n.853_856del c.*162_*165del (n.*162_*165del) c.3990_3993del (p.Ala1331ThrfsTer27) c.804_807del (p.Ala269ThrfsTer27) c.3615_3618del (n.3615_3618del) c.*1199_*1202del (n.*1199_*1202del) c.3957_3960del (p.Ala1320ThrfsTer27) c.3648_3651del (p.Ala1217ThrfsTer27) n.539-4860_539-4857del n.3652_3655del c.3822_3825del (p.Ala1275ThrfsTer27) c.4026_4029del (p.Ala1343ThrfsTer27) | |
| 16 | g.16154922G>A | CA7925359 | ABCC6 | n.855C>T c.*164C>T (n.*164C>T) c.3992C>T (p.Ala1331Val) c.806C>T (p.Ala269Val) c.3617C>T (n.3617C>T) c.*1201C>T (n.*1201C>T) c.3959C>T (p.Ala1320Val) c.3650C>T (p.Ala1217Val) n.539-4859G>A n.3654C>T c.3824C>T (p.Ala1275Val) c.4028C>T (p.Ala1343Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154922G>C | CA394875590 | ABCC6 | n.855C>G c.*164C>G (n.*164C>G) c.3992C>G (p.Ala1331Gly) c.806C>G (p.Ala269Gly) c.3617C>G (n.3617C>G) c.*1201C>G (n.*1201C>G) c.3959C>G (p.Ala1320Gly) c.3650C>G (p.Ala1217Gly) n.539-4859G>C n.3654C>G c.3824C>G (p.Ala1275Gly) c.4028C>G (p.Ala1343Gly) | |
| 16 | g.16154922G= | CA2210140923 | ABCC6 | n.855C= c.*164C= (n.*164C=) c.3992C= (p.Ala1331=) c.806C= (p.Ala269=) c.3617C= (n.3617C=) c.*1201C= (n.*1201C=) c.3959C= (p.Ala1320=) c.3650C= (p.Ala1217=) n.539-4859G= n.3654C= c.3824C= (p.Ala1275=) c.4028C= (p.Ala1343=) | |
| 16 | g.16154922G>T | CA394875591 | ABCC6 | n.855C>A c.*164C>A (n.*164C>A) c.3992C>A (p.Ala1331Asp) c.806C>A (p.Ala269Asp) c.3617C>A (n.3617C>A) c.*1201C>A (n.*1201C>A) c.3959C>A (p.Ala1320Asp) c.3650C>A (p.Ala1217Asp) n.539-4859G>T n.3654C>A c.3824C>A (p.Ala1275Asp) c.4028C>A (p.Ala1343Asp) | gnomAD v4 |
| 16 | g.16154923del | CA2999627073 | ABCC6 | n.854del c.*163del (n.*163del) c.3991del (p.Ala1331ProfsTer28) c.805del (p.Ala269ProfsTer28) c.3616del (n.3616del) c.*1200del (n.*1200del) c.3958del (p.Ala1320ProfsTer28) c.3649del (p.Ala1217ProfsTer28) n.539-4858del n.3653del c.3823del (p.Ala1275ProfsTer28) c.4027del (p.Ala1343ProfsTer28) | |
| 16 | g.16154923C>A | CA394875592 | ABCC6 | n.854G>T c.*163G>T (n.*163G>T) c.3991G>T (p.Ala1331Ser) c.805G>T (p.Ala269Ser) c.3616G>T (n.3616G>T) c.*1200G>T (n.*1200G>T) c.3958G>T (p.Ala1320Ser) c.3649G>T (p.Ala1217Ser) n.539-4858C>A n.3653G>T c.3823G>T (p.Ala1275Ser) c.4027G>T (p.Ala1343Ser) | gnomAD v4 |
| 16 | g.16154923C>G | CA394875593 | ABCC6 | n.854G>C c.*163G>C (n.*163G>C) c.3991G>C (p.Ala1331Pro) c.805G>C (p.Ala269Pro) c.3616G>C (n.3616G>C) c.*1200G>C (n.*1200G>C) c.3958G>C (p.Ala1320Pro) c.3649G>C (p.Ala1217Pro) n.539-4858C>G n.3653G>C c.3823G>C (p.Ala1275Pro) c.4027G>C (p.Ala1343Pro) | |
| 16 | g.16154923C>T | CA394875594 | ABCC6 | n.854G>A c.*163G>A (n.*163G>A) c.3991G>A (p.Ala1331Thr) c.805G>A (p.Ala269Thr) c.3616G>A (n.3616G>A) c.*1200G>A (n.*1200G>A) c.3958G>A (p.Ala1320Thr) c.3649G>A (p.Ala1217Thr) n.539-4858C>T n.3653G>A c.3823G>A (p.Ala1275Thr) c.4027G>A (p.Ala1343Thr) | |
| 16 | g.16154924A= | CA2210140925 | ABCC6 | n.853T= c.*162T= (n.*162T=) c.3990T= (p.Ile1330=) c.804T= (p.Ile268=) c.3615T= (n.3615T=) c.*1199T= (n.*1199T=) c.3957T= (p.Ile1319=) c.3648T= (p.Ile1216=) n.539-4857A= n.3652T= c.3822T= (p.Ile1274=) c.4026T= (p.Ile1342=) | |
| 16 | g.16154924A>C | CA394875595 | ABCC6 | n.853T>G c.*162T>G (n.*162T>G) c.3990T>G (p.Ile1330Met) c.804T>G (p.Ile268Met) c.3615T>G (n.3615T>G) c.*1199T>G (n.*1199T>G) c.3957T>G (p.Ile1319Met) c.3648T>G (p.Ile1216Met) n.539-4857A>C n.3652T>G c.3822T>G (p.Ile1274Met) c.4026T>G (p.Ile1342Met) |