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.16154930dup | CA621656510 | ABCC6 | n.850dup c.*159dup (n.*159dup) c.3987dup (p.Ile1330HisfsTer?) c.801dup (p.Ile268HisfsTer?) c.3612dup (n.3612dup) c.*1196dup (n.*1196dup) c.3954dup (p.Ile1319HisfsTer?) c.3645dup (p.Ile1216HisfsTer?) n.539-4851dup n.3649dup c.3819dup (p.Ile1274HisfsTer?) c.4023dup (p.Ile1342HisfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.16154929G>A | CA394875606 | ABCC6 | n.848C>T c.*157C>T (n.*157C>T) c.3985C>T (p.Pro1329Ser) c.799C>T (p.Pro267Ser) c.3610C>T (n.3610C>T) c.*1194C>T (n.*1194C>T) c.3952C>T (p.Pro1318Ser) c.3643C>T (p.Pro1215Ser) n.539-4852G>A n.3647C>T c.3817C>T (p.Pro1273Ser) c.4021C>T (p.Pro1341Ser) | gnomAD v4 |
| 16 | g.16154929G>C | CA394875608 | ABCC6 | n.848C>G c.*157C>G (n.*157C>G) c.3985C>G (p.Pro1329Ala) c.799C>G (p.Pro267Ala) c.3610C>G (n.3610C>G) c.*1194C>G (n.*1194C>G) c.3952C>G (p.Pro1318Ala) c.3643C>G (p.Pro1215Ala) n.539-4852G>C n.3647C>G c.3817C>G (p.Pro1273Ala) c.4021C>G (p.Pro1341Ala) | |
| 16 | g.16154929G>T | CA394875611 | ABCC6 | n.848C>A c.*157C>A (n.*157C>A) c.3985C>A (p.Pro1329Thr) c.799C>A (p.Pro267Thr) c.3610C>A (n.3610C>A) c.*1194C>A (n.*1194C>A) c.3952C>A (p.Pro1318Thr) c.3643C>A (p.Pro1215Thr) n.539-4852G>T n.3647C>A c.3817C>A (p.Pro1273Thr) c.4021C>A (p.Pro1341Thr) | gnomAD v4 |
| 16 | g.16154930G>A | CA493797230 | ABCC6 | n.847C>T c.*156C>T (n.*156C>T) c.3984C>T (p.Val1328=) c.798C>T (p.Val266=) c.3609C>T (n.3609C>T) c.*1193C>T (n.*1193C>T) c.3951C>T (p.Val1317=) c.3642C>T (p.Val1214=) n.539-4851G>A n.3646C>T c.3816C>T (p.Val1272=) c.4020C>T (p.Val1340=) | |
| 16 | g.16154930G>C | CA493797231 | ABCC6 | n.847C>G c.*156C>G (n.*156C>G) c.3984C>G (p.Val1328=) c.798C>G (p.Val266=) c.3609C>G (n.3609C>G) c.*1193C>G (n.*1193C>G) c.3951C>G (p.Val1317=) c.3642C>G (p.Val1214=) n.539-4851G>C n.3646C>G c.3816C>G (p.Val1272=) c.4020C>G (p.Val1340=) | |
| 16 | g.16154930G>T | CA493797232 | ABCC6 | n.847C>A c.*156C>A (n.*156C>A) c.3984C>A (p.Val1328=) c.798C>A (p.Val266=) c.3609C>A (n.3609C>A) c.*1193C>A (n.*1193C>A) c.3951C>A (p.Val1317=) c.3642C>A (p.Val1214=) n.539-4851G>T n.3646C>A c.3816C>A (p.Val1272=) c.4020C>A (p.Val1340=) | |
| 16 | g.16154931A>C | CA394875615 | ABCC6 | n.846T>G c.*155T>G (n.*155T>G) c.3983T>G (p.Val1328Gly) c.797T>G (p.Val266Gly) c.3608T>G (n.3608T>G) c.*1192T>G (n.*1192T>G) c.3950T>G (p.Val1317Gly) c.3641T>G (p.Val1214Gly) n.539-4850A>C n.3645T>G c.3815T>G (p.Val1272Gly) c.4019T>G (p.Val1340Gly) | |
| 16 | g.16154931A>G | CA394875616 | ABCC6 | n.846T>C c.*155T>C (n.*155T>C) c.3983T>C (p.Val1328Ala) c.797T>C (p.Val266Ala) c.3608T>C (n.3608T>C) c.*1192T>C (n.*1192T>C) c.3950T>C (p.Val1317Ala) c.3641T>C (p.Val1214Ala) n.539-4850A>G n.3645T>C c.3815T>C (p.Val1272Ala) c.4019T>C (p.Val1340Ala) | |
| 16 | g.16154931A>T | CA394875618 | ABCC6 | n.846T>A c.*155T>A (n.*155T>A) c.3983T>A (p.Val1328Asp) c.797T>A (p.Val266Asp) c.3608T>A (n.3608T>A) c.*1192T>A (n.*1192T>A) c.3950T>A (p.Val1317Asp) c.3641T>A (p.Val1214Asp) n.539-4850A>T n.3645T>A c.3815T>A (p.Val1272Asp) c.4019T>A (p.Val1340Asp) | |
| 16 | g.16154932C>A | CA394875620 | ABCC6 | n.845G>T c.*154G>T (n.*154G>T) c.3982G>T (p.Val1328Phe) c.796G>T (p.Val266Phe) c.3607G>T (n.3607G>T) c.*1191G>T (n.*1191G>T) c.3949G>T (p.Val1317Phe) c.3640G>T (p.Val1214Phe) n.539-4849C>A n.3644G>T c.3814G>T (p.Val1272Phe) c.4018G>T (p.Val1340Phe) | gnomAD v4 |
| 16 | g.16154932C>G | CA394875622 | ABCC6 | n.845G>C c.*154G>C (n.*154G>C) c.3982G>C (p.Val1328Leu) c.796G>C (p.Val266Leu) c.3607G>C (n.3607G>C) c.*1191G>C (n.*1191G>C) c.3949G>C (p.Val1317Leu) c.3640G>C (p.Val1214Leu) n.539-4849C>G n.3644G>C c.3814G>C (p.Val1272Leu) c.4018G>C (p.Val1340Leu) | |
| 16 | g.16154932C>T | CA394875624 | ABCC6 | n.845G>A c.*154G>A (n.*154G>A) c.3982G>A (p.Val1328Ile) c.796G>A (p.Val266Ile) c.3607G>A (n.3607G>A) c.*1191G>A (n.*1191G>A) c.3949G>A (p.Val1317Ile) c.3640G>A (p.Val1214Ile) n.539-4849C>T n.3644G>A c.3814G>A (p.Val1272Ile) c.4018G>A (p.Val1340Ile) | gnomAD v4 |
| 16 | g.16154933C>A | CA493797238 | ABCC6 | n.844G>T c.*153G>T (n.*153G>T) c.3981G>T (p.Gly1327=) c.795G>T (p.Gly265=) c.3606G>T (n.3606G>T) c.*1190G>T (n.*1190G>T) c.3948G>T (p.Gly1316=) c.3639G>T (p.Gly1213=) n.539-4848C>A n.3643G>T c.3813G>T (p.Gly1271=) c.4017G>T (p.Gly1339=) | gnomAD v4 |
| 16 | g.16154933C= | CA2210140934 | ABCC6 | n.844G= c.*153G= (n.*153G=) c.3981G= (p.Gly1327=) c.795G= (p.Gly265=) c.3606G= (n.3606G=) c.*1190G= (n.*1190G=) c.3948G= (p.Gly1316=) c.3639G= (p.Gly1213=) n.539-4848C= n.3643G= c.3813G= (p.Gly1271=) c.4017G= (p.Gly1339=) | |
| 16 | g.16154933C>G | CA493797240 | ABCC6 | n.844G>C c.*153G>C (n.*153G>C) c.3981G>C (p.Gly1327=) c.795G>C (p.Gly265=) c.3606G>C (n.3606G>C) c.*1190G>C (n.*1190G>C) c.3948G>C (p.Gly1316=) c.3639G>C (p.Gly1213=) n.539-4848C>G n.3643G>C c.3813G>C (p.Gly1271=) c.4017G>C (p.Gly1339=) | |
| 16 | g.16154933C>T | CA493797241 | ABCC6 | n.844G>A c.*153G>A (n.*153G>A) c.3981G>A (p.Gly1327=) c.795G>A (p.Gly265=) c.3606G>A (n.3606G>A) c.*1190G>A (n.*1190G>A) c.3948G>A (p.Gly1316=) c.3639G>A (p.Gly1213=) n.539-4848C>T n.3643G>A c.3813G>A (p.Gly1271=) c.4017G>A (p.Gly1339=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.16154934C>A | CA394875627 | ABCC6 | n.843G>T c.*152G>T (n.*152G>T) c.3980G>T (p.Gly1327Val) c.794G>T (p.Gly265Val) c.3605G>T (n.3605G>T) c.*1189G>T (n.*1189G>T) c.3947G>T (p.Gly1316Val) c.3638G>T (p.Gly1213Val) n.539-4847C>A n.3642G>T c.3812G>T (p.Gly1271Val) c.4016G>T (p.Gly1339Val) | gnomAD v4 |
| 16 | g.16154934C= | CA2210140938 | ABCC6 | n.843G= c.*152G= (n.*152G=) c.3980G= (p.Gly1327=) c.794G= (p.Gly265=) c.3605G= (n.3605G=) c.*1189G= (n.*1189G=) c.3947G= (p.Gly1316=) c.3638G= (p.Gly1213=) n.539-4847C= n.3642G= c.3812G= (p.Gly1271=) c.4016G= (p.Gly1339=) | |
| 16 | g.16154934C>G | CA394875629 | ABCC6 | n.843G>C c.*152G>C (n.*152G>C) c.3980G>C (p.Gly1327Ala) c.794G>C (p.Gly265Ala) c.3605G>C (n.3605G>C) c.*1189G>C (n.*1189G>C) c.3947G>C (p.Gly1316Ala) c.3638G>C (p.Gly1213Ala) n.539-4847C>G n.3642G>C c.3812G>C (p.Gly1271Ala) c.4016G>C (p.Gly1339Ala) | dbSNP gnomAD v4 |
| 16 | g.16154934C>T | CA7925361 | ABCC6 | n.843G>A c.*152G>A (n.*152G>A) c.3980G>A (p.Gly1327Glu) c.794G>A (p.Gly265Glu) c.3605G>A (n.3605G>A) c.*1189G>A (n.*1189G>A) c.3947G>A (p.Gly1316Glu) c.3638G>A (p.Gly1213Glu) n.539-4847C>T n.3642G>A c.3812G>A (p.Gly1271Glu) c.4016G>A (p.Gly1339Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154935C>A | CA394875633 | ABCC6 | n.842G>T c.*151G>T (n.*151G>T) c.3979G>T (p.Gly1327Trp) c.793G>T (p.Gly265Trp) c.3604G>T (n.3604G>T) c.*1188G>T (n.*1188G>T) c.3946G>T (p.Gly1316Trp) c.3637G>T (p.Gly1213Trp) n.539-4846C>A n.3641G>T c.3811G>T (p.Gly1271Trp) c.4015G>T (p.Gly1339Trp) | dbSNP gnomAD v4 |
| 16 | g.16154935C= | CA2210140943 | ABCC6 | n.842G= c.*151G= (n.*151G=) c.3979G= (p.Gly1327=) c.793G= (p.Gly265=) c.3604G= (n.3604G=) c.*1188G= (n.*1188G=) c.3946G= (p.Gly1316=) c.3637G= (p.Gly1213=) n.539-4846C= n.3641G= c.3811G= (p.Gly1271=) c.4015G= (p.Gly1339=) | |
| 16 | g.16154935C>G | CA394875635 | ABCC6 | n.842G>C c.*151G>C (n.*151G>C) c.3979G>C (p.Gly1327Arg) c.793G>C (p.Gly265Arg) c.3604G>C (n.3604G>C) c.*1188G>C (n.*1188G>C) c.3946G>C (p.Gly1316Arg) c.3637G>C (p.Gly1213Arg) n.539-4846C>G n.3641G>C c.3811G>C (p.Gly1271Arg) c.4015G>C (p.Gly1339Arg) | gnomAD v4 |
| 16 | g.16154935C>T | CA7925362 | ABCC6 | n.842G>A c.*151G>A (n.*151G>A) c.3979G>A (p.Gly1327Arg) c.793G>A (p.Gly265Arg) c.3604G>A (n.3604G>A) c.*1188G>A (n.*1188G>A) c.3946G>A (p.Gly1316Arg) c.3637G>A (p.Gly1213Arg) n.539-4846C>T n.3641G>A c.3811G>A (p.Gly1271Arg) c.4015G>A (p.Gly1339Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.16154936G>A | CA7925363 | ABCC6 | n.841C>T c.*150C>T (n.*150C>T) c.3978C>T (p.Asp1326=) c.792C>T (p.Asp264=) c.3603C>T (n.3603C>T) c.*1187C>T (n.*1187C>T) c.3945C>T (p.Asp1315=) c.3636C>T (p.Asp1212=) n.539-4845G>A n.3640C>T c.3810C>T (p.Asp1270=) c.4014C>T (p.Asp1338=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154936G>C | CA394875641 | ABCC6 | n.841C>G c.*150C>G (n.*150C>G) c.3978C>G (p.Asp1326Glu) c.792C>G (p.Asp264Glu) c.3603C>G (n.3603C>G) c.*1187C>G (n.*1187C>G) c.3945C>G (p.Asp1315Glu) c.3636C>G (p.Asp1212Glu) n.539-4845G>C n.3640C>G c.3810C>G (p.Asp1270Glu) c.4014C>G (p.Asp1338Glu) | |
| 16 | g.16154936G= | CA2210140946 | ABCC6 | n.841C= c.*150C= (n.*150C=) c.3978C= (p.Asp1326=) c.792C= (p.Asp264=) c.3603C= (n.3603C=) c.*1187C= (n.*1187C=) c.3945C= (p.Asp1315=) c.3636C= (p.Asp1212=) n.539-4845G= n.3640C= c.3810C= (p.Asp1270=) c.4014C= (p.Asp1338=) | |
| 16 | g.16154936G>T | CA394875643 | ABCC6 | n.841C>A c.*150C>A (n.*150C>A) c.3978C>A (p.Asp1326Glu) c.792C>A (p.Asp264Glu) c.3603C>A (n.3603C>A) c.*1187C>A (n.*1187C>A) c.3945C>A (p.Asp1315Glu) c.3636C>A (p.Asp1212Glu) n.539-4845G>T n.3640C>A c.3810C>A (p.Asp1270Glu) c.4014C>A (p.Asp1338Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.16154937T>A | CA394875645 | ABCC6 | n.840A>T c.*149A>T (n.*149A>T) c.3977A>T (p.Asp1326Val) c.791A>T (p.Asp264Val) c.3602A>T (n.3602A>T) c.*1186A>T (n.*1186A>T) c.3944A>T (p.Asp1315Val) c.3635A>T (p.Asp1212Val) n.539-4844T>A n.3639A>T c.3809A>T (p.Asp1270Val) c.4013A>T (p.Asp1338Val) | |
| 16 | g.16154937T>C | CA278625481 | ABCC6 | n.840A>G c.*149A>G (n.*149A>G) c.3977A>G (p.Asp1326Gly) c.791A>G (p.Asp264Gly) c.3602A>G (n.3602A>G) c.*1186A>G (n.*1186A>G) c.3944A>G (p.Asp1315Gly) c.3635A>G (p.Asp1212Gly) n.539-4844T>C n.3639A>G c.3809A>G (p.Asp1270Gly) c.4013A>G (p.Asp1338Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154937T>G | CA394875644 | ABCC6 | n.840A>C c.*149A>C (n.*149A>C) c.3977A>C (p.Asp1326Ala) c.791A>C (p.Asp264Ala) c.3602A>C (n.3602A>C) c.*1186A>C (n.*1186A>C) c.3944A>C (p.Asp1315Ala) c.3635A>C (p.Asp1212Ala) n.539-4844T>G n.3639A>C c.3809A>C (p.Asp1270Ala) c.4013A>C (p.Asp1338Ala) | |
| 16 | g.16154937T= | CA2210140948 | ABCC6 | n.840A= c.*149A= (n.*149A=) c.3977A= (p.Asp1326=) c.791A= (p.Asp264=) c.3602A= (n.3602A=) c.*1186A= (n.*1186A=) c.3944A= (p.Asp1315=) c.3635A= (p.Asp1212=) n.539-4844T= n.3639A= c.3809A= (p.Asp1270=) c.4013A= (p.Asp1338=) | |
| 16 | g.16154938C>A | CA394875647 | ABCC6 | n.839G>T c.*148G>T (n.*148G>T) c.3976G>T (p.Asp1326Tyr) c.790G>T (p.Asp264Tyr) c.3601G>T (n.3601G>T) c.*1185G>T (n.*1185G>T) c.3943G>T (p.Asp1315Tyr) c.3634G>T (p.Asp1212Tyr) n.539-4843C>A n.3638G>T c.3808G>T (p.Asp1270Tyr) c.4012G>T (p.Asp1338Tyr) | ClinVar dbSNP gnomAD v4 |
| 16 | g.16154938C= | CA2210140951 | ABCC6 | n.839G= c.*148G= (n.*148G=) c.3976G= (p.Asp1326=) c.790G= (p.Asp264=) c.3601G= (n.3601G=) c.*1185G= (n.*1185G=) c.3943G= (p.Asp1315=) c.3634G= (p.Asp1212=) n.539-4843C= n.3638G= c.3808G= (p.Asp1270=) c.4012G= (p.Asp1338=) | |
| 16 | g.16154938C>G | CA394875649 | ABCC6 | n.839G>C c.*148G>C (n.*148G>C) c.3976G>C (p.Asp1326His) c.790G>C (p.Asp264His) c.3601G>C (n.3601G>C) c.*1185G>C (n.*1185G>C) c.3943G>C (p.Asp1315His) c.3634G>C (p.Asp1212His) n.539-4843C>G n.3638G>C c.3808G>C (p.Asp1270His) c.4012G>C (p.Asp1338His) | |
| 16 | g.16154938C>T | CA7925364 | ABCC6 | n.839G>A c.*148G>A (n.*148G>A) c.3976G>A (p.Asp1326Asn) c.790G>A (p.Asp264Asn) c.3601G>A (n.3601G>A) c.*1185G>A (n.*1185G>A) c.3943G>A (p.Asp1315Asn) c.3634G>A (p.Asp1212Asn) n.539-4843C>T n.3638G>A c.3808G>A (p.Asp1270Asn) c.4012G>A (p.Asp1338Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154939G>A | CA7925365 | ABCC6 | n.838C>T c.*147C>T (n.*147C>T) c.3975C>T (p.Ile1325=) c.789C>T (p.Ile263=) c.3600C>T (n.3600C>T) c.*1184C>T (n.*1184C>T) c.3942C>T (p.Ile1314=) c.3633C>T (p.Ile1211=) n.539-4842G>A n.3637C>T c.3807C>T (p.Ile1269=) c.4011C>T (p.Ile1337=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16154939G>C | CA394875653 | ABCC6 | n.838C>G c.*147C>G (n.*147C>G) c.3975C>G (p.Ile1325Met) c.789C>G (p.Ile263Met) c.3600C>G (n.3600C>G) c.*1184C>G (n.*1184C>G) c.3942C>G (p.Ile1314Met) c.3633C>G (p.Ile1211Met) n.539-4842G>C n.3637C>G c.3807C>G (p.Ile1269Met) c.4011C>G (p.Ile1337Met) | gnomAD v4 |
| 16 | g.16154939G= | CA2210140954 | ABCC6 | n.838C= c.*147C= (n.*147C=) c.3975C= (p.Ile1325=) c.789C= (p.Ile263=) c.3600C= (n.3600C=) c.*1184C= (n.*1184C=) c.3942C= (p.Ile1314=) c.3633C= (p.Ile1211=) n.539-4842G= n.3637C= c.3807C= (p.Ile1269=) c.4011C= (p.Ile1337=) | |
| 16 | g.16154939G>T | CA493797254 | ABCC6 | n.838C>A c.*147C>A (n.*147C>A) c.3975C>A (p.Ile1325=) c.789C>A (p.Ile263=) c.3600C>A (n.3600C>A) c.*1184C>A (n.*1184C>A) c.3942C>A (p.Ile1314=) c.3633C>A (p.Ile1211=) n.539-4842G>T n.3637C>A c.3807C>A (p.Ile1269=) c.4011C>A (p.Ile1337=) | gnomAD v4 |
| 16 | g.16154940A>C | CA394875654 | ABCC6 | n.837T>G c.*146T>G (n.*146T>G) c.3974T>G (p.Ile1325Ser) c.788T>G (p.Ile263Ser) c.3599T>G (n.3599T>G) c.*1183T>G (n.*1183T>G) c.3941T>G (p.Ile1314Ser) c.3632T>G (p.Ile1211Ser) n.539-4841A>C n.3636T>G c.3806T>G (p.Ile1269Ser) c.4010T>G (p.Ile1337Ser) | |
| 16 | g.16154940A>G | CA394875658 | ABCC6 | n.837T>C c.*146T>C (n.*146T>C) c.3974T>C (p.Ile1325Thr) c.788T>C (p.Ile263Thr) c.3599T>C (n.3599T>C) c.*1183T>C (n.*1183T>C) c.3941T>C (p.Ile1314Thr) c.3632T>C (p.Ile1211Thr) n.539-4841A>G n.3636T>C c.3806T>C (p.Ile1269Thr) c.4010T>C (p.Ile1337Thr) | |
| 16 | g.16154940A>T | CA394875656 | ABCC6 | n.837T>A c.*146T>A (n.*146T>A) c.3974T>A (p.Ile1325Asn) c.788T>A (p.Ile263Asn) c.3599T>A (n.3599T>A) c.*1183T>A (n.*1183T>A) c.3941T>A (p.Ile1314Asn) c.3632T>A (p.Ile1211Asn) n.539-4841A>T n.3636T>A c.3806T>A (p.Ile1269Asn) c.4010T>A (p.Ile1337Asn) | |
| 16 | g.16154941T>A | CA394875661 | ABCC6 | n.836A>T c.*145A>T (n.*145A>T) c.3973A>T (p.Ile1325Phe) c.787A>T (p.Ile263Phe) c.3598A>T (n.3598A>T) c.*1182A>T (n.*1182A>T) c.3940A>T (p.Ile1314Phe) c.3631A>T (p.Ile1211Phe) n.539-4840T>A n.3635A>T c.3805A>T (p.Ile1269Phe) c.4009A>T (p.Ile1337Phe) | |
| 16 | g.16154941T>C | CA394875662 | ABCC6 | n.836A>G c.*145A>G (n.*145A>G) c.3973A>G (p.Ile1325Val) c.787A>G (p.Ile263Val) c.3598A>G (n.3598A>G) c.*1182A>G (n.*1182A>G) c.3940A>G (p.Ile1314Val) c.3631A>G (p.Ile1211Val) n.539-4840T>C n.3635A>G c.3805A>G (p.Ile1269Val) c.4009A>G (p.Ile1337Val) | dbSNP |
| 16 | g.16154941T>G | CA394875664 | ABCC6 | n.836A>C c.*145A>C (n.*145A>C) c.3973A>C (p.Ile1325Leu) c.787A>C (p.Ile263Leu) c.3598A>C (n.3598A>C) c.*1182A>C (n.*1182A>C) c.3940A>C (p.Ile1314Leu) c.3631A>C (p.Ile1211Leu) n.539-4840T>G n.3635A>C c.3805A>C (p.Ile1269Leu) c.4009A>C (p.Ile1337Leu) | |
| 16 | g.16154941T= | CA2210140955 | ABCC6 | n.836A= c.*145A= (n.*145A=) c.3973A= (p.Ile1325=) c.787A= (p.Ile263=) c.3598A= (n.3598A=) c.*1182A= (n.*1182A=) c.3940A= (p.Ile1314=) c.3631A= (p.Ile1211=) n.539-4840T= n.3635A= c.3805A= (p.Ile1269=) c.4009A= (p.Ile1337=) | |
| 16 | g.16154942C>A | CA394875667 | ABCC6 | n.835G>T c.*144G>T (n.*144G>T) c.3972G>T (p.Trp1324Cys) c.786G>T (p.Trp262Cys) c.3597G>T (n.3597G>T) c.*1181G>T (n.*1181G>T) c.3939G>T (p.Trp1313Cys) c.3630G>T (p.Trp1210Cys) n.539-4839C>A n.3634G>T c.3804G>T (p.Trp1268Cys) c.4008G>T (p.Trp1336Cys) | |
| 16 | g.16154942C>G | CA394875669 | ABCC6 | n.835G>C c.*144G>C (n.*144G>C) c.3972G>C (p.Trp1324Cys) c.786G>C (p.Trp262Cys) c.3597G>C (n.3597G>C) c.*1181G>C (n.*1181G>C) c.3939G>C (p.Trp1313Cys) c.3630G>C (p.Trp1210Cys) n.539-4839C>G n.3634G>C c.3804G>C (p.Trp1268Cys) c.4008G>C (p.Trp1336Cys) |