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.16134392A= | CA2210121670 | ABCC1 | c.4039A= (p.Thr1347=) c.4009A= (p.Thr1337=) c.3832A= (p.Thr1278=) n.735A= c.3538A= (p.Thr1180=) c.*1301A= (n.*1301A=) c.3061A= (p.Thr1021=) c.3734A= c.3985A= (p.Thr1329=) c.3916A= (p.Thr1306=) c.4063A= (p.Thr1355=) c.3937A= (p.Thr1313=) c.3925A= (p.Thr1309=) c.3886A= (p.Thr1296=) c.3799A= (p.Thr1267=) c.3718A= (p.Thr1240=) | |
| 16 | g.16134392A>C | CA394878687 | ABCC1 | c.4039A>C (p.Thr1347Pro) c.4009A>C (p.Thr1337Pro) c.3832A>C (p.Thr1278Pro) n.735A>C c.3538A>C (p.Thr1180Pro) c.*1301A>C (n.*1301A>C) c.3061A>C (p.Thr1021Pro) c.3734A>C c.3985A>C (p.Thr1329Pro) c.3916A>C (p.Thr1306Pro) c.4063A>C (p.Thr1355Pro) c.3937A>C (p.Thr1313Pro) c.3925A>C (p.Thr1309Pro) c.3886A>C (p.Thr1296Pro) c.3799A>C (p.Thr1267Pro) c.3718A>C (p.Thr1240Pro) | |
| 16 | g.16134392A>G | CA278660878 | ABCC1 | c.4039A>G (p.Thr1347Ala) c.4009A>G (p.Thr1337Ala) c.3832A>G (p.Thr1278Ala) n.735A>G c.3538A>G (p.Thr1180Ala) c.*1301A>G (n.*1301A>G) c.3061A>G (p.Thr1021Ala) c.3734A>G c.3985A>G (p.Thr1329Ala) c.3916A>G (p.Thr1306Ala) c.4063A>G (p.Thr1355Ala) c.3937A>G (p.Thr1313Ala) c.3925A>G (p.Thr1309Ala) c.3886A>G (p.Thr1296Ala) c.3799A>G (p.Thr1267Ala) c.3718A>G (p.Thr1240Ala) | dbSNP gnomAD v4 |
| 16 | g.16134392A>T | CA394878690 | ABCC1 | c.4039A>T (p.Thr1347Ser) c.4009A>T (p.Thr1337Ser) c.3832A>T (p.Thr1278Ser) n.735A>T c.3538A>T (p.Thr1180Ser) c.*1301A>T (n.*1301A>T) c.3061A>T (p.Thr1021Ser) c.3734A>T c.3985A>T (p.Thr1329Ser) c.3916A>T (p.Thr1306Ser) c.4063A>T (p.Thr1355Ser) c.3937A>T (p.Thr1313Ser) c.3925A>T (p.Thr1309Ser) c.3886A>T (p.Thr1296Ser) c.3799A>T (p.Thr1267Ser) c.3718A>T (p.Thr1240Ser) | |
| 16 | g.16134393C>A | CA7924921 | ABCC1 | c.4040C>A (p.Thr1347Asn) c.4010C>A (p.Thr1337Asn) c.3833C>A (p.Thr1278Asn) n.736C>A c.3539C>A (p.Thr1180Asn) c.*1302C>A (n.*1302C>A) c.3062C>A (p.Thr1021Asn) c.3735C>A c.3986C>A (p.Thr1329Asn) c.3917C>A (p.Thr1306Asn) c.4064C>A (p.Thr1355Asn) c.3938C>A (p.Thr1313Asn) c.3926C>A (p.Thr1309Asn) c.3887C>A (p.Thr1296Asn) c.3800C>A (p.Thr1267Asn) c.3719C>A (p.Thr1240Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.16134393C= | CA2210121671 | ABCC1 | c.4040C= (p.Thr1347=) c.4010C= (p.Thr1337=) c.3833C= (p.Thr1278=) n.736C= c.3539C= (p.Thr1180=) c.*1302C= (n.*1302C=) c.3062C= (p.Thr1021=) c.3735C= c.3986C= (p.Thr1329=) c.3917C= (p.Thr1306=) c.4064C= (p.Thr1355=) c.3938C= (p.Thr1313=) c.3926C= (p.Thr1309=) c.3887C= (p.Thr1296=) c.3800C= (p.Thr1267=) c.3719C= (p.Thr1240=) | |
| 16 | g.16134393C>G | CA394878693 | ABCC1 | c.4040C>G (p.Thr1347Ser) c.4010C>G (p.Thr1337Ser) c.3833C>G (p.Thr1278Ser) n.736C>G c.3539C>G (p.Thr1180Ser) c.*1302C>G (n.*1302C>G) c.3062C>G (p.Thr1021Ser) c.3735C>G c.3986C>G (p.Thr1329Ser) c.3917C>G (p.Thr1306Ser) c.4064C>G (p.Thr1355Ser) c.3938C>G (p.Thr1313Ser) c.3926C>G (p.Thr1309Ser) c.3887C>G (p.Thr1296Ser) c.3800C>G (p.Thr1267Ser) c.3719C>G (p.Thr1240Ser) | |
| 16 | g.16134393C>T | CA394878692 | ABCC1 | c.4040C>T (p.Thr1347Ile) c.4010C>T (p.Thr1337Ile) c.3833C>T (p.Thr1278Ile) n.736C>T c.3539C>T (p.Thr1180Ile) c.*1302C>T (n.*1302C>T) c.3062C>T (p.Thr1021Ile) c.3735C>T c.3986C>T (p.Thr1329Ile) c.3917C>T (p.Thr1306Ile) c.4064C>T (p.Thr1355Ile) c.3938C>T (p.Thr1313Ile) c.3926C>T (p.Thr1309Ile) c.3887C>T (p.Thr1296Ile) c.3800C>T (p.Thr1267Ile) c.3719C>T (p.Thr1240Ile) | |
| 16 | g.16134394C>A | CA493797754 | ABCC1 | c.4041C>A (p.Thr1347=) c.4011C>A (p.Thr1337=) c.3834C>A (p.Thr1278=) n.737C>A c.3540C>A (p.Thr1180=) c.*1303C>A (n.*1303C>A) c.3063C>A (p.Thr1021=) c.3736C>A c.3987C>A (p.Thr1329=) c.3918C>A (p.Thr1306=) c.4065C>A (p.Thr1355=) c.3939C>A (p.Thr1313=) c.3927C>A (p.Thr1309=) c.3888C>A (p.Thr1296=) c.3801C>A (p.Thr1267=) c.3720C>A (p.Thr1240=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.16134394C= | CA2210121672 | ABCC1 | c.4041C= (p.Thr1347=) c.4011C= (p.Thr1337=) c.3834C= (p.Thr1278=) n.737C= c.3540C= (p.Thr1180=) c.*1303C= (n.*1303C=) c.3063C= (p.Thr1021=) c.3736C= c.3987C= (p.Thr1329=) c.3918C= (p.Thr1306=) c.4065C= (p.Thr1355=) c.3939C= (p.Thr1313=) c.3927C= (p.Thr1309=) c.3888C= (p.Thr1296=) c.3801C= (p.Thr1267=) c.3720C= (p.Thr1240=) | |
| 16 | g.16134394C>G | CA493797755 | ABCC1 | c.4041C>G (p.Thr1347=) c.4011C>G (p.Thr1337=) c.3834C>G (p.Thr1278=) n.737C>G c.3540C>G (p.Thr1180=) c.*1303C>G (n.*1303C>G) c.3063C>G (p.Thr1021=) c.3736C>G c.3987C>G (p.Thr1329=) c.3918C>G (p.Thr1306=) c.4065C>G (p.Thr1355=) c.3939C>G (p.Thr1313=) c.3927C>G (p.Thr1309=) c.3888C>G (p.Thr1296=) c.3801C>G (p.Thr1267=) c.3720C>G (p.Thr1240=) | |
| 16 | g.16134394C>T | CA7924922 | ABCC1 | c.4041C>T (p.Thr1347=) c.4011C>T (p.Thr1337=) c.3834C>T (p.Thr1278=) n.737C>T c.3540C>T (p.Thr1180=) c.*1303C>T (n.*1303C>T) c.3063C>T (p.Thr1021=) c.3736C>T c.3987C>T (p.Thr1329=) c.3918C>T (p.Thr1306=) c.4065C>T (p.Thr1355=) c.3939C>T (p.Thr1313=) c.3927C>T (p.Thr1309=) c.3888C>T (p.Thr1296=) c.3801C>T (p.Thr1267=) c.3720C>T (p.Thr1240=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16134395C>A | CA394878694 | ABCC1 | c.4042C>A (p.Leu1348Met) c.4012C>A (p.Leu1338Met) c.3835C>A (p.Leu1279Met) n.738C>A c.3541C>A (p.Leu1181Met) c.*1304C>A (n.*1304C>A) c.3064C>A (p.Leu1022Met) c.3737C>A c.3988C>A (p.Leu1330Met) c.3919C>A (p.Leu1307Met) c.4066C>A (p.Leu1356Met) c.3940C>A (p.Leu1314Met) c.3928C>A (p.Leu1310Met) c.3889C>A (p.Leu1297Met) c.3802C>A (p.Leu1268Met) c.3721C>A (p.Leu1241Met) | |
| 16 | g.16134395C= | CA2210121673 | ABCC1 | c.4042C= (p.Leu1348=) c.4012C= (p.Leu1338=) c.3835C= (p.Leu1279=) n.738C= c.3541C= (p.Leu1181=) c.*1304C= (n.*1304C=) c.3064C= (p.Leu1022=) c.3737C= c.3988C= (p.Leu1330=) c.3919C= (p.Leu1307=) c.4066C= (p.Leu1356=) c.3940C= (p.Leu1314=) c.3928C= (p.Leu1310=) c.3889C= (p.Leu1297=) c.3802C= (p.Leu1268=) c.3721C= (p.Leu1241=) | |
| 16 | g.16134395C>G | CA394878695 | ABCC1 | c.4042C>G (p.Leu1348Val) c.4012C>G (p.Leu1338Val) c.3835C>G (p.Leu1279Val) n.738C>G c.3541C>G (p.Leu1181Val) c.*1304C>G (n.*1304C>G) c.3064C>G (p.Leu1022Val) c.3737C>G c.3988C>G (p.Leu1330Val) c.3919C>G (p.Leu1307Val) c.4066C>G (p.Leu1356Val) c.3940C>G (p.Leu1314Val) c.3928C>G (p.Leu1310Val) c.3889C>G (p.Leu1297Val) c.3802C>G (p.Leu1268Val) c.3721C>G (p.Leu1241Val) | dbSNP |
| 16 | g.16134395C>T | CA493797756 | ABCC1 | c.4042C>T (p.Leu1348=) c.4012C>T (p.Leu1338=) c.3835C>T (p.Leu1279=) n.738C>T c.3541C>T (p.Leu1181=) c.*1304C>T (n.*1304C>T) c.3064C>T (p.Leu1022=) c.3737C>T c.3988C>T (p.Leu1330=) c.3919C>T (p.Leu1307=) c.4066C>T (p.Leu1356=) c.3940C>T (p.Leu1314=) c.3928C>T (p.Leu1310=) c.3889C>T (p.Leu1297=) c.3802C>T (p.Leu1268=) c.3721C>T (p.Leu1241=) | COSMIC COSMIC |
| 16 | g.16134396T>A | CA394878999 | ABCC1 | c.4043T>A (p.Leu1348Gln) c.4013T>A (p.Leu1338Gln) c.3836T>A (p.Leu1279Gln) n.739T>A c.3542T>A (p.Leu1181Gln) c.*1305T>A (n.*1305T>A) c.3065T>A (p.Leu1022Gln) c.3738T>A c.3989T>A (p.Leu1330Gln) c.3920T>A (p.Leu1307Gln) c.4067T>A (p.Leu1356Gln) c.3941T>A (p.Leu1314Gln) c.3929T>A (p.Leu1310Gln) c.3890T>A (p.Leu1297Gln) c.3803T>A (p.Leu1268Gln) c.3722T>A (p.Leu1241Gln) | |
| 16 | g.16134396T>C | CA394879001 | ABCC1 | c.4043T>C (p.Leu1348Pro) c.4013T>C (p.Leu1338Pro) c.3836T>C (p.Leu1279Pro) n.739T>C c.3542T>C (p.Leu1181Pro) c.*1305T>C (n.*1305T>C) c.3065T>C (p.Leu1022Pro) c.3738T>C c.3989T>C (p.Leu1330Pro) c.3920T>C (p.Leu1307Pro) c.4067T>C (p.Leu1356Pro) c.3941T>C (p.Leu1314Pro) c.3929T>C (p.Leu1310Pro) c.3890T>C (p.Leu1297Pro) c.3803T>C (p.Leu1268Pro) c.3722T>C (p.Leu1241Pro) | |
| 16 | g.16134396T>G | CA394879002 | ABCC1 | c.4043T>G (p.Leu1348Arg) c.4013T>G (p.Leu1338Arg) c.3836T>G (p.Leu1279Arg) n.739T>G c.3542T>G (p.Leu1181Arg) c.*1305T>G (n.*1305T>G) c.3065T>G (p.Leu1022Arg) c.3738T>G c.3989T>G (p.Leu1330Arg) c.3920T>G (p.Leu1307Arg) c.4067T>G (p.Leu1356Arg) c.3941T>G (p.Leu1314Arg) c.3929T>G (p.Leu1310Arg) c.3890T>G (p.Leu1297Arg) c.3803T>G (p.Leu1268Arg) c.3722T>G (p.Leu1241Arg) | |
| 16 | g.16134397G>A | CA493797757 | ABCC1 | c.4044G>A (p.Leu1348=) c.4014G>A (p.Leu1338=) c.3837G>A (p.Leu1279=) n.740G>A c.3543G>A (p.Leu1181=) c.*1306G>A (n.*1306G>A) c.3066G>A (p.Leu1022=) c.3739G>A c.3990G>A (p.Leu1330=) c.3921G>A (p.Leu1307=) c.4068G>A (p.Leu1356=) c.3942G>A (p.Leu1314=) c.3930G>A (p.Leu1310=) c.3891G>A (p.Leu1297=) c.3804G>A (p.Leu1268=) c.3723G>A (p.Leu1241=) | |
| 16 | g.16134397G>C | CA493797758 | ABCC1 | c.4044G>C (p.Leu1348=) c.4014G>C (p.Leu1338=) c.3837G>C (p.Leu1279=) n.740G>C c.3543G>C (p.Leu1181=) c.*1306G>C (n.*1306G>C) c.3066G>C (p.Leu1022=) c.3739G>C c.3990G>C (p.Leu1330=) c.3921G>C (p.Leu1307=) c.4068G>C (p.Leu1356=) c.3942G>C (p.Leu1314=) c.3930G>C (p.Leu1310=) c.3891G>C (p.Leu1297=) c.3804G>C (p.Leu1268=) c.3723G>C (p.Leu1241=) | |
| 16 | g.16134397G>T | CA493797759 | ABCC1 | c.4044G>T (p.Leu1348=) c.4014G>T (p.Leu1338=) c.3837G>T (p.Leu1279=) n.740G>T c.3543G>T (p.Leu1181=) c.*1306G>T (n.*1306G>T) c.3066G>T (p.Leu1022=) c.3739G>T c.3990G>T (p.Leu1330=) c.3921G>T (p.Leu1307=) c.4068G>T (p.Leu1356=) c.3942G>T (p.Leu1314=) c.3930G>T (p.Leu1310=) c.3891G>T (p.Leu1297=) c.3804G>T (p.Leu1268=) c.3723G>T (p.Leu1241=) | |
| 16 | g.16134398G>A | CA394879004 | ABCC1 | c.4045G>A (p.Gly1349Ser) c.4015G>A (p.Gly1339Ser) c.3838G>A (p.Gly1280Ser) n.741G>A c.3544G>A (p.Gly1182Ser) c.*1307G>A (n.*1307G>A) c.3067G>A (p.Gly1023Ser) c.3740G>A c.3991G>A (p.Gly1331Ser) c.3922G>A (p.Gly1308Ser) c.4069G>A (p.Gly1357Ser) c.3943G>A (p.Gly1315Ser) c.3931G>A (p.Gly1311Ser) c.3892G>A (p.Gly1298Ser) c.3805G>A (p.Gly1269Ser) c.3724G>A (p.Gly1242Ser) | |
| 16 | g.16134398G>C | CA394879006 | ABCC1 | c.4045G>C (p.Gly1349Arg) c.4015G>C (p.Gly1339Arg) c.3838G>C (p.Gly1280Arg) n.741G>C c.3544G>C (p.Gly1182Arg) c.*1307G>C (n.*1307G>C) c.3067G>C (p.Gly1023Arg) c.3740G>C c.3991G>C (p.Gly1331Arg) c.3922G>C (p.Gly1308Arg) c.4069G>C (p.Gly1357Arg) c.3943G>C (p.Gly1315Arg) c.3931G>C (p.Gly1311Arg) c.3892G>C (p.Gly1298Arg) c.3805G>C (p.Gly1269Arg) c.3724G>C (p.Gly1242Arg) | |
| 16 | g.16134398G>T | CA394879007 | ABCC1 | c.4045G>T (p.Gly1349Cys) c.4015G>T (p.Gly1339Cys) c.3838G>T (p.Gly1280Cys) n.741G>T c.3544G>T (p.Gly1182Cys) c.*1307G>T (n.*1307G>T) c.3067G>T (p.Gly1023Cys) c.3740G>T c.3991G>T (p.Gly1331Cys) c.3922G>T (p.Gly1308Cys) c.4069G>T (p.Gly1357Cys) c.3943G>T (p.Gly1315Cys) c.3931G>T (p.Gly1311Cys) c.3892G>T (p.Gly1298Cys) c.3805G>T (p.Gly1269Cys) c.3724G>T (p.Gly1242Cys) | |
| 16 | g.16134399G>A | CA394879009 | ABCC1 | c.4046G>A (p.Gly1349Asp) c.4016G>A (p.Gly1339Asp) c.3839G>A (p.Gly1280Asp) n.742G>A c.3545G>A (p.Gly1182Asp) c.*1308G>A (n.*1308G>A) c.3068G>A (p.Gly1023Asp) c.3741G>A c.3992G>A (p.Gly1331Asp) c.3923G>A (p.Gly1308Asp) c.4070G>A (p.Gly1357Asp) c.3944G>A (p.Gly1315Asp) c.3932G>A (p.Gly1311Asp) c.3893G>A (p.Gly1298Asp) c.3806G>A (p.Gly1269Asp) c.3725G>A (p.Gly1242Asp) | |
| 16 | g.16134399G>C | CA394879011 | ABCC1 | c.4046G>C (p.Gly1349Ala) c.4016G>C (p.Gly1339Ala) c.3839G>C (p.Gly1280Ala) n.742G>C c.3545G>C (p.Gly1182Ala) c.*1308G>C (n.*1308G>C) c.3068G>C (p.Gly1023Ala) c.3741G>C c.3992G>C (p.Gly1331Ala) c.3923G>C (p.Gly1308Ala) c.4070G>C (p.Gly1357Ala) c.3944G>C (p.Gly1315Ala) c.3932G>C (p.Gly1311Ala) c.3893G>C (p.Gly1298Ala) c.3806G>C (p.Gly1269Ala) c.3725G>C (p.Gly1242Ala) | COSMIC |
| 16 | g.16134399G>T | CA394879012 | ABCC1 | c.4046G>T (p.Gly1349Val) c.4016G>T (p.Gly1339Val) c.3839G>T (p.Gly1280Val) n.742G>T c.3545G>T (p.Gly1182Val) c.*1308G>T (n.*1308G>T) c.3068G>T (p.Gly1023Val) c.3741G>T c.3992G>T (p.Gly1331Val) c.3923G>T (p.Gly1308Val) c.4070G>T (p.Gly1357Val) c.3944G>T (p.Gly1315Val) c.3932G>T (p.Gly1311Val) c.3893G>T (p.Gly1298Val) c.3806G>T (p.Gly1269Val) c.3725G>T (p.Gly1242Val) | |
| 16 | g.16134399_16134400delinsGC | CA2210121674 | ABCC1 | c.4046_4047delinsGC (p.Gly1349=) c.4016_4017delinsGC (p.Gly1339=) c.3839_3840delinsGC (p.Gly1280=) n.742_743delinsGC c.3545_3546delinsGC (p.Gly1182=) c.*1308_*1309delinsGC (n.*1308_*1309delinsGC) c.3068_3069delinsGC (p.Gly1023=) c.3741_3742delinsGC c.3992_3993delinsGC (p.Gly1331=) c.3923_3924delinsGC (p.Gly1308=) c.4070_4071delinsGC (p.Gly1357=) c.3944_3945delinsGC (p.Gly1315=) c.3932_3933delinsGC (p.Gly1311=) c.3893_3894delinsGC (p.Gly1298=) c.3806_3807delinsGC (p.Gly1269=) c.3725_3726delinsGC (p.Gly1242=) | |
| 16 | g.16134400del | CA7924923 | ABCC1 | c.4047del (p.Leu1350TyrfsTer?) c.4017del (p.Leu1340TyrfsTer?) c.3840del (p.Leu1281TyrfsTer?) n.743del c.3546del (p.Leu1183TyrfsTer?) c.*1309del (n.*1309del) c.3069del (p.Leu1024TyrfsTer?) c.3742del c.3993del (p.Leu1332TyrfsTer?) c.3924del (p.Leu1309TyrfsTer?) c.4071del (p.Leu1358TyrfsTer?) c.3945del (p.Leu1316TyrfsTer?) c.3933del (p.Leu1312TyrfsTer?) c.3894del (p.Leu1299TyrfsTer?) c.3807del (p.Leu1270TyrfsTer?) c.3726del (p.Leu1243TyrfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.16134400C>A | CA278660915 | ABCC1 | c.4047C>A (p.Gly1349=) c.4017C>A (p.Gly1339=) c.3840C>A (p.Gly1280=) n.743C>A c.3546C>A (p.Gly1182=) c.*1309C>A (n.*1309C>A) c.3069C>A (p.Gly1023=) c.3742C>A c.3993C>A (p.Gly1331=) c.3924C>A (p.Gly1308=) c.4071C>A (p.Gly1357=) c.3945C>A (p.Gly1315=) c.3933C>A (p.Gly1311=) c.3894C>A (p.Gly1298=) c.3807C>A (p.Gly1269=) c.3726C>A (p.Gly1242=) | dbSNP |
| 16 | g.16134400C= | CA2210121675 | ABCC1 | c.4047C= (p.Gly1349=) c.4017C= (p.Gly1339=) c.3840C= (p.Gly1280=) n.743C= c.3546C= (p.Gly1182=) c.*1309C= (n.*1309C=) c.3069C= (p.Gly1023=) c.3742C= c.3993C= (p.Gly1331=) c.3924C= (p.Gly1308=) c.4071C= (p.Gly1357=) c.3945C= (p.Gly1315=) c.3933C= (p.Gly1311=) c.3894C= (p.Gly1298=) c.3807C= (p.Gly1269=) c.3726C= (p.Gly1242=) | |
| 16 | g.16134400C>G | CA493797760 | ABCC1 | c.4047C>G (p.Gly1349=) c.4017C>G (p.Gly1339=) c.3840C>G (p.Gly1280=) n.743C>G c.3546C>G (p.Gly1182=) c.*1309C>G (n.*1309C>G) c.3069C>G (p.Gly1023=) c.3742C>G c.3993C>G (p.Gly1331=) c.3924C>G (p.Gly1308=) c.4071C>G (p.Gly1357=) c.3945C>G (p.Gly1315=) c.3933C>G (p.Gly1311=) c.3894C>G (p.Gly1298=) c.3807C>G (p.Gly1269=) c.3726C>G (p.Gly1242=) | |
| 16 | g.16134400C>T | CA493797761 | ABCC1 | c.4047C>T (p.Gly1349=) c.4017C>T (p.Gly1339=) c.3840C>T (p.Gly1280=) n.743C>T c.3546C>T (p.Gly1182=) c.*1309C>T (n.*1309C>T) c.3069C>T (p.Gly1023=) c.3742C>T c.3993C>T (p.Gly1331=) c.3924C>T (p.Gly1308=) c.4071C>T (p.Gly1357=) c.3945C>T (p.Gly1315=) c.3933C>T (p.Gly1311=) c.3894C>T (p.Gly1298=) c.3807C>T (p.Gly1269=) c.3726C>T (p.Gly1242=) | gnomAD v4 |
| 16 | g.16134401T>A | CA394879015 | ABCC1 | c.4048T>A (p.Leu1350Ile) c.4018T>A (p.Leu1340Ile) c.3841T>A (p.Leu1281Ile) n.744T>A c.3547T>A (p.Leu1183Ile) c.*1310T>A (n.*1310T>A) c.3070T>A (p.Leu1024Ile) c.3743T>A c.3994T>A (p.Leu1332Ile) c.3925T>A (p.Leu1309Ile) c.4072T>A (p.Leu1358Ile) c.3946T>A (p.Leu1316Ile) c.3934T>A (p.Leu1312Ile) c.3895T>A (p.Leu1299Ile) c.3808T>A (p.Leu1270Ile) c.3727T>A (p.Leu1243Ile) | |
| 16 | g.16134401T>C | CA493797762 | ABCC1 | c.4048T>C (p.Leu1350=) c.4018T>C (p.Leu1340=) c.3841T>C (p.Leu1281=) n.744T>C c.3547T>C (p.Leu1183=) c.*1310T>C (n.*1310T>C) c.3070T>C (p.Leu1024=) c.3743T>C c.3994T>C (p.Leu1332=) c.3925T>C (p.Leu1309=) c.4072T>C (p.Leu1358=) c.3946T>C (p.Leu1316=) c.3934T>C (p.Leu1312=) c.3895T>C (p.Leu1299=) c.3808T>C (p.Leu1270=) c.3727T>C (p.Leu1243=) | |
| 16 | g.16134401T>G | CA394879016 | ABCC1 | c.4048T>G (p.Leu1350Val) c.4018T>G (p.Leu1340Val) c.3841T>G (p.Leu1281Val) n.744T>G c.3547T>G (p.Leu1183Val) c.*1310T>G (n.*1310T>G) c.3070T>G (p.Leu1024Val) c.3743T>G c.3994T>G (p.Leu1332Val) c.3925T>G (p.Leu1309Val) c.4072T>G (p.Leu1358Val) c.3946T>G (p.Leu1316Val) c.3934T>G (p.Leu1312Val) c.3895T>G (p.Leu1299Val) c.3808T>G (p.Leu1270Val) c.3727T>G (p.Leu1243Val) | |
| 16 | g.16134402T>A | CA394879017 | ABCC1 | c.4049T>A (p.Leu1350Ter) c.4019T>A (p.Leu1340Ter) c.3842T>A (p.Leu1281Ter) n.745T>A c.3548T>A (p.Leu1183Ter) c.*1311T>A (n.*1311T>A) c.3071T>A (p.Leu1024Ter) c.3744T>A c.3995T>A (p.Leu1332Ter) c.3926T>A (p.Leu1309Ter) c.4073T>A (p.Leu1358Ter) c.3947T>A (p.Leu1316Ter) c.3935T>A (p.Leu1312Ter) c.3896T>A (p.Leu1299Ter) c.3809T>A (p.Leu1270Ter) c.3728T>A (p.Leu1243Ter) | |
| 16 | g.16134402T>C | CA394879018 | ABCC1 | c.4049T>C (p.Leu1350Ser) c.4019T>C (p.Leu1340Ser) c.3842T>C (p.Leu1281Ser) n.745T>C c.3548T>C (p.Leu1183Ser) c.*1311T>C (n.*1311T>C) c.3071T>C (p.Leu1024Ser) c.3744T>C c.3995T>C (p.Leu1332Ser) c.3926T>C (p.Leu1309Ser) c.4073T>C (p.Leu1358Ser) c.3947T>C (p.Leu1316Ser) c.3935T>C (p.Leu1312Ser) c.3896T>C (p.Leu1299Ser) c.3809T>C (p.Leu1270Ser) c.3728T>C (p.Leu1243Ser) | |
| 16 | g.16134402T>G | CA394879019 | ABCC1 | c.4049T>G (p.Leu1350Ter) c.4019T>G (p.Leu1340Ter) c.3842T>G (p.Leu1281Ter) n.745T>G c.3548T>G (p.Leu1183Ter) c.*1311T>G (n.*1311T>G) c.3071T>G (p.Leu1024Ter) c.3744T>G c.3995T>G (p.Leu1332Ter) c.3926T>G (p.Leu1309Ter) c.4073T>G (p.Leu1358Ter) c.3947T>G (p.Leu1316Ter) c.3935T>G (p.Leu1312Ter) c.3896T>G (p.Leu1299Ter) c.3809T>G (p.Leu1270Ter) c.3728T>G (p.Leu1243Ter) | |
| 16 | g.16134403A>C | CA394879021 | ABCC1 | c.4050A>C (p.Leu1350Phe) c.4020A>C (p.Leu1340Phe) c.3843A>C (p.Leu1281Phe) n.746A>C c.3549A>C (p.Leu1183Phe) c.*1312A>C (n.*1312A>C) c.3072A>C (p.Leu1024Phe) c.3745A>C c.3996A>C (p.Leu1332Phe) c.3927A>C (p.Leu1309Phe) c.4074A>C (p.Leu1358Phe) c.3948A>C (p.Leu1316Phe) c.3936A>C (p.Leu1312Phe) c.3897A>C (p.Leu1299Phe) c.3810A>C (p.Leu1270Phe) c.3729A>C (p.Leu1243Phe) | |
| 16 | g.16134403A>G | CA493797763 | ABCC1 | c.4050A>G (p.Leu1350=) c.4020A>G (p.Leu1340=) c.3843A>G (p.Leu1281=) n.746A>G c.3549A>G (p.Leu1183=) c.*1312A>G (n.*1312A>G) c.3072A>G (p.Leu1024=) c.3745A>G c.3996A>G (p.Leu1332=) c.3927A>G (p.Leu1309=) c.4074A>G (p.Leu1358=) c.3948A>G (p.Leu1316=) c.3936A>G (p.Leu1312=) c.3897A>G (p.Leu1299=) c.3810A>G (p.Leu1270=) c.3729A>G (p.Leu1243=) | gnomAD v4 |
| 16 | g.16134403A>T | CA394879023 | ABCC1 | c.4050A>T (p.Leu1350Phe) c.4020A>T (p.Leu1340Phe) c.3843A>T (p.Leu1281Phe) n.746A>T c.3549A>T (p.Leu1183Phe) c.*1312A>T (n.*1312A>T) c.3072A>T (p.Leu1024Phe) c.3745A>T c.3996A>T (p.Leu1332Phe) c.3927A>T (p.Leu1309Phe) c.4074A>T (p.Leu1358Phe) c.3948A>T (p.Leu1316Phe) c.3936A>T (p.Leu1312Phe) c.3897A>T (p.Leu1299Phe) c.3810A>T (p.Leu1270Phe) c.3729A>T (p.Leu1243Phe) | |
| 16 | g.16134404T>A | CA394879025 | ABCC1 | c.4051T>A (p.Phe1351Ile) c.4021T>A (p.Phe1341Ile) c.3844T>A (p.Phe1282Ile) n.747T>A c.3550T>A (p.Phe1184Ile) c.*1313T>A (n.*1313T>A) c.3073T>A (p.Phe1025Ile) c.3746T>A c.3997T>A (p.Phe1333Ile) c.3928T>A (p.Phe1310Ile) c.4075T>A (p.Phe1359Ile) c.3949T>A (p.Phe1317Ile) c.3937T>A (p.Phe1313Ile) c.3898T>A (p.Phe1300Ile) c.3811T>A (p.Phe1271Ile) c.3730T>A (p.Phe1244Ile) | |
| 16 | g.16134404T>C | CA394879026 | ABCC1 | c.4051T>C (p.Phe1351Leu) c.4021T>C (p.Phe1341Leu) c.3844T>C (p.Phe1282Leu) n.747T>C c.3550T>C (p.Phe1184Leu) c.*1313T>C (n.*1313T>C) c.3073T>C (p.Phe1025Leu) c.3746T>C c.3997T>C (p.Phe1333Leu) c.3928T>C (p.Phe1310Leu) c.4075T>C (p.Phe1359Leu) c.3949T>C (p.Phe1317Leu) c.3937T>C (p.Phe1313Leu) c.3898T>C (p.Phe1300Leu) c.3811T>C (p.Phe1271Leu) c.3730T>C (p.Phe1244Leu) | gnomAD v4 |
| 16 | g.16134404T>G | CA394879027 | ABCC1 | c.4051T>G (p.Phe1351Val) c.4021T>G (p.Phe1341Val) c.3844T>G (p.Phe1282Val) n.747T>G c.3550T>G (p.Phe1184Val) c.*1313T>G (n.*1313T>G) c.3073T>G (p.Phe1025Val) c.3746T>G c.3997T>G (p.Phe1333Val) c.3928T>G (p.Phe1310Val) c.4075T>G (p.Phe1359Val) c.3949T>G (p.Phe1317Val) c.3937T>G (p.Phe1313Val) c.3898T>G (p.Phe1300Val) c.3811T>G (p.Phe1271Val) c.3730T>G (p.Phe1244Val) | |
| 16 | g.16134405T>A | CA394879029 | ABCC1 | c.4052T>A (p.Phe1351Tyr) c.4022T>A (p.Phe1341Tyr) c.3845T>A (p.Phe1282Tyr) n.748T>A c.3551T>A (p.Phe1184Tyr) c.*1314T>A (n.*1314T>A) c.3074T>A (p.Phe1025Tyr) c.3747T>A c.3998T>A (p.Phe1333Tyr) c.3929T>A (p.Phe1310Tyr) c.4076T>A (p.Phe1359Tyr) c.3950T>A (p.Phe1317Tyr) c.3938T>A (p.Phe1313Tyr) c.3899T>A (p.Phe1300Tyr) c.3812T>A (p.Phe1271Tyr) c.3731T>A (p.Phe1244Tyr) | |
| 16 | g.16134405T>C | CA394879030 | ABCC1 | c.4052T>C (p.Phe1351Ser) c.4022T>C (p.Phe1341Ser) c.3845T>C (p.Phe1282Ser) n.748T>C c.3551T>C (p.Phe1184Ser) c.*1314T>C (n.*1314T>C) c.3074T>C (p.Phe1025Ser) c.3747T>C c.3998T>C (p.Phe1333Ser) c.3929T>C (p.Phe1310Ser) c.4076T>C (p.Phe1359Ser) c.3950T>C (p.Phe1317Ser) c.3938T>C (p.Phe1313Ser) c.3899T>C (p.Phe1300Ser) c.3812T>C (p.Phe1271Ser) c.3731T>C (p.Phe1244Ser) | |
| 16 | g.16134405T>G | CA394879032 | ABCC1 | c.4052T>G (p.Phe1351Cys) c.4022T>G (p.Phe1341Cys) c.3845T>G (p.Phe1282Cys) n.748T>G c.3551T>G (p.Phe1184Cys) c.*1314T>G (n.*1314T>G) c.3074T>G (p.Phe1025Cys) c.3747T>G c.3998T>G (p.Phe1333Cys) c.3929T>G (p.Phe1310Cys) c.4076T>G (p.Phe1359Cys) c.3950T>G (p.Phe1317Cys) c.3938T>G (p.Phe1313Cys) c.3899T>G (p.Phe1300Cys) c.3812T>G (p.Phe1271Cys) c.3731T>G (p.Phe1244Cys) | |
| 16 | g.16134406T>A | CA394879035 | ABCC1 | c.4053T>A (p.Phe1351Leu) c.4023T>A (p.Phe1341Leu) c.3846T>A (p.Phe1282Leu) n.749T>A c.3552T>A (p.Phe1184Leu) c.*1315T>A (n.*1315T>A) c.3075T>A (p.Phe1025Leu) c.3748T>A c.3999T>A (p.Phe1333Leu) c.3930T>A (p.Phe1310Leu) c.4077T>A (p.Phe1359Leu) c.3951T>A (p.Phe1317Leu) c.3939T>A (p.Phe1313Leu) c.3900T>A (p.Phe1300Leu) c.3813T>A (p.Phe1271Leu) c.3732T>A (p.Phe1244Leu) |