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 |
|---|---|---|---|---|---|
| 1 | g.223005590G>A | CA249345 | DISP1 | c.*3720G>A (n.*3720G>A) c.*3549G>A (n.*3549G>A) c.4193G>A (p.Ser1398Asn) c.*3526G>A (n.*3526G>A) c.3611G>A (p.Ser1204Asn) c.3464G>A (p.Ser1155Asn) | ClinVar dbSNP |
| 1 | g.223005590G>C | CA344693594 | DISP1 | c.*3720G>C (n.*3720G>C) c.*3549G>C (n.*3549G>C) c.4193G>C (p.Ser1398Thr) c.*3526G>C (n.*3526G>C) c.3611G>C (p.Ser1204Thr) c.3464G>C (p.Ser1155Thr) | |
| 1 | g.223005590G= | CA1223476793 | DISP1 | c.*3720G= (n.*3720G=) c.*3549G= (n.*3549G=) c.4193G= (p.Ser1398=) c.*3526G= (n.*3526G=) c.3611G= (p.Ser1204=) c.3464G= (p.Ser1155=) | |
| 1 | g.223005590G>T | CA344693593 | DISP1 | c.*3720G>T (n.*3720G>T) c.*3549G>T (n.*3549G>T) c.4193G>T (p.Ser1398Ile) c.*3526G>T (n.*3526G>T) c.3611G>T (p.Ser1204Ile) c.3464G>T (p.Ser1155Ile) | gnomAD v4 |
| 1 | g.223005591C>A | CA344693596 | DISP1 | c.*3721C>A (n.*3721C>A) c.*3550C>A (n.*3550C>A) c.4194C>A (p.Ser1398Arg) c.*3527C>A (n.*3527C>A) c.3612C>A (p.Ser1204Arg) c.3465C>A (p.Ser1155Arg) | |
| 1 | g.223005591C>G | CA344693598 | DISP1 | c.*3721C>G (n.*3721C>G) c.*3550C>G (n.*3550C>G) c.4194C>G (p.Ser1398Arg) c.*3527C>G (n.*3527C>G) c.3612C>G (p.Ser1204Arg) c.3465C>G (p.Ser1155Arg) | |
| 1 | g.223005591C>T | CA423724008 | DISP1 | c.*3721C>T (n.*3721C>T) c.*3550C>T (n.*3550C>T) c.4194C>T (p.Ser1398=) c.*3527C>T (n.*3527C>T) c.3612C>T (p.Ser1204=) c.3465C>T (p.Ser1155=) | |
| 1 | g.223005592A>C | CA344693600 | DISP1 | c.*3722A>C (n.*3722A>C) c.*3551A>C (n.*3551A>C) c.4195A>C (p.Thr1399Pro) c.*3528A>C (n.*3528A>C) c.3613A>C (p.Thr1205Pro) c.3466A>C (p.Thr1156Pro) | |
| 1 | g.223005592A>G | CA344693601 | DISP1 | c.*3722A>G (n.*3722A>G) c.*3551A>G (n.*3551A>G) c.4195A>G (p.Thr1399Ala) c.*3528A>G (n.*3528A>G) c.3613A>G (p.Thr1205Ala) c.3466A>G (p.Thr1156Ala) | |
| 1 | g.223005592A>T | CA344693602 | DISP1 | c.*3722A>T (n.*3722A>T) c.*3551A>T (n.*3551A>T) c.4195A>T (p.Thr1399Ser) c.*3528A>T (n.*3528A>T) c.3613A>T (p.Thr1205Ser) c.3466A>T (p.Thr1156Ser) | |
| 1 | g.223005593C>A | CA344693605 | DISP1 | c.*3723C>A (n.*3723C>A) c.*3552C>A (n.*3552C>A) c.4196C>A (p.Thr1399Asn) c.*3529C>A (n.*3529C>A) c.3614C>A (p.Thr1205Asn) c.3467C>A (p.Thr1156Asn) | |
| 1 | g.223005593C= | CA1144898244 | DISP1 | c.*3723C= (n.*3723C=) c.*3552C= (n.*3552C=) c.4196C= (p.Thr1399=) c.*3529C= (n.*3529C=) c.3614C= (p.Thr1205=) c.3467C= (p.Thr1156=) | |
| 1 | g.223005593C>G | CA344693608 | DISP1 | c.*3723C>G (n.*3723C>G) c.*3552C>G (n.*3552C>G) c.4196C>G (p.Thr1399Ser) c.*3529C>G (n.*3529C>G) c.3614C>G (p.Thr1205Ser) c.3467C>G (p.Thr1156Ser) | |
| 1 | g.223005593C>T | CA1409551 | DISP1 | c.*3723C>T (n.*3723C>T) c.*3552C>T (n.*3552C>T) c.4196C>T (p.Thr1399Ile) c.*3529C>T (n.*3529C>T) c.3614C>T (p.Thr1205Ile) c.3467C>T (p.Thr1156Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005594T>A | CA423724018 | DISP1 | c.*3724T>A (n.*3724T>A) c.*3553T>A (n.*3553T>A) c.4197T>A (p.Thr1399=) c.*3530T>A (n.*3530T>A) c.3615T>A (p.Thr1205=) c.3468T>A (p.Thr1156=) | |
| 1 | g.223005594T>C | CA423724021 | DISP1 | c.*3724T>C (n.*3724T>C) c.*3553T>C (n.*3553T>C) c.4197T>C (p.Thr1399=) c.*3530T>C (n.*3530T>C) c.3615T>C (p.Thr1205=) c.3468T>C (p.Thr1156=) | |
| 1 | g.223005594T>G | CA423724022 | DISP1 | c.*3724T>G (n.*3724T>G) c.*3553T>G (n.*3553T>G) c.4197T>G (p.Thr1399=) c.*3530T>G (n.*3530T>G) c.3615T>G (p.Thr1205=) c.3468T>G (p.Thr1156=) | |
| 1 | g.223005595G>A | CA344693613 | DISP1 | c.*3725G>A (n.*3725G>A) c.*3554G>A (n.*3554G>A) c.4198G>A (p.Gly1400Arg) c.*3531G>A (n.*3531G>A) c.3616G>A (p.Gly1206Arg) c.3469G>A (p.Gly1157Arg) | |
| 1 | g.223005595G>C | CA344693615 | DISP1 | c.*3725G>C (n.*3725G>C) c.*3554G>C (n.*3554G>C) c.4198G>C (p.Gly1400Arg) c.*3531G>C (n.*3531G>C) c.3616G>C (p.Gly1206Arg) c.3469G>C (p.Gly1157Arg) | |
| 1 | g.223005595G>T | CA344693617 | DISP1 | c.*3725G>T (n.*3725G>T) c.*3554G>T (n.*3554G>T) c.4198G>T (p.Gly1400Ter) c.*3531G>T (n.*3531G>T) c.3616G>T (p.Gly1206Ter) c.3469G>T (p.Gly1157Ter) | |
| 1 | g.223005596G>A | CA344693623 | DISP1 | c.*3726G>A (n.*3726G>A) c.*3555G>A (n.*3555G>A) c.4199G>A (p.Gly1400Glu) c.*3532G>A (n.*3532G>A) c.3617G>A (p.Gly1206Glu) c.3470G>A (p.Gly1157Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005596G>C | CA1409552 | DISP1 | c.*3726G>C (n.*3726G>C) c.*3555G>C (n.*3555G>C) c.4199G>C (p.Gly1400Ala) c.*3532G>C (n.*3532G>C) c.3617G>C (p.Gly1206Ala) c.3470G>C (p.Gly1157Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.223005596G= | CA1223476794 | DISP1 | c.*3726G= (n.*3726G=) c.*3555G= (n.*3555G=) c.4199G= (p.Gly1400=) c.*3532G= (n.*3532G=) c.3617G= (p.Gly1206=) c.3470G= (p.Gly1157=) | |
| 1 | g.223005596G>T | CA344693620 | DISP1 | c.*3726G>T (n.*3726G>T) c.*3555G>T (n.*3555G>T) c.4199G>T (p.Gly1400Val) c.*3532G>T (n.*3532G>T) c.3617G>T (p.Gly1206Val) c.3470G>T (p.Gly1157Val) | gnomAD v4 |
| 1 | g.223005597A>C | CA423724032 | DISP1 | c.*3727A>C (n.*3727A>C) c.*3556A>C (n.*3556A>C) c.4200A>C (p.Gly1400=) c.*3533A>C (n.*3533A>C) c.3618A>C (p.Gly1206=) c.3471A>C (p.Gly1157=) | |
| 1 | g.223005597A>G | CA423724038 | DISP1 | c.*3727A>G (n.*3727A>G) c.*3556A>G (n.*3556A>G) c.4200A>G (p.Gly1400=) c.*3533A>G (n.*3533A>G) c.3618A>G (p.Gly1206=) c.3471A>G (p.Gly1157=) | |
| 1 | g.223005597A>T | CA423724040 | DISP1 | c.*3727A>T (n.*3727A>T) c.*3556A>T (n.*3556A>T) c.4200A>T (p.Gly1400=) c.*3533A>T (n.*3533A>T) c.3618A>T (p.Gly1206=) c.3471A>T (p.Gly1157=) | gnomAD v4 |
| 1 | g.223005598T>A | CA344693629 | DISP1 | c.*3728T>A (n.*3728T>A) c.*3557T>A (n.*3557T>A) c.4201T>A (p.Ser1401Thr) c.*3534T>A (n.*3534T>A) c.3619T>A (p.Ser1207Thr) c.3472T>A (p.Ser1158Thr) | |
| 1 | g.223005598T>C | CA344693637 | DISP1 | c.*3728T>C (n.*3728T>C) c.*3557T>C (n.*3557T>C) c.4201T>C (p.Ser1401Pro) c.*3534T>C (n.*3534T>C) c.3619T>C (p.Ser1207Pro) c.3472T>C (p.Ser1158Pro) | |
| 1 | g.223005598T>G | CA344693638 | DISP1 | c.*3728T>G (n.*3728T>G) c.*3557T>G (n.*3557T>G) c.4201T>G (p.Ser1401Ala) c.*3534T>G (n.*3534T>G) c.3619T>G (p.Ser1207Ala) c.3472T>G (p.Ser1158Ala) | |
| 1 | g.223005599C>A | CA344693642 | DISP1 | c.*3729C>A (n.*3729C>A) c.*3558C>A (n.*3558C>A) c.4202C>A (p.Ser1401Ter) c.*3535C>A (n.*3535C>A) c.3620C>A (p.Ser1207Ter) c.3473C>A (p.Ser1158Ter) | |
| 1 | g.223005599C= | CA1223476795 | DISP1 | c.*3729C= (n.*3729C=) c.*3558C= (n.*3558C=) c.4202C= (p.Ser1401=) c.*3535C= (n.*3535C=) c.3620C= (p.Ser1207=) c.3473C= (p.Ser1158=) | |
| 1 | g.223005599C>G | CA344693643 | DISP1 | c.*3729C>G (n.*3729C>G) c.*3558C>G (n.*3558C>G) c.4202C>G (p.Ser1401Trp) c.*3535C>G (n.*3535C>G) c.3620C>G (p.Ser1207Trp) c.3473C>G (p.Ser1158Trp) | |
| 1 | g.223005599C>T | CA344693646 | DISP1 | c.*3729C>T (n.*3729C>T) c.*3558C>T (n.*3558C>T) c.4202C>T (p.Ser1401Leu) c.*3535C>T (n.*3535C>T) c.3620C>T (p.Ser1207Leu) c.3473C>T (p.Ser1158Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.223005600G>A | CA38410474 | DISP1 | c.*3730G>A (n.*3730G>A) c.*3559G>A (n.*3559G>A) c.4203G>A (p.Ser1401=) c.*3536G>A (n.*3536G>A) c.3621G>A (p.Ser1207=) c.3474G>A (p.Ser1158=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005600G>C | CA423724043 | DISP1 | c.*3730G>C (n.*3730G>C) c.*3559G>C (n.*3559G>C) c.4203G>C (p.Ser1401=) c.*3536G>C (n.*3536G>C) c.3621G>C (p.Ser1207=) c.3474G>C (p.Ser1158=) | |
| 1 | g.223005600G= | CA1223476796 | DISP1 | c.*3730G= (n.*3730G=) c.*3559G= (n.*3559G=) c.4203G= (p.Ser1401=) c.*3536G= (n.*3536G=) c.3621G= (p.Ser1207=) c.3474G= (p.Ser1158=) | |
| 1 | g.223005600G>T | CA423724045 | DISP1 | c.*3730G>T (n.*3730G>T) c.*3559G>T (n.*3559G>T) c.4203G>T (p.Ser1401=) c.*3536G>T (n.*3536G>T) c.3621G>T (p.Ser1207=) c.3474G>T (p.Ser1158=) | |
| 1 | g.223005601T>A | CA344693649 | DISP1 | c.*3731T>A (n.*3731T>A) c.*3560T>A (n.*3560T>A) c.4204T>A (p.Leu1402Ile) c.*3537T>A (n.*3537T>A) c.3622T>A (p.Leu1208Ile) c.3475T>A (p.Leu1159Ile) | |
| 1 | g.223005601T>C | CA423724048 | DISP1 | c.*3731T>C (n.*3731T>C) c.*3560T>C (n.*3560T>C) c.4204T>C (p.Leu1402=) c.*3537T>C (n.*3537T>C) c.3622T>C (p.Leu1208=) c.3475T>C (p.Leu1159=) | |
| 1 | g.223005601T>G | CA344693650 | DISP1 | c.*3731T>G (n.*3731T>G) c.*3560T>G (n.*3560T>G) c.4204T>G (p.Leu1402Val) c.*3537T>G (n.*3537T>G) c.3622T>G (p.Leu1208Val) c.3475T>G (p.Leu1159Val) | |
| 1 | g.223005602T>A | CA344693652 | DISP1 | c.*3732T>A (n.*3732T>A) c.*3561T>A (n.*3561T>A) c.4205T>A (p.Leu1402Ter) c.*3538T>A (n.*3538T>A) c.3623T>A (p.Leu1208Ter) c.3476T>A (p.Leu1159Ter) | |
| 1 | g.223005602T>C | CA344693654 | DISP1 | c.*3732T>C (n.*3732T>C) c.*3561T>C (n.*3561T>C) c.4205T>C (p.Leu1402Ser) c.*3538T>C (n.*3538T>C) c.3623T>C (p.Leu1208Ser) c.3476T>C (p.Leu1159Ser) | |
| 1 | g.223005602T>G | CA344693655 | DISP1 | c.*3732T>G (n.*3732T>G) c.*3561T>G (n.*3561T>G) c.4205T>G (p.Leu1402Ter) c.*3538T>G (n.*3538T>G) c.3623T>G (p.Leu1208Ter) c.3476T>G (p.Leu1159Ter) | |
| 1 | g.223005602T= | CA1223476797 | DISP1 | c.*3732T= (n.*3732T=) c.*3561T= (n.*3561T=) c.4205T= (p.Leu1402=) c.*3538T= (n.*3538T=) c.3623T= (p.Leu1208=) c.3476T= (p.Leu1159=) | |
| 1 | g.223005603A= | CA1223476798 | DISP1 | c.*3733A= (n.*3733A=) c.*3562A= (n.*3562A=) c.4206A= (p.Leu1402=) c.*3539A= (n.*3539A=) c.3624A= (p.Leu1208=) c.3477A= (p.Leu1159=) | |
| 1 | g.223005603A>C | CA344693659 | DISP1 | c.*3733A>C (n.*3733A>C) c.*3562A>C (n.*3562A>C) c.4206A>C (p.Leu1402Phe) c.*3539A>C (n.*3539A>C) c.3624A>C (p.Leu1208Phe) c.3477A>C (p.Leu1159Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.223005603A>G | CA423724058 | DISP1 | c.*3733A>G (n.*3733A>G) c.*3562A>G (n.*3562A>G) c.4206A>G (p.Leu1402=) c.*3539A>G (n.*3539A>G) c.3624A>G (p.Leu1208=) c.3477A>G (p.Leu1159=) | |
| 1 | g.223005603A>T | CA344693662 | DISP1 | c.*3733A>T (n.*3733A>T) c.*3562A>T (n.*3562A>T) c.4206A>T (p.Leu1402Phe) c.*3539A>T (n.*3539A>T) c.3624A>T (p.Leu1208Phe) c.3477A>T (p.Leu1159Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005603dup | CA1409553 | DISP1 | c.*3733dup (n.*3733dup) c.*3562dup (n.*3562dup) c.4206dup (p.Leu1403ThrfsTer10) c.*3539dup (n.*3539dup) c.3624dup (p.Leu1209ThrfsTer10) c.3477dup (p.Leu1160ThrfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.223005604C>A | CA344693666 | DISP1 | c.*3734C>A (n.*3734C>A) c.*3563C>A (n.*3563C>A) c.4207C>A (p.Leu1403Ile) c.*3540C>A (n.*3540C>A) c.3625C>A (p.Leu1209Ile) c.3478C>A (p.Leu1160Ile) | |
| 1 | g.223005604C= | CA1223476799 | DISP1 | c.*3734C= (n.*3734C=) c.*3563C= (n.*3563C=) c.4207C= (p.Leu1403=) c.*3540C= (n.*3540C=) c.3625C= (p.Leu1209=) c.3478C= (p.Leu1160=) | |
| 1 | g.223005604C>G | CA344693667 | DISP1 | c.*3734C>G (n.*3734C>G) c.*3563C>G (n.*3563C>G) c.4207C>G (p.Leu1403Val) c.*3540C>G (n.*3540C>G) c.3625C>G (p.Leu1209Val) c.3478C>G (p.Leu1160Val) | |
| 1 | g.223005604C>T | CA344693664 | DISP1 | c.*3734C>T (n.*3734C>T) c.*3563C>T (n.*3563C>T) c.4207C>T (p.Leu1403Phe) c.*3540C>T (n.*3540C>T) c.3625C>T (p.Leu1209Phe) c.3478C>T (p.Leu1160Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005605T>A | CA344693680 | DISP1 | c.*3735T>A (n.*3735T>A) c.*3564T>A (n.*3564T>A) c.4208T>A (p.Leu1403His) c.*3541T>A (n.*3541T>A) c.3626T>A (p.Leu1209His) c.3479T>A (p.Leu1160His) | |
| 1 | g.223005605T>C | CA344693679 | DISP1 | c.*3735T>C (n.*3735T>C) c.*3564T>C (n.*3564T>C) c.4208T>C (p.Leu1403Pro) c.*3541T>C (n.*3541T>C) c.3626T>C (p.Leu1209Pro) c.3479T>C (p.Leu1160Pro) | |
| 1 | g.223005605T>G | CA344693681 | DISP1 | c.*3735T>G (n.*3735T>G) c.*3564T>G (n.*3564T>G) c.4208T>G (p.Leu1403Arg) c.*3541T>G (n.*3541T>G) c.3626T>G (p.Leu1209Arg) c.3479T>G (p.Leu1160Arg) | |
| 1 | g.223005606C>A | CA423724071 | DISP1 | c.*3736C>A (n.*3736C>A) c.*3565C>A (n.*3565C>A) c.4209C>A (p.Leu1403=) c.*3542C>A (n.*3542C>A) c.3627C>A (p.Leu1209=) c.3480C>A (p.Leu1160=) | |
| 1 | g.223005606C= | CA1223476800 | DISP1 | c.*3736C= (n.*3736C=) c.*3565C= (n.*3565C=) c.4209C= (p.Leu1403=) c.*3542C= (n.*3542C=) c.3627C= (p.Leu1209=) c.3480C= (p.Leu1160=) | |
| 1 | g.223005606C>G | CA423724069 | DISP1 | c.*3736C>G (n.*3736C>G) c.*3565C>G (n.*3565C>G) c.4209C>G (p.Leu1403=) c.*3542C>G (n.*3542C>G) c.3627C>G (p.Leu1209=) c.3480C>G (p.Leu1160=) | |
| 1 | g.223005606C>T | CA423724070 | DISP1 | c.*3736C>T (n.*3736C>T) c.*3565C>T (n.*3565C>T) c.4209C>T (p.Leu1403=) c.*3542C>T (n.*3542C>T) c.3627C>T (p.Leu1209=) c.3480C>T (p.Leu1160=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005607A>C | CA344693683 | DISP1 | c.*3737A>C (n.*3737A>C) c.*3566A>C (n.*3566A>C) c.4210A>C (p.Lys1404Gln) c.*3543A>C (n.*3543A>C) c.3628A>C (p.Lys1210Gln) c.3481A>C (p.Lys1161Gln) | |
| 1 | g.223005607A>G | CA344693690 | DISP1 | c.*3737A>G (n.*3737A>G) c.*3566A>G (n.*3566A>G) c.4210A>G (p.Lys1404Glu) c.*3543A>G (n.*3543A>G) c.3628A>G (p.Lys1210Glu) c.3481A>G (p.Lys1161Glu) | |
| 1 | g.223005607A>T | CA344693692 | DISP1 | c.*3737A>T (n.*3737A>T) c.*3566A>T (n.*3566A>T) c.4210A>T (p.Lys1404Ter) c.*3543A>T (n.*3543A>T) c.3628A>T (p.Lys1210Ter) c.3481A>T (p.Lys1161Ter) | |
| 1 | g.223005610dup | CA732023516 | DISP1 | c.*3740dup (n.*3740dup) c.*3569dup (n.*3569dup) c.4213dup (p.Thr1405AsnfsTer8) c.*3546dup (n.*3546dup) c.3631dup (p.Thr1211AsnfsTer8) c.3484dup (p.Thr1162AsnfsTer8) | dbSNP |
| 1 | g.223005608A= | CA1223476801 | DISP1 | c.*3738A= (n.*3738A=) c.*3567A= (n.*3567A=) c.4211A= (p.Lys1404=) c.*3544A= (n.*3544A=) c.3629A= (p.Lys1210=) c.3482A= (p.Lys1161=) | |
| 1 | g.223005608A>C | CA344693696 | DISP1 | c.*3738A>C (n.*3738A>C) c.*3567A>C (n.*3567A>C) c.4211A>C (p.Lys1404Thr) c.*3544A>C (n.*3544A>C) c.3629A>C (p.Lys1210Thr) c.3482A>C (p.Lys1161Thr) | |
| 1 | g.223005608A>G | CA344693699 | DISP1 | c.*3738A>G (n.*3738A>G) c.*3567A>G (n.*3567A>G) c.4211A>G (p.Lys1404Arg) c.*3544A>G (n.*3544A>G) c.3629A>G (p.Lys1210Arg) c.3482A>G (p.Lys1161Arg) | |
| 1 | g.223005608A>T | CA344693700 | DISP1 | c.*3738A>T (n.*3738A>T) c.*3567A>T (n.*3567A>T) c.4211A>T (p.Lys1404Ile) c.*3544A>T (n.*3544A>T) c.3629A>T (p.Lys1210Ile) c.3482A>T (p.Lys1161Ile) | |
| 1 | g.223005608_223005617dup | CA2650627504 | DISP1 | c.*3738_*3747dup (n.*3738_*3747dup) c.*3567_*3576dup (n.*3567_*3576dup) c.4211_4220dup (p.Cys1407Ter) c.*3544_*3553dup (n.*3544_*3553dup) c.3629_3638dup (p.Cys1213Ter) c.3482_3491dup (p.Cys1164Ter) | gnomAD v4 |
| 1 | g.223005608_223005609insTG | CA529462439 | DISP1 | c.*3738_*3739insTG (n.*3738_*3739insTG) c.*3567_*3568insTG (n.*3567_*3568insTG) c.4211_4212insTG (p.Lys1404AsnfsTer20) c.*3544_*3545insTG (n.*3544_*3545insTG) c.3629_3630insTG (p.Lys1210AsnfsTer20) c.3482_3483insTG (p.Lys1161AsnfsTer20) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005609A= | CA1223476802 | DISP1 | c.*3739A= (n.*3739A=) c.*3568A= (n.*3568A=) c.4212A= (p.Lys1404=) c.*3545A= (n.*3545A=) c.3630A= (p.Lys1210=) c.3483A= (p.Lys1161=) | |
| 1 | g.223005609A>C | CA344693702 | DISP1 | c.*3739A>C (n.*3739A>C) c.*3568A>C (n.*3568A>C) c.4212A>C (p.Lys1404Asn) c.*3545A>C (n.*3545A>C) c.3630A>C (p.Lys1210Asn) c.3483A>C (p.Lys1161Asn) | |
| 1 | g.223005609A>G | CA423724079 | DISP1 | c.*3739A>G (n.*3739A>G) c.*3568A>G (n.*3568A>G) c.4212A>G (p.Lys1404=) c.*3545A>G (n.*3545A>G) c.3630A>G (p.Lys1210=) c.3483A>G (p.Lys1161=) | |
| 1 | g.223005609A>T | CA344693705 | DISP1 | c.*3739A>T (n.*3739A>T) c.*3568A>T (n.*3568A>T) c.4212A>T (p.Lys1404Asn) c.*3545A>T (n.*3545A>T) c.3630A>T (p.Lys1210Asn) c.3483A>T (p.Lys1161Asn) | |
| 1 | g.223005609_223005610insT | CA529462440 | DISP1 | c.*3739_*3740insT (n.*3739_*3740insT) c.*3568_*3569insT (n.*3568_*3569insT) c.4212_4213insT (p.Thr1405TyrfsTer8) c.*3545_*3546insT (n.*3545_*3546insT) c.3630_3631insT (p.Thr1211TyrfsTer8) c.3483_3484insT (p.Thr1162TyrfsTer8) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005610A>C | CA344693706 | DISP1 | c.*3740A>C (n.*3740A>C) c.*3569A>C (n.*3569A>C) c.4213A>C (p.Thr1405Pro) c.*3546A>C (n.*3546A>C) c.3631A>C (p.Thr1211Pro) c.3484A>C (p.Thr1162Pro) | |
| 1 | g.223005610A>G | CA344693707 | DISP1 | c.*3740A>G (n.*3740A>G) c.*3569A>G (n.*3569A>G) c.4213A>G (p.Thr1405Ala) c.*3546A>G (n.*3546A>G) c.3631A>G (p.Thr1211Ala) c.3484A>G (p.Thr1162Ala) | |
| 1 | g.223005610A>T | CA344693708 | DISP1 | c.*3740A>T (n.*3740A>T) c.*3569A>T (n.*3569A>T) c.4213A>T (p.Thr1405Ser) c.*3546A>T (n.*3546A>T) c.3631A>T (p.Thr1211Ser) c.3484A>T (p.Thr1162Ser) | |
| 1 | g.223005611C>A | CA344693711 | DISP1 | c.*3741C>A (n.*3741C>A) c.*3570C>A (n.*3570C>A) c.4214C>A (p.Thr1405Lys) c.*3547C>A (n.*3547C>A) c.3632C>A (p.Thr1211Lys) c.3485C>A (p.Thr1162Lys) | gnomAD v4 |
| 1 | g.223005611C= | CA1223476803 | DISP1 | c.*3741C= (n.*3741C=) c.*3570C= (n.*3570C=) c.4214C= (p.Thr1405=) c.*3547C= (n.*3547C=) c.3632C= (p.Thr1211=) c.3485C= (p.Thr1162=) | |
| 1 | g.223005611C>G | CA344693709 | DISP1 | c.*3741C>G (n.*3741C>G) c.*3570C>G (n.*3570C>G) c.4214C>G (p.Thr1405Arg) c.*3547C>G (n.*3547C>G) c.3632C>G (p.Thr1211Arg) c.3485C>G (p.Thr1162Arg) | gnomAD v4 |
| 1 | g.223005611C>T | CA1409554 | DISP1 | c.*3741C>T (n.*3741C>T) c.*3570C>T (n.*3570C>T) c.4214C>T (p.Thr1405Met) c.*3547C>T (n.*3547C>T) c.3632C>T (p.Thr1211Met) c.3485C>T (p.Thr1162Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.223005612G>A | CA1409555 | DISP1 | c.*3742G>A (n.*3742G>A) c.*3571G>A (n.*3571G>A) c.4215G>A (p.Thr1405=) c.*3548G>A (n.*3548G>A) c.3633G>A (p.Thr1211=) c.3486G>A (p.Thr1162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005612G>C | CA423724088 | DISP1 | c.*3742G>C (n.*3742G>C) c.*3571G>C (n.*3571G>C) c.4215G>C (p.Thr1405=) c.*3548G>C (n.*3548G>C) c.3633G>C (p.Thr1211=) c.3486G>C (p.Thr1162=) | |
| 1 | g.223005612G= | CA1140725466 | DISP1 | c.*3742G= (n.*3742G=) c.*3571G= (n.*3571G=) c.4215G= (p.Thr1405=) c.*3548G= (n.*3548G=) c.3633G= (p.Thr1211=) c.3486G= (p.Thr1162=) | |
| 1 | g.223005612G>T | CA423724089 | DISP1 | c.*3742G>T (n.*3742G>T) c.*3571G>T (n.*3571G>T) c.4215G>T (p.Thr1405=) c.*3548G>T (n.*3548G>T) c.3633G>T (p.Thr1211=) c.3486G>T (p.Thr1162=) | ClinVar gnomAD v4 |
| 1 | g.223005613T>A | CA344693718 | DISP1 | c.*3743T>A (n.*3743T>A) c.*3572T>A (n.*3572T>A) c.4216T>A (p.Cys1406Ser) c.*3549T>A (n.*3549T>A) c.3634T>A (p.Cys1212Ser) c.3487T>A (p.Cys1163Ser) | |
| 1 | g.223005613T>C | CA344693719 | DISP1 | c.*3743T>C (n.*3743T>C) c.*3572T>C (n.*3572T>C) c.4216T>C (p.Cys1406Arg) c.*3549T>C (n.*3549T>C) c.3634T>C (p.Cys1212Arg) c.3487T>C (p.Cys1163Arg) | |
| 1 | g.223005613T>G | CA344693720 | DISP1 | c.*3743T>G (n.*3743T>G) c.*3572T>G (n.*3572T>G) c.4216T>G (p.Cys1406Gly) c.*3549T>G (n.*3549T>G) c.3634T>G (p.Cys1212Gly) c.3487T>G (p.Cys1163Gly) | |
| 1 | g.223005613_223005616del | CA1012678911 | DISP1 | c.*3743_*3746del (n.*3743_*3746del) c.*3572_*3575del (n.*3572_*3575del) c.4216_4219del (p.Cys1406AlafsTer16) c.*3549_*3552del (n.*3549_*3552del) c.3634_3637del (p.Cys1212AlafsTer16) c.3487_3490del (p.Cys1163AlafsTer16) | gnomAD v3 gnomAD v4 |
| 1 | g.223005614del | CA2650627505 | DISP1 | c.*3744del (n.*3744del) c.*3573del (n.*3573del) c.4217del (p.Cys1406PhefsTer17) c.*3550del (n.*3550del) c.3635del (p.Cys1212PhefsTer17) c.3488del (p.Cys1163PhefsTer17) | gnomAD v4 |
| 1 | g.223005614G>A | CA1409556 | DISP1 | c.*3744G>A (n.*3744G>A) c.*3573G>A (n.*3573G>A) c.4217G>A (p.Cys1406Tyr) c.*3550G>A (n.*3550G>A) c.3635G>A (p.Cys1212Tyr) c.3488G>A (p.Cys1163Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005614G>C | CA38410491 | DISP1 | c.*3744G>C (n.*3744G>C) c.*3573G>C (n.*3573G>C) c.4217G>C (p.Cys1406Ser) c.*3550G>C (n.*3550G>C) c.3635G>C (p.Cys1212Ser) c.3488G>C (p.Cys1163Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005614G= | CA1143876513 | DISP1 | c.*3744G= (n.*3744G=) c.*3573G= (n.*3573G=) c.4217G= (p.Cys1406=) c.*3550G= (n.*3550G=) c.3635G= (p.Cys1212=) c.3488G= (p.Cys1163=) | |
| 1 | g.223005614G>T | CA38410498 | DISP1 | c.*3744G>T (n.*3744G>T) c.*3573G>T (n.*3573G>T) c.4217G>T (p.Cys1406Phe) c.*3550G>T (n.*3550G>T) c.3635G>T (p.Cys1212Phe) c.3488G>T (p.Cys1163Phe) | dbSNP gnomAD v4 |
| 1 | g.223005615T>A | CA344693725 | DISP1 | c.*3745T>A (n.*3745T>A) c.*3574T>A (n.*3574T>A) c.4218T>A (p.Cys1406Ter) c.*3551T>A (n.*3551T>A) c.3636T>A (p.Cys1212Ter) c.3489T>A (p.Cys1163Ter) | |
| 1 | g.223005615T>C | CA423724092 | DISP1 | c.*3745T>C (n.*3745T>C) c.*3574T>C (n.*3574T>C) c.4218T>C (p.Cys1406=) c.*3551T>C (n.*3551T>C) c.3636T>C (p.Cys1212=) c.3489T>C (p.Cys1163=) | |
| 1 | g.223005615T>G | CA344693728 | DISP1 | c.*3745T>G (n.*3745T>G) c.*3574T>G (n.*3574T>G) c.4218T>G (p.Cys1406Trp) c.*3551T>G (n.*3551T>G) c.3636T>G (p.Cys1212Trp) c.3489T>G (p.Cys1163Trp) | |
| 1 | g.223005616T>A | CA344693731 | DISP1 | c.*3746T>A (n.*3746T>A) c.*3575T>A (n.*3575T>A) c.4219T>A (p.Cys1407Ser) c.*3552T>A (n.*3552T>A) c.3637T>A (p.Cys1213Ser) c.3490T>A (p.Cys1164Ser) | gnomAD v4 |
| 1 | g.223005616T>C | CA344693732 | DISP1 | c.*3746T>C (n.*3746T>C) c.*3575T>C (n.*3575T>C) c.4219T>C (p.Cys1407Arg) c.*3552T>C (n.*3552T>C) c.3637T>C (p.Cys1213Arg) c.3490T>C (p.Cys1164Arg) | |
| 1 | g.223005616T>G | CA344693735 | DISP1 | c.*3746T>G (n.*3746T>G) c.*3575T>G (n.*3575T>G) c.4219T>G (p.Cys1407Gly) c.*3552T>G (n.*3552T>G) c.3637T>G (p.Cys1213Gly) c.3490T>G (p.Cys1164Gly) | |
| 1 | g.223005617G>A | CA344693738 | DISP1 | c.*3747G>A (n.*3747G>A) c.*3576G>A (n.*3576G>A) c.4220G>A (p.Cys1407Tyr) c.*3553G>A (n.*3553G>A) c.3638G>A (p.Cys1213Tyr) c.3491G>A (p.Cys1164Tyr) | gnomAD v4 |
| 1 | g.223005617G>C | CA344693740 | DISP1 | c.*3747G>C (n.*3747G>C) c.*3576G>C (n.*3576G>C) c.4220G>C (p.Cys1407Ser) c.*3553G>C (n.*3553G>C) c.3638G>C (p.Cys1213Ser) c.3491G>C (p.Cys1164Ser) | |
| 1 | g.223005617G>T | CA344693737 | DISP1 | c.*3747G>T (n.*3747G>T) c.*3576G>T (n.*3576G>T) c.4220G>T (p.Cys1407Phe) c.*3553G>T (n.*3553G>T) c.3638G>T (p.Cys1213Phe) c.3491G>T (p.Cys1164Phe) | |
| 1 | g.223005618C>A | CA344693743 | DISP1 | c.*3748C>A (n.*3748C>A) c.*3577C>A (n.*3577C>A) c.4221C>A (p.Cys1407Ter) c.*3554C>A (n.*3554C>A) c.3639C>A (p.Cys1213Ter) c.3492C>A (p.Cys1164Ter) | |
| 1 | g.223005618C= | CA1223476804 | DISP1 | c.*3748C= (n.*3748C=) c.*3577C= (n.*3577C=) c.4221C= (p.Cys1407=) c.*3554C= (n.*3554C=) c.3639C= (p.Cys1213=) c.3492C= (p.Cys1164=) | |
| 1 | g.223005618C>G | CA344693744 | DISP1 | c.*3748C>G (n.*3748C>G) c.*3577C>G (n.*3577C>G) c.4221C>G (p.Cys1407Trp) c.*3554C>G (n.*3554C>G) c.3639C>G (p.Cys1213Trp) c.3492C>G (p.Cys1164Trp) | |
| 1 | g.223005618C>T | CA1409557 | DISP1 | c.*3748C>T (n.*3748C>T) c.*3577C>T (n.*3577C>T) c.4221C>T (p.Cys1407=) c.*3554C>T (n.*3554C>T) c.3639C>T (p.Cys1213=) c.3492C>T (p.Cys1164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005619G>A | CA1409558 | DISP1 | c.*3749G>A (n.*3749G>A) c.*3578G>A (n.*3578G>A) c.4222G>A (p.Asp1408Asn) c.*3555G>A (n.*3555G>A) c.3640G>A (p.Asp1214Asn) c.3493G>A (p.Asp1165Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.223005619G>C | CA344693750 | DISP1 | c.*3749G>C (n.*3749G>C) c.*3578G>C (n.*3578G>C) c.4222G>C (p.Asp1408His) c.*3555G>C (n.*3555G>C) c.3640G>C (p.Asp1214His) c.3493G>C (p.Asp1165His) | gnomAD v4 |
| 1 | g.223005619G= | CA1144093731 | DISP1 | c.*3749G= (n.*3749G=) c.*3578G= (n.*3578G=) c.4222G= (p.Asp1408=) c.*3555G= (n.*3555G=) c.3640G= (p.Asp1214=) c.3493G= (p.Asp1165=) | |
| 1 | g.223005619G>T | CA38410527 | DISP1 | c.*3749G>T (n.*3749G>T) c.*3578G>T (n.*3578G>T) c.4222G>T (p.Asp1408Tyr) c.*3555G>T (n.*3555G>T) c.3640G>T (p.Asp1214Tyr) c.3493G>T (p.Asp1165Tyr) | dbSNP |
| 1 | g.223005620A= | CA1223476805 | DISP1 | c.*3750A= (n.*3750A=) c.*3579A= (n.*3579A=) c.4223A= (p.Asp1408=) c.*3556A= (n.*3556A=) c.3641A= (p.Asp1214=) c.3494A= (p.Asp1165=) | |
| 1 | g.223005620A>C | CA344693759 | DISP1 | c.*3750A>C (n.*3750A>C) c.*3579A>C (n.*3579A>C) c.4223A>C (p.Asp1408Ala) c.*3556A>C (n.*3556A>C) c.3641A>C (p.Asp1214Ala) c.3494A>C (p.Asp1165Ala) | |
| 1 | g.223005620A>G | CA1409559 | DISP1 | c.*3750A>G (n.*3750A>G) c.*3579A>G (n.*3579A>G) c.4223A>G (p.Asp1408Gly) c.*3556A>G (n.*3556A>G) c.3641A>G (p.Asp1214Gly) c.3494A>G (p.Asp1165Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.223005620A>T | CA344693756 | DISP1 | c.*3750A>T (n.*3750A>T) c.*3579A>T (n.*3579A>T) c.4223A>T (p.Asp1408Val) c.*3556A>T (n.*3556A>T) c.3641A>T (p.Asp1214Val) c.3494A>T (p.Asp1165Val) | |
| 1 | g.223005621C>A | CA344693761 | DISP1 | c.*3751C>A (n.*3751C>A) c.*3580C>A (n.*3580C>A) c.4224C>A (p.Asp1408Glu) c.*3557C>A (n.*3557C>A) c.3642C>A (p.Asp1214Glu) c.3495C>A (p.Asp1165Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.223005621C= | CA1223476806 | DISP1 | c.*3751C= (n.*3751C=) c.*3580C= (n.*3580C=) c.4224C= (p.Asp1408=) c.*3557C= (n.*3557C=) c.3642C= (p.Asp1214=) c.3495C= (p.Asp1165=) | |
| 1 | g.223005621C>G | CA344693764 | DISP1 | c.*3751C>G (n.*3751C>G) c.*3580C>G (n.*3580C>G) c.4224C>G (p.Asp1408Glu) c.*3557C>G (n.*3557C>G) c.3642C>G (p.Asp1214Glu) c.3495C>G (p.Asp1165Glu) | |
| 1 | g.223005621C>T | CA423724107 | DISP1 | c.*3751C>T (n.*3751C>T) c.*3580C>T (n.*3580C>T) c.4224C>T (p.Asp1408=) c.*3557C>T (n.*3557C>T) c.3642C>T (p.Asp1214=) c.3495C>T (p.Asp1165=) | dbSNP gnomAD v4 |
| 1 | g.223005622C>A | CA344693768 | DISP1 | c.*3752C>A (n.*3752C>A) c.*3581C>A (n.*3581C>A) c.4225C>A (p.Pro1409Thr) c.*3558C>A (n.*3558C>A) c.3643C>A (p.Pro1215Thr) c.3496C>A (p.Pro1166Thr) | gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.223005622C= | CA1223476807 | DISP1 | c.*3752C= (n.*3752C=) c.*3581C= (n.*3581C=) c.4225C= (p.Pro1409=) c.*3558C= (n.*3558C=) c.3643C= (p.Pro1215=) c.3496C= (p.Pro1166=) | |
| 1 | g.223005622C>G | CA344693770 | DISP1 | c.*3752C>G (n.*3752C>G) c.*3581C>G (n.*3581C>G) c.4225C>G (p.Pro1409Ala) c.*3558C>G (n.*3558C>G) c.3643C>G (p.Pro1215Ala) c.3496C>G (p.Pro1166Ala) | |
| 1 | g.223005622C>T | CA344693771 | DISP1 | c.*3752C>T (n.*3752C>T) c.*3581C>T (n.*3581C>T) c.4225C>T (p.Pro1409Ser) c.*3558C>T (n.*3558C>T) c.3643C>T (p.Pro1215Ser) c.3496C>T (p.Pro1166Ser) | |
| 1 | g.223005622_223005623insA | CA529462441 | DISP1 | c.*3752_*3753insA (n.*3752_*3753insA) c.*3581_*3582insA (n.*3581_*3582insA) c.4225_4226insA (p.Pro1409HisfsTer4) c.*3558_*3559insA (n.*3558_*3559insA) c.3643_3644insA (p.Pro1215HisfsTer4) c.3496_3497insA (p.Pro1166HisfsTer4) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005623C>A | CA344693772 | DISP1 | c.*3753C>A (n.*3753C>A) c.*3582C>A (n.*3582C>A) c.4226C>A (p.Pro1409His) c.*3559C>A (n.*3559C>A) c.3644C>A (p.Pro1215His) c.3497C>A (p.Pro1166His) | |
| 1 | g.223005623C= | CA1223476808 | DISP1 | c.*3753C= (n.*3753C=) c.*3582C= (n.*3582C=) c.4226C= (p.Pro1409=) c.*3559C= (n.*3559C=) c.3644C= (p.Pro1215=) c.3497C= (p.Pro1166=) | |
| 1 | g.223005623C>G | CA344693774 | DISP1 | c.*3753C>G (n.*3753C>G) c.*3582C>G (n.*3582C>G) c.4226C>G (p.Pro1409Arg) c.*3559C>G (n.*3559C>G) c.3644C>G (p.Pro1215Arg) c.3497C>G (p.Pro1166Arg) | |
| 1 | g.223005623C>T | CA38410547 | DISP1 | c.*3753C>T (n.*3753C>T) c.*3582C>T (n.*3582C>T) c.4226C>T (p.Pro1409Leu) c.*3559C>T (n.*3559C>T) c.3644C>T (p.Pro1215Leu) c.3497C>T (p.Pro1166Leu) | dbSNP |
| 1 | g.223005624C>A | CA423724115 | DISP1 | c.*3754C>A (n.*3754C>A) c.*3583C>A (n.*3583C>A) c.4227C>A (p.Pro1409=) c.*3560C>A (n.*3560C>A) c.3645C>A (p.Pro1215=) c.3498C>A (p.Pro1166=) | |
| 1 | g.223005624C= | CA1143736021 | DISP1 | c.*3754C= (n.*3754C=) c.*3583C= (n.*3583C=) c.4227C= (p.Pro1409=) c.*3560C= (n.*3560C=) c.3645C= (p.Pro1215=) c.3498C= (p.Pro1166=) | |
| 1 | g.223005624C>G | CA423724116 | DISP1 | c.*3754C>G (n.*3754C>G) c.*3583C>G (n.*3583C>G) c.4227C>G (p.Pro1409=) c.*3560C>G (n.*3560C>G) c.3645C>G (p.Pro1215=) c.3498C>G (p.Pro1166=) | |
| 1 | g.223005624C>T | CA1409560 | DISP1 | c.*3754C>T (n.*3754C>T) c.*3583C>T (n.*3583C>T) c.4227C>T (p.Pro1409=) c.*3560C>T (n.*3560C>T) c.3645C>T (p.Pro1215=) c.3498C>T (p.Pro1166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005625G>A | CA1409561 | DISP1 | c.*3755G>A (n.*3755G>A) c.*3584G>A (n.*3584G>A) c.4228G>A (p.Glu1410Lys) c.*3561G>A (n.*3561G>A) c.3646G>A (p.Glu1216Lys) c.3499G>A (p.Glu1167Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.223005625G>C | CA344693780 | DISP1 | c.*3755G>C (n.*3755G>C) c.*3584G>C (n.*3584G>C) c.4228G>C (p.Glu1410Gln) c.*3561G>C (n.*3561G>C) c.3646G>C (p.Glu1216Gln) c.3499G>C (p.Glu1167Gln) | |
| 1 | g.223005625G= | CA1142247237 | DISP1 | c.*3755G= (n.*3755G=) c.*3584G= (n.*3584G=) c.4228G= (p.Glu1410=) c.*3561G= (n.*3561G=) c.3646G= (p.Glu1216=) c.3499G= (p.Glu1167=) | |
| 1 | g.223005625G>T | CA344693783 | DISP1 | c.*3755G>T (n.*3755G>T) c.*3584G>T (n.*3584G>T) c.4228G>T (p.Glu1410Ter) c.*3561G>T (n.*3561G>T) c.3646G>T (p.Glu1216Ter) c.3499G>T (p.Glu1167Ter) | |
| 1 | g.223005626A>C | CA344693786 | DISP1 | c.*3756A>C (n.*3756A>C) c.*3585A>C (n.*3585A>C) c.4229A>C (p.Glu1410Ala) c.*3562A>C (n.*3562A>C) c.3647A>C (p.Glu1216Ala) c.3500A>C (p.Glu1167Ala) | |
| 1 | g.223005626A>G | CA344693788 | DISP1 | c.*3756A>G (n.*3756A>G) c.*3585A>G (n.*3585A>G) c.4229A>G (p.Glu1410Gly) c.*3562A>G (n.*3562A>G) c.3647A>G (p.Glu1216Gly) c.3500A>G (p.Glu1167Gly) | |
| 1 | g.223005626A>T | CA344693790 | DISP1 | c.*3756A>T (n.*3756A>T) c.*3585A>T (n.*3585A>T) c.4229A>T (p.Glu1410Val) c.*3562A>T (n.*3562A>T) c.3647A>T (p.Glu1216Val) c.3500A>T (p.Glu1167Val) | |
| 1 | g.223005627G>A | CA423724121 | DISP1 | c.*3757G>A (n.*3757G>A) c.*3586G>A (n.*3586G>A) c.4230G>A (p.Glu1410=) c.*3563G>A (n.*3563G>A) c.3648G>A (p.Glu1216=) c.3501G>A (p.Glu1167=) | |
| 1 | g.223005627G>C | CA344693793 | DISP1 | c.*3757G>C (n.*3757G>C) c.*3586G>C (n.*3586G>C) c.4230G>C (p.Glu1410Asp) c.*3563G>C (n.*3563G>C) c.3648G>C (p.Glu1216Asp) c.3501G>C (p.Glu1167Asp) | |
| 1 | g.223005627G>T | CA344693796 | DISP1 | c.*3757G>T (n.*3757G>T) c.*3586G>T (n.*3586G>T) c.4230G>T (p.Glu1410Asp) c.*3563G>T (n.*3563G>T) c.3648G>T (p.Glu1216Asp) c.3501G>T (p.Glu1167Asp) | COSMIC |
| 1 | g.223005628A>C | CA344693798 | DISP1 | c.*3758A>C (n.*3758A>C) c.*3587A>C (n.*3587A>C) c.4231A>C (p.Asn1411His) c.*3564A>C (n.*3564A>C) c.3649A>C (p.Asn1217His) c.3502A>C (p.Asn1168His) | |
| 1 | g.223005628A>G | CA344693801 | DISP1 | c.*3758A>G (n.*3758A>G) c.*3587A>G (n.*3587A>G) c.4231A>G (p.Asn1411Asp) c.*3564A>G (n.*3564A>G) c.3649A>G (p.Asn1217Asp) c.3502A>G (p.Asn1168Asp) | |
| 1 | g.223005628A>T | CA344693803 | DISP1 | c.*3758A>T (n.*3758A>T) c.*3587A>T (n.*3587A>T) c.4231A>T (p.Asn1411Tyr) c.*3564A>T (n.*3564A>T) c.3649A>T (p.Asn1217Tyr) c.3502A>T (p.Asn1168Tyr) | |
| 1 | g.223005629A= | CA1223476809 | DISP1 | c.*3759A= (n.*3759A=) c.*3588A= (n.*3588A=) c.4232A= (p.Asn1411=) c.*3565A= (n.*3565A=) c.3650A= (p.Asn1217=) c.3503A= (p.Asn1168=) | |
| 1 | g.223005629A>C | CA344693811 | DISP1 | c.*3759A>C (n.*3759A>C) c.*3588A>C (n.*3588A>C) c.4232A>C (p.Asn1411Thr) c.*3565A>C (n.*3565A>C) c.3650A>C (p.Asn1217Thr) c.3503A>C (p.Asn1168Thr) | |
| 1 | g.223005629A>G | CA38410593 | DISP1 | c.*3759A>G (n.*3759A>G) c.*3588A>G (n.*3588A>G) c.4232A>G (p.Asn1411Ser) c.*3565A>G (n.*3565A>G) c.3650A>G (p.Asn1217Ser) c.3503A>G (p.Asn1168Ser) | dbSNP |
| 1 | g.223005629A>T | CA344693807 | DISP1 | c.*3759A>T (n.*3759A>T) c.*3588A>T (n.*3588A>T) c.4232A>T (p.Asn1411Ile) c.*3565A>T (n.*3565A>T) c.3650A>T (p.Asn1217Ile) c.3503A>T (p.Asn1168Ile) | |
| 1 | g.223005630T>A | CA344693813 | DISP1 | c.*3760T>A (n.*3760T>A) c.*3589T>A (n.*3589T>A) c.4233T>A (p.Asn1411Lys) c.*3566T>A (n.*3566T>A) c.3651T>A (p.Asn1217Lys) c.3504T>A (p.Asn1168Lys) | |
| 1 | g.223005630T>C | CA423724128 | DISP1 | c.*3760T>C (n.*3760T>C) c.*3589T>C (n.*3589T>C) c.4233T>C (p.Asn1411=) c.*3566T>C (n.*3566T>C) c.3651T>C (p.Asn1217=) c.3504T>C (p.Asn1168=) | gnomAD v4 |
| 1 | g.223005630T>G | CA344693816 | DISP1 | c.*3760T>G (n.*3760T>G) c.*3589T>G (n.*3589T>G) c.4233T>G (p.Asn1411Lys) c.*3566T>G (n.*3566T>G) c.3651T>G (p.Asn1217Lys) c.3504T>G (p.Asn1168Lys) | |
| 1 | g.223005630_223005634delinsTAAAC | CA1223476810 | DISP1 | c.*3760_*3764delinsTAAAC (n.*3760_*3764delinsTAAAC) c.*3589_*3593delinsTAAAC (n.*3589_*3593delinsTAAAC) c.4233_4237delinsTAAAC (p.Asn1411=) c.*3566_*3570delinsTAAAC (n.*3566_*3570delinsTAAAC) c.3651_3655delinsTAAAC (p.Asn1217=) c.3504_3508delinsTAAAC (p.Asn1168=) | |
| 1 | g.223005631A>C | CA344693821 | DISP1 | c.*3761A>C (n.*3761A>C) c.*3590A>C (n.*3590A>C) c.4234A>C (p.Lys1412Gln) c.*3567A>C (n.*3567A>C) c.3652A>C (p.Lys1218Gln) c.3505A>C (p.Lys1169Gln) | |
| 1 | g.223005631A>G | CA344693823 | DISP1 | c.*3761A>G (n.*3761A>G) c.*3590A>G (n.*3590A>G) c.4234A>G (p.Lys1412Glu) c.*3567A>G (n.*3567A>G) c.3652A>G (p.Lys1218Glu) c.3505A>G (p.Lys1169Glu) | |
| 1 | g.223005631A>T | CA344693825 | DISP1 | c.*3761A>T (n.*3761A>T) c.*3590A>T (n.*3590A>T) c.4234A>T (p.Lys1412Ter) c.*3567A>T (n.*3567A>T) c.3652A>T (p.Lys1218Ter) c.3505A>T (p.Lys1169Ter) | |
| 1 | g.223005634_223005637del | CA1409562 | DISP1 | c.*3764_*3767del (n.*3764_*3767del) c.*3593_*3596del (n.*3593_*3596del) c.4237_4240del (p.Gln1413GlyfsTer9) c.*3570_*3573del (n.*3570_*3573del) c.3655_3658del (p.Gln1219GlyfsTer9) c.3508_3511del (p.Gln1170GlyfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005632A>C | CA344693835 | DISP1 | c.*3762A>C (n.*3762A>C) c.*3591A>C (n.*3591A>C) c.4235A>C (p.Lys1412Thr) c.*3568A>C (n.*3568A>C) c.3653A>C (p.Lys1218Thr) c.3506A>C (p.Lys1169Thr) | |
| 1 | g.223005632A>G | CA344693834 | DISP1 | c.*3762A>G (n.*3762A>G) c.*3591A>G (n.*3591A>G) c.4235A>G (p.Lys1412Arg) c.*3568A>G (n.*3568A>G) c.3653A>G (p.Lys1218Arg) c.3506A>G (p.Lys1169Arg) | |
| 1 | g.223005632A>T | CA344693831 | DISP1 | c.*3762A>T (n.*3762A>T) c.*3591A>T (n.*3591A>T) c.4235A>T (p.Lys1412Ile) c.*3568A>T (n.*3568A>T) c.3653A>T (p.Lys1218Ile) c.3506A>T (p.Lys1169Ile) | |
| 1 | g.223005633A= | CA1223476811 | DISP1 | c.*3763A= (n.*3763A=) c.*3592A= (n.*3592A=) c.4236A= (p.Lys1412=) c.*3569A= (n.*3569A=) c.3654A= (p.Lys1218=) c.3507A= (p.Lys1169=) | |
| 1 | g.223005633A>C | CA344693838 | DISP1 | c.*3763A>C (n.*3763A>C) c.*3592A>C (n.*3592A>C) c.4236A>C (p.Lys1412Asn) c.*3569A>C (n.*3569A>C) c.3654A>C (p.Lys1218Asn) c.3507A>C (p.Lys1169Asn) | |
| 1 | g.223005633A>G | CA423724152 | DISP1 | c.*3763A>G (n.*3763A>G) c.*3592A>G (n.*3592A>G) c.4236A>G (p.Lys1412=) c.*3569A>G (n.*3569A>G) c.3654A>G (p.Lys1218=) c.3507A>G (p.Lys1169=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.223005633A>T | CA344693841 | DISP1 | c.*3763A>T (n.*3763A>T) c.*3592A>T (n.*3592A>T) c.4236A>T (p.Lys1412Asn) c.*3569A>T (n.*3569A>T) c.3654A>T (p.Lys1218Asn) c.3507A>T (p.Lys1169Asn) | |
| 1 | g.223005634C>A | CA344693843 | DISP1 | c.*3764C>A (n.*3764C>A) c.*3593C>A (n.*3593C>A) c.4237C>A (p.Gln1413Lys) c.*3570C>A (n.*3570C>A) c.3655C>A (p.Gln1219Lys) c.3508C>A (p.Gln1170Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005634C= | CA1223476812 | DISP1 | c.*3764C= (n.*3764C=) c.*3593C= (n.*3593C=) c.4237C= (p.Gln1413=) c.*3570C= (n.*3570C=) c.3655C= (p.Gln1219=) c.3508C= (p.Gln1170=) | |
| 1 | g.223005634C>G | CA344693845 | DISP1 | c.*3764C>G (n.*3764C>G) c.*3593C>G (n.*3593C>G) c.4237C>G (p.Gln1413Glu) c.*3570C>G (n.*3570C>G) c.3655C>G (p.Gln1219Glu) c.3508C>G (p.Gln1170Glu) | |
| 1 | g.223005634C>T | CA344693848 | DISP1 | c.*3764C>T (n.*3764C>T) c.*3593C>T (n.*3593C>T) c.4237C>T (p.Gln1413Ter) c.*3570C>T (n.*3570C>T) c.3655C>T (p.Gln1219Ter) c.3508C>T (p.Gln1170Ter) | |
| 1 | g.223005635A>C | CA344693851 | DISP1 | c.*3765A>C (n.*3765A>C) c.*3594A>C (n.*3594A>C) c.4238A>C (p.Gln1413Pro) c.*3571A>C (n.*3571A>C) c.3656A>C (p.Gln1219Pro) c.3509A>C (p.Gln1170Pro) | |
| 1 | g.223005635A>G | CA344693854 | DISP1 | c.*3765A>G (n.*3765A>G) c.*3594A>G (n.*3594A>G) c.4238A>G (p.Gln1413Arg) c.*3571A>G (n.*3571A>G) c.3656A>G (p.Gln1219Arg) c.3509A>G (p.Gln1170Arg) | gnomAD v4 |
| 1 | g.223005635A>T | CA344693853 | DISP1 | c.*3765A>T (n.*3765A>T) c.*3594A>T (n.*3594A>T) c.4238A>T (p.Gln1413Leu) c.*3571A>T (n.*3571A>T) c.3656A>T (p.Gln1219Leu) c.3509A>T (p.Gln1170Leu) | |
| 1 | g.223005636A>C | CA344693858 | DISP1 | c.*3766A>C (n.*3766A>C) c.*3595A>C (n.*3595A>C) c.4239A>C (p.Gln1413His) c.*3572A>C (n.*3572A>C) c.3657A>C (p.Gln1219His) c.3510A>C (p.Gln1170His) | |
| 1 | g.223005636A>G | CA423724164 | DISP1 | c.*3766A>G (n.*3766A>G) c.*3595A>G (n.*3595A>G) c.4239A>G (p.Gln1413=) c.*3572A>G (n.*3572A>G) c.3657A>G (p.Gln1219=) c.3510A>G (p.Gln1170=) | |
| 1 | g.223005636A>T | CA344693860 | DISP1 | c.*3766A>T (n.*3766A>T) c.*3595A>T (n.*3595A>T) c.4239A>T (p.Gln1413His) c.*3572A>T (n.*3572A>T) c.3657A>T (p.Gln1219His) c.3510A>T (p.Gln1170His) | |
| 1 | g.223005637A>C | CA423724169 | DISP1 | c.*3767A>C (n.*3767A>C) c.*3596A>C (n.*3596A>C) c.4240A>C (p.Arg1414=) c.*3573A>C (n.*3573A>C) c.3658A>C (p.Arg1220=) c.3511A>C (p.Arg1171=) | |
| 1 | g.223005637A>G | CA344693861 | DISP1 | c.*3767A>G (n.*3767A>G) c.*3596A>G (n.*3596A>G) c.4240A>G (p.Arg1414Gly) c.*3573A>G (n.*3573A>G) c.3658A>G (p.Arg1220Gly) c.3511A>G (p.Arg1171Gly) | |
| 1 | g.223005637A>T | CA344693863 | DISP1 | c.*3767A>T (n.*3767A>T) c.*3596A>T (n.*3596A>T) c.4240A>T (p.Arg1414Trp) c.*3573A>T (n.*3573A>T) c.3658A>T (p.Arg1220Trp) c.3511A>T (p.Arg1171Trp) | |
| 1 | g.223005638G>A | CA38410597 | DISP1 | c.*3768G>A (n.*3768G>A) c.*3597G>A (n.*3597G>A) c.4241G>A (p.Arg1414Lys) c.*3574G>A (n.*3574G>A) c.3659G>A (p.Arg1220Lys) c.3512G>A (p.Arg1171Lys) | dbSNP gnomAD v4 |
| 1 | g.223005638G>C | CA344693869 | DISP1 | c.*3768G>C (n.*3768G>C) c.*3597G>C (n.*3597G>C) c.4241G>C (p.Arg1414Thr) c.*3574G>C (n.*3574G>C) c.3659G>C (p.Arg1220Thr) c.3512G>C (p.Arg1171Thr) | |
| 1 | g.223005638G= | CA1223476813 | DISP1 | c.*3768G= (n.*3768G=) c.*3597G= (n.*3597G=) c.4241G= (p.Arg1414=) c.*3574G= (n.*3574G=) c.3659G= (p.Arg1220=) c.3512G= (p.Arg1171=) | |
| 1 | g.223005638G>T | CA344693871 | DISP1 | c.*3768G>T (n.*3768G>T) c.*3597G>T (n.*3597G>T) c.4241G>T (p.Arg1414Met) c.*3574G>T (n.*3574G>T) c.3659G>T (p.Arg1220Met) c.3512G>T (p.Arg1171Met) | COSMIC |
| 1 | g.223005639G>A | CA423724176 | DISP1 | c.*3769G>A (n.*3769G>A) c.*3598G>A (n.*3598G>A) c.4242G>A (p.Arg1414=) c.*3575G>A (n.*3575G>A) c.3660G>A (p.Arg1220=) c.3513G>A (p.Arg1171=) | |
| 1 | g.223005639G>C | CA344693874 | DISP1 | c.*3769G>C (n.*3769G>C) c.*3598G>C (n.*3598G>C) c.4242G>C (p.Arg1414Ser) c.*3575G>C (n.*3575G>C) c.3660G>C (p.Arg1220Ser) c.3513G>C (p.Arg1171Ser) | |
| 1 | g.223005639G>T | CA344693875 | DISP1 | c.*3769G>T (n.*3769G>T) c.*3598G>T (n.*3598G>T) c.4242G>T (p.Arg1414Ser) c.*3575G>T (n.*3575G>T) c.3660G>T (p.Arg1220Ser) c.3513G>T (p.Arg1171Ser) | |
| 1 | g.223005640G>A | CA344693877 | DISP1 | c.*3770G>A (n.*3770G>A) c.*3599G>A (n.*3599G>A) c.4243G>A (p.Glu1415Lys) c.*3576G>A (n.*3576G>A) c.3661G>A (p.Glu1221Lys) c.3514G>A (p.Glu1172Lys) | gnomAD v4 |
| 1 | g.223005640G>C | CA344693880 | DISP1 | c.*3770G>C (n.*3770G>C) c.*3599G>C (n.*3599G>C) c.4243G>C (p.Glu1415Gln) c.*3576G>C (n.*3576G>C) c.3661G>C (p.Glu1221Gln) c.3514G>C (p.Glu1172Gln) | |
| 1 | g.223005640G>T | CA344693882 | DISP1 | c.*3770G>T (n.*3770G>T) c.*3599G>T (n.*3599G>T) c.4243G>T (p.Glu1415Ter) c.*3576G>T (n.*3576G>T) c.3661G>T (p.Glu1221Ter) c.3514G>T (p.Glu1172Ter) | |
| 1 | g.223005641A>C | CA344693885 | DISP1 | c.*3771A>C (n.*3771A>C) c.*3600A>C (n.*3600A>C) c.4244A>C (p.Glu1415Ala) c.*3577A>C (n.*3577A>C) c.3662A>C (p.Glu1221Ala) c.3515A>C (p.Glu1172Ala) | |
| 1 | g.223005641A>G | CA344693891 | DISP1 | c.*3771A>G (n.*3771A>G) c.*3600A>G (n.*3600A>G) c.4244A>G (p.Glu1415Gly) c.*3577A>G (n.*3577A>G) c.3662A>G (p.Glu1221Gly) c.3515A>G (p.Glu1172Gly) | gnomAD v4 |
| 1 | g.223005641A>T | CA344693888 | DISP1 | c.*3771A>T (n.*3771A>T) c.*3600A>T (n.*3600A>T) c.4244A>T (p.Glu1415Val) c.*3577A>T (n.*3577A>T) c.3662A>T (p.Glu1221Val) c.3515A>T (p.Glu1172Val) | |
| 1 | g.223005642A= | CA1223476814 | DISP1 | c.*3772A= (n.*3772A=) c.*3601A= (n.*3601A=) c.4245A= (p.Glu1415=) c.*3578A= (n.*3578A=) c.3663A= (p.Glu1221=) c.3516A= (p.Glu1172=) | |
| 1 | g.223005642A>C | CA1409563 | DISP1 | c.*3772A>C (n.*3772A>C) c.*3601A>C (n.*3601A>C) c.4245A>C (p.Glu1415Asp) c.*3578A>C (n.*3578A>C) c.3663A>C (p.Glu1221Asp) c.3516A>C (p.Glu1172Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.223005642A>G | CA423724195 | DISP1 | c.*3772A>G (n.*3772A>G) c.*3601A>G (n.*3601A>G) c.4245A>G (p.Glu1415=) c.*3578A>G (n.*3578A>G) c.3663A>G (p.Glu1221=) c.3516A>G (p.Glu1172=) | |
| 1 | g.223005642A>T | CA344693897 | DISP1 | c.*3772A>T (n.*3772A>T) c.*3601A>T (n.*3601A>T) c.4245A>T (p.Glu1415Asp) c.*3578A>T (n.*3578A>T) c.3663A>T (p.Glu1221Asp) c.3516A>T (p.Glu1172Asp) | |
| 1 | g.223005643C>A | CA344693900 | DISP1 | c.*3773C>A (n.*3773C>A) c.*3602C>A (n.*3602C>A) c.4246C>A (p.Leu1416Ile) c.*3579C>A (n.*3579C>A) c.3664C>A (p.Leu1222Ile) c.3517C>A (p.Leu1173Ile) | |
| 1 | g.223005643C>G | CA344693901 | DISP1 | c.*3773C>G (n.*3773C>G) c.*3602C>G (n.*3602C>G) c.4246C>G (p.Leu1416Val) c.*3579C>G (n.*3579C>G) c.3664C>G (p.Leu1222Val) c.3517C>G (p.Leu1173Val) | |
| 1 | g.223005643C>T | CA344693903 | DISP1 | c.*3773C>T (n.*3773C>T) c.*3602C>T (n.*3602C>T) c.4246C>T (p.Leu1416Phe) c.*3579C>T (n.*3579C>T) c.3664C>T (p.Leu1222Phe) c.3517C>T (p.Leu1173Phe) | gnomAD v4 |
| 1 | g.223005644T>A | CA344693911 | DISP1 | c.*3774T>A (n.*3774T>A) c.*3603T>A (n.*3603T>A) c.4247T>A (p.Leu1416His) c.*3580T>A (n.*3580T>A) c.3665T>A (p.Leu1222His) c.3518T>A (p.Leu1173His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.223005644T>C | CA344693909 | DISP1 | c.*3774T>C (n.*3774T>C) c.*3603T>C (n.*3603T>C) c.4247T>C (p.Leu1416Pro) c.*3580T>C (n.*3580T>C) c.3665T>C (p.Leu1222Pro) c.3518T>C (p.Leu1173Pro) | |
| 1 | g.223005644T>G | CA344693907 | DISP1 | c.*3774T>G (n.*3774T>G) c.*3603T>G (n.*3603T>G) c.4247T>G (p.Leu1416Arg) c.*3580T>G (n.*3580T>G) c.3665T>G (p.Leu1222Arg) c.3518T>G (p.Leu1173Arg) | |
| 1 | g.223005644T= | CA1223476815 | DISP1 | c.*3774T= (n.*3774T=) c.*3603T= (n.*3603T=) c.4247T= (p.Leu1416=) c.*3580T= (n.*3580T=) c.3665T= (p.Leu1222=) c.3518T= (p.Leu1173=) | |
| 1 | g.223005645C>A | CA423724204 | DISP1 | c.*3775C>A (n.*3775C>A) c.*3604C>A (n.*3604C>A) c.4248C>A (p.Leu1416=) c.*3581C>A (n.*3581C>A) c.3666C>A (p.Leu1222=) c.3519C>A (p.Leu1173=) | |
| 1 | g.223005645C>G | CA423724205 | DISP1 | c.*3775C>G (n.*3775C>G) c.*3604C>G (n.*3604C>G) c.4248C>G (p.Leu1416=) c.*3581C>G (n.*3581C>G) c.3666C>G (p.Leu1222=) c.3519C>G (p.Leu1173=) | |
| 1 | g.223005645C>T | CA423724206 | DISP1 | c.*3775C>T (n.*3775C>T) c.*3604C>T (n.*3604C>T) c.4248C>T (p.Leu1416=) c.*3581C>T (n.*3581C>T) c.3666C>T (p.Leu1222=) c.3519C>T (p.Leu1173=) | |
| 1 | g.223005646T>A | CA344693915 | DISP1 | c.*3776T>A (n.*3776T>A) c.*3605T>A (n.*3605T>A) c.4249T>A (p.Cys1417Ser) c.*3582T>A (n.*3582T>A) c.3667T>A (p.Cys1223Ser) c.3520T>A (p.Cys1174Ser) | |
| 1 | g.223005646T>C | CA1409564 | DISP1 | c.*3776T>C (n.*3776T>C) c.*3605T>C (n.*3605T>C) c.4249T>C (p.Cys1417Arg) c.*3582T>C (n.*3582T>C) c.3667T>C (p.Cys1223Arg) c.3520T>C (p.Cys1174Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.223005646T>G | CA344693919 | DISP1 | c.*3776T>G (n.*3776T>G) c.*3605T>G (n.*3605T>G) c.4249T>G (p.Cys1417Gly) c.*3582T>G (n.*3582T>G) c.3667T>G (p.Cys1223Gly) c.3520T>G (p.Cys1174Gly) | dbSNP gnomAD v4 |
| 1 | g.223005646T= | CA1142719048 | DISP1 | c.*3776T= (n.*3776T=) c.*3605T= (n.*3605T=) c.4249T= (p.Cys1417=) c.*3582T= (n.*3582T=) c.3667T= (p.Cys1223=) c.3520T= (p.Cys1174=) | |
| 1 | g.223005647_223005648del | CA2650627506 | DISP1 | c.*3777_*3778del (n.*3777_*3778del) c.*3606_*3607del (n.*3606_*3607del) c.4250_4251del (p.Cys1417Ter) c.*3583_*3584del (n.*3583_*3584del) c.3668_3669del (p.Cys1223Ter) c.3521_3522del (p.Cys1174Ter) | gnomAD v4 |
| 1 | g.223005647G>A | CA344693921 | DISP1 | c.*3777G>A (n.*3777G>A) c.*3606G>A (n.*3606G>A) c.4250G>A (p.Cys1417Tyr) c.*3583G>A (n.*3583G>A) c.3668G>A (p.Cys1223Tyr) c.3521G>A (p.Cys1174Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.223005647G>C | CA344693924 | DISP1 | c.*3777G>C (n.*3777G>C) c.*3606G>C (n.*3606G>C) c.4250G>C (p.Cys1417Ser) c.*3583G>C (n.*3583G>C) c.3668G>C (p.Cys1223Ser) c.3521G>C (p.Cys1174Ser) | |
| 1 | g.223005647G>T | CA344693926 | DISP1 | c.*3777G>T (n.*3777G>T) c.*3606G>T (n.*3606G>T) c.4250G>T (p.Cys1417Phe) c.*3583G>T (n.*3583G>T) c.3668G>T (p.Cys1223Phe) c.3521G>T (p.Cys1174Phe) | |
| 1 | g.223005648T>A | CA344693930 | DISP1 | c.*3778T>A (n.*3778T>A) c.*3607T>A (n.*3607T>A) c.4251T>A (p.Cys1417Ter) c.*3584T>A (n.*3584T>A) c.3669T>A (p.Cys1223Ter) c.3522T>A (p.Cys1174Ter) | |
| 1 | g.223005648T>C | CA1409565 | DISP1 | c.*3778T>C (n.*3778T>C) c.*3607T>C (n.*3607T>C) c.4251T>C (p.Cys1417=) c.*3584T>C (n.*3584T>C) c.3669T>C (p.Cys1223=) c.3522T>C (p.Cys1174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005648T>G | CA344693933 | DISP1 | c.*3778T>G (n.*3778T>G) c.*3607T>G (n.*3607T>G) c.4251T>G (p.Cys1417Trp) c.*3584T>G (n.*3584T>G) c.3669T>G (p.Cys1223Trp) c.3522T>G (p.Cys1174Trp) | |
| 1 | g.223005648T= | CA1141894991 | DISP1 | c.*3778T= (n.*3778T=) c.*3607T= (n.*3607T=) c.4251T= (p.Cys1417=) c.*3584T= (n.*3584T=) c.3669T= (p.Cys1223=) c.3522T= (p.Cys1174=) | |
| 1 | g.223005649A>C | CA344693938 | DISP1 | c.*3779A>C (n.*3779A>C) c.*3608A>C (n.*3608A>C) c.4252A>C (p.Lys1418Gln) c.*3585A>C (n.*3585A>C) c.3670A>C (p.Lys1224Gln) c.3523A>C (p.Lys1175Gln) | |
| 1 | g.223005649A>G | CA344693941 | DISP1 | c.*3779A>G (n.*3779A>G) c.*3608A>G (n.*3608A>G) c.4252A>G (p.Lys1418Glu) c.*3585A>G (n.*3585A>G) c.3670A>G (p.Lys1224Glu) c.3523A>G (p.Lys1175Glu) | |
| 1 | g.223005649A>T | CA344693943 | DISP1 | c.*3779A>T (n.*3779A>T) c.*3608A>T (n.*3608A>T) c.4252A>T (p.Lys1418Ter) c.*3585A>T (n.*3585A>T) c.3670A>T (p.Lys1224Ter) c.3523A>T (p.Lys1175Ter) | |
| 1 | g.223005650A>C | CA344693947 | DISP1 | c.*3780A>C (n.*3780A>C) c.*3609A>C (n.*3609A>C) c.4253A>C (p.Lys1418Thr) c.*3586A>C (n.*3586A>C) c.3671A>C (p.Lys1224Thr) c.3524A>C (p.Lys1175Thr) | |
| 1 | g.223005650A>G | CA344693950 | DISP1 | c.*3780A>G (n.*3780A>G) c.*3609A>G (n.*3609A>G) c.4253A>G (p.Lys1418Arg) c.*3586A>G (n.*3586A>G) c.3671A>G (p.Lys1224Arg) c.3524A>G (p.Lys1175Arg) | |
| 1 | g.223005650A>T | CA344693951 | DISP1 | c.*3780A>T (n.*3780A>T) c.*3609A>T (n.*3609A>T) c.4253A>T (p.Lys1418Ile) c.*3586A>T (n.*3586A>T) c.3671A>T (p.Lys1224Ile) c.3524A>T (p.Lys1175Ile) | |
| 1 | g.223005651A>C | CA344693954 | DISP1 | c.*3781A>C (n.*3781A>C) c.*3610A>C (n.*3610A>C) c.4254A>C (p.Lys1418Asn) c.*3587A>C (n.*3587A>C) c.3672A>C (p.Lys1224Asn) c.3525A>C (p.Lys1175Asn) | |
| 1 | g.223005651A>G | CA423724221 | DISP1 | c.*3781A>G (n.*3781A>G) c.*3610A>G (n.*3610A>G) c.4254A>G (p.Lys1418=) c.*3587A>G (n.*3587A>G) c.3672A>G (p.Lys1224=) c.3525A>G (p.Lys1175=) | |
| 1 | g.223005651A>T | CA344693956 | DISP1 | c.*3781A>T (n.*3781A>T) c.*3610A>T (n.*3610A>T) c.4254A>T (p.Lys1418Asn) c.*3587A>T (n.*3587A>T) c.3672A>T (p.Lys1224Asn) c.3525A>T (p.Lys1175Asn) | |
| 1 | g.223005652A>C | CA344693959 | DISP1 | c.*3782A>C (n.*3782A>C) c.*3611A>C (n.*3611A>C) c.4255A>C (p.Asn1419His) c.*3588A>C (n.*3588A>C) c.3673A>C (p.Asn1225His) c.3526A>C (p.Asn1176His) | |
| 1 | g.223005652A>G | CA344693961 | DISP1 | c.*3782A>G (n.*3782A>G) c.*3611A>G (n.*3611A>G) c.4255A>G (p.Asn1419Asp) c.*3588A>G (n.*3588A>G) c.3673A>G (p.Asn1225Asp) c.3526A>G (p.Asn1176Asp) | |
| 1 | g.223005652A>T | CA344693963 | DISP1 | c.*3782A>T (n.*3782A>T) c.*3611A>T (n.*3611A>T) c.4255A>T (p.Asn1419Tyr) c.*3588A>T (n.*3588A>T) c.3673A>T (p.Asn1225Tyr) c.3526A>T (p.Asn1176Tyr) | |
| 1 | g.223005653A>C | CA344693968 | DISP1 | c.*3783A>C (n.*3783A>C) c.*3612A>C (n.*3612A>C) c.4256A>C (p.Asn1419Thr) c.*3589A>C (n.*3589A>C) c.3674A>C (p.Asn1225Thr) c.3527A>C (p.Asn1176Thr) | |
| 1 | g.223005653A>G | CA344693971 | DISP1 | c.*3783A>G (n.*3783A>G) c.*3612A>G (n.*3612A>G) c.4256A>G (p.Asn1419Ser) c.*3589A>G (n.*3589A>G) c.3674A>G (p.Asn1225Ser) c.3527A>G (p.Asn1176Ser) | |
| 1 | g.223005653A>T | CA344693966 | DISP1 | c.*3783A>T (n.*3783A>T) c.*3612A>T (n.*3612A>T) c.4256A>T (p.Asn1419Ile) c.*3589A>T (n.*3589A>T) c.3674A>T (p.Asn1225Ile) c.3527A>T (p.Asn1176Ile) | gnomAD v4 |
| 1 | g.223005654T>A | CA344693974 | DISP1 | c.*3784T>A (n.*3784T>A) c.*3613T>A (n.*3613T>A) c.4257T>A (p.Asn1419Lys) c.*3590T>A (n.*3590T>A) c.3675T>A (p.Asn1225Lys) c.3528T>A (p.Asn1176Lys) | |
| 1 | g.223005654T>C | CA423724231 | DISP1 | c.*3784T>C (n.*3784T>C) c.*3613T>C (n.*3613T>C) c.4257T>C (p.Asn1419=) c.*3590T>C (n.*3590T>C) c.3675T>C (p.Asn1225=) c.3528T>C (p.Asn1176=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.223005654T>G | CA344693977 | DISP1 | c.*3784T>G (n.*3784T>G) c.*3613T>G (n.*3613T>G) c.4257T>G (p.Asn1419Lys) c.*3590T>G (n.*3590T>G) c.3675T>G (p.Asn1225Lys) c.3528T>G (p.Asn1176Lys) | |
| 1 | g.223005654T= | CA1223476816 | DISP1 | c.*3784T= (n.*3784T=) c.*3613T= (n.*3613T=) c.4257T= (p.Asn1419=) c.*3590T= (n.*3590T=) c.3675T= (p.Asn1225=) c.3528T= (p.Asn1176=) | |
| 1 | g.223005655A>C | CA423724232 | DISP1 | c.*3785A>C (n.*3785A>C) c.*3614A>C (n.*3614A>C) c.4258A>C (p.Arg1420=) c.*3591A>C (n.*3591A>C) c.3676A>C (p.Arg1226=) c.3529A>C (p.Arg1177=) | |
| 1 | g.223005655A>G | CA344693979 | DISP1 | c.*3785A>G (n.*3785A>G) c.*3614A>G (n.*3614A>G) c.4258A>G (p.Arg1420Gly) c.*3591A>G (n.*3591A>G) c.3676A>G (p.Arg1226Gly) c.3529A>G (p.Arg1177Gly) | |
| 1 | g.223005655A>T | CA344693982 | DISP1 | c.*3785A>T (n.*3785A>T) c.*3614A>T (n.*3614A>T) c.4258A>T (p.Arg1420Ter) c.*3591A>T (n.*3591A>T) c.3676A>T (p.Arg1226Ter) c.3529A>T (p.Arg1177Ter) | |
| 1 | g.223005656G>A | CA344693985 | DISP1 | c.*3786G>A (n.*3786G>A) c.*3615G>A (n.*3615G>A) c.4259G>A (p.Arg1420Lys) c.*3592G>A (n.*3592G>A) c.3677G>A (p.Arg1226Lys) c.3530G>A (p.Arg1177Lys) | |
| 1 | g.223005656G>C | CA344693986 | DISP1 | c.*3786G>C (n.*3786G>C) c.*3615G>C (n.*3615G>C) c.4259G>C (p.Arg1420Thr) c.*3592G>C (n.*3592G>C) c.3677G>C (p.Arg1226Thr) c.3530G>C (p.Arg1177Thr) | dbSNP COSMIC |
| 1 | g.223005656G= | CA1223476817 | DISP1 | c.*3786G= (n.*3786G=) c.*3615G= (n.*3615G=) c.4259G= (p.Arg1420=) c.*3592G= (n.*3592G=) c.3677G= (p.Arg1226=) c.3530G= (p.Arg1177=) | |
| 1 | g.223005656G>T | CA344693988 | DISP1 | c.*3786G>T (n.*3786G>T) c.*3615G>T (n.*3615G>T) c.4259G>T (p.Arg1420Ile) c.*3592G>T (n.*3592G>T) c.3677G>T (p.Arg1226Ile) c.3530G>T (p.Arg1177Ile) | |
| 1 | g.223005657A>C | CA344693991 | DISP1 | c.*3787A>C (n.*3787A>C) c.*3616A>C (n.*3616A>C) c.4260A>C (p.Arg1420Ser) c.*3593A>C (n.*3593A>C) c.3678A>C (p.Arg1226Ser) c.3531A>C (p.Arg1177Ser) | |
| 1 | g.223005657A>G | CA423724239 | DISP1 | c.*3787A>G (n.*3787A>G) c.*3616A>G (n.*3616A>G) c.4260A>G (p.Arg1420=) c.*3593A>G (n.*3593A>G) c.3678A>G (p.Arg1226=) c.3531A>G (p.Arg1177=) | |
| 1 | g.223005657A>T | CA344693992 | DISP1 | c.*3787A>T (n.*3787A>T) c.*3616A>T (n.*3616A>T) c.4260A>T (p.Arg1420Ser) c.*3593A>T (n.*3593A>T) c.3678A>T (p.Arg1226Ser) c.3531A>T (p.Arg1177Ser) | |
| 1 | g.223005658G>A | CA344693995 | DISP1 | c.*3788G>A (n.*3788G>A) c.*3617G>A (n.*3617G>A) c.4261G>A (p.Asp1421Asn) c.*3594G>A (n.*3594G>A) c.3679G>A (p.Asp1227Asn) c.3532G>A (p.Asp1178Asn) | gnomAD v4 |
| 1 | g.223005658G>C | CA344693994 | DISP1 | c.*3788G>C (n.*3788G>C) c.*3617G>C (n.*3617G>C) c.4261G>C (p.Asp1421His) c.*3594G>C (n.*3594G>C) c.3679G>C (p.Asp1227His) c.3532G>C (p.Asp1178His) | |
| 1 | g.223005658G>T | CA344693993 | DISP1 | c.*3788G>T (n.*3788G>T) c.*3617G>T (n.*3617G>T) c.4261G>T (p.Asp1421Tyr) c.*3594G>T (n.*3594G>T) c.3679G>T (p.Asp1227Tyr) c.3532G>T (p.Asp1178Tyr) | |
| 1 | g.223005659A>C | CA344693996 | DISP1 | c.*3789A>C (n.*3789A>C) c.*3618A>C (n.*3618A>C) c.4262A>C (p.Asp1421Ala) c.*3595A>C (n.*3595A>C) c.3680A>C (p.Asp1227Ala) c.3533A>C (p.Asp1178Ala) | |
| 1 | g.223005659A>G | CA344693998 | DISP1 | c.*3789A>G (n.*3789A>G) c.*3618A>G (n.*3618A>G) c.4262A>G (p.Asp1421Gly) c.*3595A>G (n.*3595A>G) c.3680A>G (p.Asp1227Gly) c.3533A>G (p.Asp1178Gly) | |
| 1 | g.223005659A>T | CA344694001 | DISP1 | c.*3789A>T (n.*3789A>T) c.*3618A>T (n.*3618A>T) c.4262A>T (p.Asp1421Val) c.*3595A>T (n.*3595A>T) c.3680A>T (p.Asp1227Val) c.3533A>T (p.Asp1178Val) | |
| 1 | g.223005660C>A | CA344694004 | DISP1 | c.*3790C>A (n.*3790C>A) c.*3619C>A (n.*3619C>A) c.4263C>A (p.Asp1421Glu) c.*3596C>A (n.*3596C>A) c.3681C>A (p.Asp1227Glu) c.3534C>A (p.Asp1178Glu) | |
| 1 | g.223005660C= | CA1146620701 | DISP1 | c.*3790C= (n.*3790C=) c.*3619C= (n.*3619C=) c.4263C= (p.Asp1421=) c.*3596C= (n.*3596C=) c.3681C= (p.Asp1227=) c.3534C= (p.Asp1178=) | |
| 1 | g.223005660C>G | CA344694006 | DISP1 | c.*3790C>G (n.*3790C>G) c.*3619C>G (n.*3619C>G) c.4263C>G (p.Asp1421Glu) c.*3596C>G (n.*3596C>G) c.3681C>G (p.Asp1227Glu) c.3534C>G (p.Asp1178Glu) | |
| 1 | g.223005660C>T | CA1409566 | DISP1 | c.*3790C>T (n.*3790C>T) c.*3619C>T (n.*3619C>T) c.4263C>T (p.Asp1421=) c.*3596C>T (n.*3596C>T) c.3681C>T (p.Asp1227=) c.3534C>T (p.Asp1178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.223005661G>A | CA1409567 | DISP1 | c.*3791G>A (n.*3791G>A) c.*3620G>A (n.*3620G>A) c.4264G>A (p.Val1422Met) c.*3597G>A (n.*3597G>A) c.3682G>A (p.Val1228Met) c.3535G>A (p.Val1179Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005661G>C | CA344694027 | DISP1 | c.*3791G>C (n.*3791G>C) c.*3620G>C (n.*3620G>C) c.4264G>C (p.Val1422Leu) c.*3597G>C (n.*3597G>C) c.3682G>C (p.Val1228Leu) c.3535G>C (p.Val1179Leu) | |
| 1 | g.223005661G= | CA1148884065 | DISP1 | c.*3791G= (n.*3791G=) c.*3620G= (n.*3620G=) c.4264G= (p.Val1422=) c.*3597G= (n.*3597G=) c.3682G= (p.Val1228=) c.3535G= (p.Val1179=) | |
| 1 | g.223005661G>T | CA344694017 | DISP1 | c.*3791G>T (n.*3791G>T) c.*3620G>T (n.*3620G>T) c.4264G>T (p.Val1422Leu) c.*3597G>T (n.*3597G>T) c.3682G>T (p.Val1228Leu) c.3535G>T (p.Val1179Leu) | dbSNP |
| 1 | g.223005662T>A | CA344694030 | DISP1 | c.*3792T>A (n.*3792T>A) c.*3621T>A (n.*3621T>A) c.4265T>A (p.Val1422Glu) c.*3598T>A (n.*3598T>A) c.3683T>A (p.Val1228Glu) c.3536T>A (p.Val1179Glu) | |
| 1 | g.223005662T>C | CA344694033 | DISP1 | c.*3792T>C (n.*3792T>C) c.*3621T>C (n.*3621T>C) c.4265T>C (p.Val1422Ala) c.*3598T>C (n.*3598T>C) c.3683T>C (p.Val1228Ala) c.3536T>C (p.Val1179Ala) | |
| 1 | g.223005662T>G | CA344694034 | DISP1 | c.*3792T>G (n.*3792T>G) c.*3621T>G (n.*3621T>G) c.4265T>G (p.Val1422Gly) c.*3598T>G (n.*3598T>G) c.3683T>G (p.Val1228Gly) c.3536T>G (p.Val1179Gly) | |
| 1 | g.223005663G>A | CA423724262 | DISP1 | c.*3793G>A (n.*3793G>A) c.*3622G>A (n.*3622G>A) c.4266G>A (p.Val1422=) c.*3599G>A (n.*3599G>A) c.3684G>A (p.Val1228=) c.3537G>A (p.Val1179=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.223005663G>C | CA423724258 | DISP1 | c.*3793G>C (n.*3793G>C) c.*3622G>C (n.*3622G>C) c.4266G>C (p.Val1422=) c.*3599G>C (n.*3599G>C) c.3684G>C (p.Val1228=) c.3537G>C (p.Val1179=) | |
| 1 | g.223005663G= | CA1223476818 | DISP1 | c.*3793G= (n.*3793G=) c.*3622G= (n.*3622G=) c.4266G= (p.Val1422=) c.*3599G= (n.*3599G=) c.3684G= (p.Val1228=) c.3537G= (p.Val1179=) | |
| 1 | g.223005663G>T | CA423724259 | DISP1 | c.*3793G>T (n.*3793G>T) c.*3622G>T (n.*3622G>T) c.4266G>T (p.Val1422=) c.*3599G>T (n.*3599G>T) c.3684G>T (p.Val1228=) c.3537G>T (p.Val1179=) | |
| 1 | g.223005664A= | CA1223476819 | DISP1 | c.*3794A= (n.*3794A=) c.*3623A= (n.*3623A=) c.4267A= (p.Ser1423=) c.*3600A= (n.*3600A=) c.3685A= (p.Ser1229=) c.3538A= (p.Ser1180=) | |
| 1 | g.223005664A>C | CA344694037 | DISP1 | c.*3794A>C (n.*3794A>C) c.*3623A>C (n.*3623A>C) c.4267A>C (p.Ser1423Arg) c.*3600A>C (n.*3600A>C) c.3685A>C (p.Ser1229Arg) c.3538A>C (p.Ser1180Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.223005664A>G | CA344694040 | DISP1 | c.*3794A>G (n.*3794A>G) c.*3623A>G (n.*3623A>G) c.4267A>G (p.Ser1423Gly) c.*3600A>G (n.*3600A>G) c.3685A>G (p.Ser1229Gly) c.3538A>G (p.Ser1180Gly) | |
| 1 | g.223005664A>T | CA344694045 | DISP1 | c.*3794A>T (n.*3794A>T) c.*3623A>T (n.*3623A>T) c.4267A>T (p.Ser1423Cys) c.*3600A>T (n.*3600A>T) c.3685A>T (p.Ser1229Cys) c.3538A>T (p.Ser1180Cys) | |
| 1 | g.223005665G>A | CA344694049 | DISP1 | c.*3795G>A (n.*3795G>A) c.*3624G>A (n.*3624G>A) c.4268G>A (p.Ser1423Asn) c.*3601G>A (n.*3601G>A) c.3686G>A (p.Ser1229Asn) c.3539G>A (p.Ser1180Asn) | |
| 1 | g.223005665G>C | CA344694051 | DISP1 | c.*3795G>C (n.*3795G>C) c.*3624G>C (n.*3624G>C) c.4268G>C (p.Ser1423Thr) c.*3601G>C (n.*3601G>C) c.3686G>C (p.Ser1229Thr) c.3539G>C (p.Ser1180Thr) | |
| 1 | g.223005665G>T | CA344694053 | DISP1 | c.*3795G>T (n.*3795G>T) c.*3624G>T (n.*3624G>T) c.4268G>T (p.Ser1423Ile) c.*3601G>T (n.*3601G>T) c.3686G>T (p.Ser1229Ile) c.3539G>T (p.Ser1180Ile) | |
| 1 | g.223005666C>A | CA344694056 | DISP1 | c.*3796C>A (n.*3796C>A) c.*3625C>A (n.*3625C>A) c.4269C>A (p.Ser1423Arg) c.*3602C>A (n.*3602C>A) c.3687C>A (p.Ser1229Arg) c.3540C>A (p.Ser1180Arg) | |
| 1 | g.223005666C>G | CA344694058 | DISP1 | c.*3796C>G (n.*3796C>G) c.*3625C>G (n.*3625C>G) c.4269C>G (p.Ser1423Arg) c.*3602C>G (n.*3602C>G) c.3687C>G (p.Ser1229Arg) c.3540C>G (p.Ser1180Arg) | COSMIC |
| 1 | g.223005666C>T | CA423724274 | DISP1 | c.*3796C>T (n.*3796C>T) c.*3625C>T (n.*3625C>T) c.4269C>T (p.Ser1423=) c.*3602C>T (n.*3602C>T) c.3687C>T (p.Ser1229=) c.3540C>T (p.Ser1180=) | |
| 1 | g.223005667A>C | CA344694061 | DISP1 | c.*3797A>C (n.*3797A>C) c.*3626A>C (n.*3626A>C) c.4270A>C (p.Asn1424His) c.*3603A>C (n.*3603A>C) c.3688A>C (p.Asn1230His) c.3541A>C (p.Asn1181His) | |
| 1 | g.223005667A>G | CA344694068 | DISP1 | c.*3797A>G (n.*3797A>G) c.*3626A>G (n.*3626A>G) c.4270A>G (p.Asn1424Asp) c.*3603A>G (n.*3603A>G) c.3688A>G (p.Asn1230Asp) c.3541A>G (p.Asn1181Asp) | |
| 1 | g.223005667A>T | CA344694065 | DISP1 | c.*3797A>T (n.*3797A>T) c.*3626A>T (n.*3626A>T) c.4270A>T (p.Asn1424Tyr) c.*3603A>T (n.*3603A>T) c.3688A>T (p.Asn1230Tyr) c.3541A>T (p.Asn1181Tyr) | |
| 1 | g.223005668A>C | CA344694073 | DISP1 | c.*3798A>C (n.*3798A>C) c.*3627A>C (n.*3627A>C) c.4271A>C (p.Asn1424Thr) c.*3604A>C (n.*3604A>C) c.3689A>C (p.Asn1230Thr) c.3542A>C (p.Asn1181Thr) | |
| 1 | g.223005668A>G | CA344694075 | DISP1 | c.*3798A>G (n.*3798A>G) c.*3627A>G (n.*3627A>G) c.4271A>G (p.Asn1424Ser) c.*3604A>G (n.*3604A>G) c.3689A>G (p.Asn1230Ser) c.3542A>G (p.Asn1181Ser) | |
| 1 | g.223005668A>T | CA344694078 | DISP1 | c.*3798A>T (n.*3798A>T) c.*3627A>T (n.*3627A>T) c.4271A>T (p.Asn1424Ile) c.*3604A>T (n.*3604A>T) c.3689A>T (p.Asn1230Ile) c.3542A>T (p.Asn1181Ile) | |
| 1 | g.223005669T>A | CA344694081 | DISP1 | c.*3799T>A (n.*3799T>A) c.*3628T>A (n.*3628T>A) c.4272T>A (p.Asn1424Lys) c.*3605T>A (n.*3605T>A) c.3690T>A (p.Asn1230Lys) c.3543T>A (p.Asn1181Lys) | |
| 1 | g.223005669T>C | CA423724282 | DISP1 | c.*3799T>C (n.*3799T>C) c.*3628T>C (n.*3628T>C) c.4272T>C (p.Asn1424=) c.*3605T>C (n.*3605T>C) c.3690T>C (p.Asn1230=) c.3543T>C (p.Asn1181=) | gnomAD v4 |
| 1 | g.223005669T>G | CA344694082 | DISP1 | c.*3799T>G (n.*3799T>G) c.*3628T>G (n.*3628T>G) c.4272T>G (p.Asn1424Lys) c.*3605T>G (n.*3605T>G) c.3690T>G (p.Asn1230Lys) c.3543T>G (p.Asn1181Lys) | |
| 1 | g.223005670C>A | CA344694083 | DISP1 | c.*3800C>A (n.*3800C>A) c.*3629C>A (n.*3629C>A) c.4273C>A (p.Leu1425Met) c.*3606C>A (n.*3606C>A) c.3691C>A (p.Leu1231Met) c.3544C>A (p.Leu1182Met) | |
| 1 | g.223005670C>G | CA344694084 | DISP1 | c.*3800C>G (n.*3800C>G) c.*3629C>G (n.*3629C>G) c.4273C>G (p.Leu1425Val) c.*3606C>G (n.*3606C>G) c.3691C>G (p.Leu1231Val) c.3544C>G (p.Leu1182Val) | |
| 1 | g.223005670C>T | CA423724288 | DISP1 | c.*3800C>T (n.*3800C>T) c.*3629C>T (n.*3629C>T) c.4273C>T (p.Leu1425=) c.*3606C>T (n.*3606C>T) c.3691C>T (p.Leu1231=) c.3544C>T (p.Leu1182=) | |
| 1 | g.223005671T>A | CA344694086 | DISP1 | c.*3801T>A (n.*3801T>A) c.*3630T>A (n.*3630T>A) c.4274T>A (p.Leu1425Gln) c.*3607T>A (n.*3607T>A) c.3692T>A (p.Leu1231Gln) c.3545T>A (p.Leu1182Gln) | |
| 1 | g.223005671T>C | CA344694088 | DISP1 | c.*3801T>C (n.*3801T>C) c.*3630T>C (n.*3630T>C) c.4274T>C (p.Leu1425Pro) c.*3607T>C (n.*3607T>C) c.3692T>C (p.Leu1231Pro) c.3545T>C (p.Leu1182Pro) | |
| 1 | g.223005671T>G | CA344694090 | DISP1 | c.*3801T>G (n.*3801T>G) c.*3630T>G (n.*3630T>G) c.4274T>G (p.Leu1425Arg) c.*3607T>G (n.*3607T>G) c.3692T>G (p.Leu1231Arg) c.3545T>G (p.Leu1182Arg) | |
| 1 | g.223005672G>A | CA423724298 | DISP1 | c.*3802G>A (n.*3802G>A) c.*3631G>A (n.*3631G>A) c.4275G>A (p.Leu1425=) c.*3608G>A (n.*3608G>A) c.3693G>A (p.Leu1231=) c.3546G>A (p.Leu1182=) | |
| 1 | g.223005672G>C | CA423724299 | DISP1 | c.*3802G>C (n.*3802G>C) c.*3631G>C (n.*3631G>C) c.4275G>C (p.Leu1425=) c.*3608G>C (n.*3608G>C) c.3693G>C (p.Leu1231=) c.3546G>C (p.Leu1182=) | |
| 1 | g.223005672G>T | CA423724300 | DISP1 | c.*3802G>T (n.*3802G>T) c.*3631G>T (n.*3631G>T) c.4275G>T (p.Leu1425=) c.*3608G>T (n.*3608G>T) c.3693G>T (p.Leu1231=) c.3546G>T (p.Leu1182=) | |
| 1 | g.223005673G>A | CA344694095 | DISP1 | c.*3803G>A (n.*3803G>A) c.*3632G>A (n.*3632G>A) c.4276G>A (p.Glu1426Lys) c.*3609G>A (n.*3609G>A) c.3694G>A (p.Glu1232Lys) c.3547G>A (p.Glu1183Lys) | |
| 1 | g.223005673G>C | CA1409568 | DISP1 | c.*3803G>C (n.*3803G>C) c.*3632G>C (n.*3632G>C) c.4276G>C (p.Glu1426Gln) c.*3609G>C (n.*3609G>C) c.3694G>C (p.Glu1232Gln) c.3547G>C (p.Glu1183Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005673G= | CA1223476820 | DISP1 | c.*3803G= (n.*3803G=) c.*3632G= (n.*3632G=) c.4276G= (p.Glu1426=) c.*3609G= (n.*3609G=) c.3694G= (p.Glu1232=) c.3547G= (p.Glu1183=) | |
| 1 | g.223005673G>T | CA344694098 | DISP1 | c.*3803G>T (n.*3803G>T) c.*3632G>T (n.*3632G>T) c.4276G>T (p.Glu1426Ter) c.*3609G>T (n.*3609G>T) c.3694G>T (p.Glu1232Ter) c.3547G>T (p.Glu1183Ter) | dbSNP |
| 1 | g.223005674A>C | CA344694100 | DISP1 | c.*3804A>C (n.*3804A>C) c.*3633A>C (n.*3633A>C) c.4277A>C (p.Glu1426Ala) c.*3610A>C (n.*3610A>C) c.3695A>C (p.Glu1232Ala) c.3548A>C (p.Glu1183Ala) | |
| 1 | g.223005674A>G | CA344694103 | DISP1 | c.*3804A>G (n.*3804A>G) c.*3633A>G (n.*3633A>G) c.4277A>G (p.Glu1426Gly) c.*3610A>G (n.*3610A>G) c.3695A>G (p.Glu1232Gly) c.3548A>G (p.Glu1183Gly) | |
| 1 | g.223005674A>T | CA344694102 | DISP1 | c.*3804A>T (n.*3804A>T) c.*3633A>T (n.*3633A>T) c.4277A>T (p.Glu1426Val) c.*3610A>T (n.*3610A>T) c.3695A>T (p.Glu1232Val) c.3548A>T (p.Glu1183Val) | |
| 1 | g.223005675G>A | CA423724309 | DISP1 | c.*3805G>A (n.*3805G>A) c.*3634G>A (n.*3634G>A) c.4278G>A (p.Glu1426=) c.*3611G>A (n.*3611G>A) c.3696G>A (p.Glu1232=) c.3549G>A (p.Glu1183=) | |
| 1 | g.223005675G>C | CA344694105 | DISP1 | c.*3805G>C (n.*3805G>C) c.*3634G>C (n.*3634G>C) c.4278G>C (p.Glu1426Asp) c.*3611G>C (n.*3611G>C) c.3696G>C (p.Glu1232Asp) c.3549G>C (p.Glu1183Asp) | |
| 1 | g.223005675G>T | CA344694108 | DISP1 | c.*3805G>T (n.*3805G>T) c.*3634G>T (n.*3634G>T) c.4278G>T (p.Glu1426Asp) c.*3611G>T (n.*3611G>T) c.3696G>T (p.Glu1232Asp) c.3549G>T (p.Glu1183Asp) | |
| 1 | g.223005676A>C | CA344694111 | DISP1 | c.*3806A>C (n.*3806A>C) c.*3635A>C (n.*3635A>C) c.4279A>C (p.Ser1427Arg) c.*3612A>C (n.*3612A>C) c.3697A>C (p.Ser1233Arg) c.3550A>C (p.Ser1184Arg) | |
| 1 | g.223005676A>G | CA344694114 | DISP1 | c.*3806A>G (n.*3806A>G) c.*3635A>G (n.*3635A>G) c.4279A>G (p.Ser1427Gly) c.*3612A>G (n.*3612A>G) c.3697A>G (p.Ser1233Gly) c.3550A>G (p.Ser1184Gly) | |
| 1 | g.223005676A>T | CA344694116 | DISP1 | c.*3806A>T (n.*3806A>T) c.*3635A>T (n.*3635A>T) c.4279A>T (p.Ser1427Cys) c.*3612A>T (n.*3612A>T) c.3697A>T (p.Ser1233Cys) c.3550A>T (p.Ser1184Cys) | |
| 1 | g.223005677G>A | CA344694119 | DISP1 | c.*3807G>A (n.*3807G>A) c.*3636G>A (n.*3636G>A) c.4280G>A (p.Ser1427Asn) c.*3613G>A (n.*3613G>A) c.3698G>A (p.Ser1233Asn) c.3551G>A (p.Ser1184Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.223005677G>C | CA344694121 | DISP1 | c.*3807G>C (n.*3807G>C) c.*3636G>C (n.*3636G>C) c.4280G>C (p.Ser1427Thr) c.*3613G>C (n.*3613G>C) c.3698G>C (p.Ser1233Thr) c.3551G>C (p.Ser1184Thr) | |
| 1 | g.223005677G= | CA1223476821 | DISP1 | c.*3807G= (n.*3807G=) c.*3636G= (n.*3636G=) c.4280G= (p.Ser1427=) c.*3613G= (n.*3613G=) c.3698G= (p.Ser1233=) c.3551G= (p.Ser1184=) | |
| 1 | g.223005677G>T | CA344694123 | DISP1 | c.*3807G>T (n.*3807G>T) c.*3636G>T (n.*3636G>T) c.4280G>T (p.Ser1427Ile) c.*3613G>T (n.*3613G>T) c.3698G>T (p.Ser1233Ile) c.3551G>T (p.Ser1184Ile) | gnomAD v4 |
| 1 | g.223005678C>A | CA344694125 | DISP1 | c.*3808C>A (n.*3808C>A) c.*3637C>A (n.*3637C>A) c.4281C>A (p.Ser1427Arg) c.*3614C>A (n.*3614C>A) c.3699C>A (p.Ser1233Arg) c.3552C>A (p.Ser1184Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.223005678C= | CA1223476822 | DISP1 | c.*3808C= (n.*3808C=) c.*3637C= (n.*3637C=) c.4281C= (p.Ser1427=) c.*3614C= (n.*3614C=) c.3699C= (p.Ser1233=) c.3552C= (p.Ser1184=) | |
| 1 | g.223005678C>G | CA344694127 | DISP1 | c.*3808C>G (n.*3808C>G) c.*3637C>G (n.*3637C>G) c.4281C>G (p.Ser1427Arg) c.*3614C>G (n.*3614C>G) c.3699C>G (p.Ser1233Arg) c.3552C>G (p.Ser1184Arg) | |
| 1 | g.223005678C>T | CA423724327 | DISP1 | c.*3808C>T (n.*3808C>T) c.*3637C>T (n.*3637C>T) c.4281C>T (p.Ser1427=) c.*3614C>T (n.*3614C>T) c.3699C>T (p.Ser1233=) c.3552C>T (p.Ser1184=) | gnomAD v4 |
| 1 | g.223005679A>C | CA344694131 | DISP1 | c.*3809A>C (n.*3809A>C) c.*3638A>C (n.*3638A>C) c.4282A>C (p.Ser1428Arg) c.*3615A>C (n.*3615A>C) c.3700A>C (p.Ser1234Arg) c.3553A>C (p.Ser1185Arg) | |
| 1 | g.223005679A>G | CA344694134 | DISP1 | c.*3809A>G (n.*3809A>G) c.*3638A>G (n.*3638A>G) c.4282A>G (p.Ser1428Gly) c.*3615A>G (n.*3615A>G) c.3700A>G (p.Ser1234Gly) c.3553A>G (p.Ser1185Gly) | |
| 1 | g.223005679A>T | CA344694129 | DISP1 | c.*3809A>T (n.*3809A>T) c.*3638A>T (n.*3638A>T) c.4282A>T (p.Ser1428Cys) c.*3615A>T (n.*3615A>T) c.3700A>T (p.Ser1234Cys) c.3553A>T (p.Ser1185Cys) | |
| 1 | g.223005680G>A | CA344694140 | DISP1 | c.*3810G>A (n.*3810G>A) c.*3639G>A (n.*3639G>A) c.4283G>A (p.Ser1428Asn) c.*3616G>A (n.*3616G>A) c.3701G>A (p.Ser1234Asn) c.3554G>A (p.Ser1185Asn) | gnomAD v4 |
| 1 | g.223005680G>C | CA344694136 | DISP1 | c.*3810G>C (n.*3810G>C) c.*3639G>C (n.*3639G>C) c.4283G>C (p.Ser1428Thr) c.*3616G>C (n.*3616G>C) c.3701G>C (p.Ser1234Thr) c.3554G>C (p.Ser1185Thr) | gnomAD v4 |
| 1 | g.223005680G>T | CA344694138 | DISP1 | c.*3810G>T (n.*3810G>T) c.*3639G>T (n.*3639G>T) c.4283G>T (p.Ser1428Ile) c.*3616G>T (n.*3616G>T) c.3701G>T (p.Ser1234Ile) c.3554G>T (p.Ser1185Ile) | |
| 1 | g.223005681T>A | CA344694143 | DISP1 | c.*3811T>A (n.*3811T>A) c.*3640T>A (n.*3640T>A) c.4284T>A (p.Ser1428Arg) c.*3617T>A (n.*3617T>A) c.3702T>A (p.Ser1234Arg) c.3555T>A (p.Ser1185Arg) | dbSNP |
| 1 | g.223005681T>C | CA423724339 | DISP1 | c.*3811T>C (n.*3811T>C) c.*3640T>C (n.*3640T>C) c.4284T>C (p.Ser1428=) c.*3617T>C (n.*3617T>C) c.3702T>C (p.Ser1234=) c.3555T>C (p.Ser1185=) | |
| 1 | g.223005681T>G | CA344694144 | DISP1 | c.*3811T>G (n.*3811T>G) c.*3640T>G (n.*3640T>G) c.4284T>G (p.Ser1428Arg) c.*3617T>G (n.*3617T>G) c.3702T>G (p.Ser1234Arg) c.3555T>G (p.Ser1185Arg) | gnomAD v4 |
| 1 | g.223005681T= | CA1223476823 | DISP1 | c.*3811T= (n.*3811T=) c.*3640T= (n.*3640T=) c.4284T= (p.Ser1428=) c.*3617T= (n.*3617T=) c.3702T= (p.Ser1234=) c.3555T= (p.Ser1185=) | |
| 1 | g.223005682G>A | CA1409569 | DISP1 | c.*3812G>A (n.*3812G>A) c.*3641G>A (n.*3641G>A) c.4285G>A (p.Gly1429Arg) c.*3618G>A (n.*3618G>A) c.3703G>A (p.Gly1235Arg) c.3556G>A (p.Gly1186Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.223005682G>C | CA344694149 | DISP1 | c.*3812G>C (n.*3812G>C) c.*3641G>C (n.*3641G>C) c.4285G>C (p.Gly1429Arg) c.*3618G>C (n.*3618G>C) c.3703G>C (p.Gly1235Arg) c.3556G>C (p.Gly1186Arg) | |
| 1 | g.223005682G= | CA1223476824 | DISP1 | c.*3812G= (n.*3812G=) c.*3641G= (n.*3641G=) c.4285G= (p.Gly1429=) c.*3618G= (n.*3618G=) c.3703G= (p.Gly1235=) c.3556G= (p.Gly1186=) | |
| 1 | g.223005682G>T | CA344694150 | DISP1 | c.*3812G>T (n.*3812G>T) c.*3641G>T (n.*3641G>T) c.4285G>T (p.Gly1429Ter) c.*3618G>T (n.*3618G>T) c.3703G>T (p.Gly1235Ter) c.3556G>T (p.Gly1186Ter) | |
| 1 | g.223005683G>A | CA344694152 | DISP1 | c.*3813G>A (n.*3813G>A) c.*3642G>A (n.*3642G>A) c.4286G>A (p.Gly1429Glu) c.*3619G>A (n.*3619G>A) c.3704G>A (p.Gly1235Glu) c.3557G>A (p.Gly1186Glu) | |
| 1 | g.223005683G>C | CA344694157 | DISP1 | c.*3813G>C (n.*3813G>C) c.*3642G>C (n.*3642G>C) c.4286G>C (p.Gly1429Ala) c.*3619G>C (n.*3619G>C) c.3704G>C (p.Gly1235Ala) c.3557G>C (p.Gly1186Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.223005683G= | CA1223476825 | DISP1 | c.*3813G= (n.*3813G=) c.*3642G= (n.*3642G=) c.4286G= (p.Gly1429=) c.*3619G= (n.*3619G=) c.3704G= (p.Gly1235=) c.3557G= (p.Gly1186=) | |
| 1 | g.223005683G>T | CA344694154 | DISP1 | c.*3813G>T (n.*3813G>T) c.*3642G>T (n.*3642G>T) c.4286G>T (p.Gly1429Val) c.*3619G>T (n.*3619G>T) c.3704G>T (p.Gly1235Val) c.3557G>T (p.Gly1186Val) | |
| 1 | g.223005684A= | CA1148446468 | DISP1 | c.*3814A= (n.*3814A=) c.*3643A= (n.*3643A=) c.4287A= (p.Gly1429=) c.*3620A= (n.*3620A=) c.3705A= (p.Gly1235=) c.3558A= (p.Gly1186=) | |
| 1 | g.223005684A>C | CA423724355 | DISP1 | c.*3814A>C (n.*3814A>C) c.*3643A>C (n.*3643A>C) c.4287A>C (p.Gly1429=) c.*3620A>C (n.*3620A>C) c.3705A>C (p.Gly1235=) c.3558A>C (p.Gly1186=) | |
| 1 | g.223005684A>G | CA423724347 | DISP1 | c.*3814A>G (n.*3814A>G) c.*3643A>G (n.*3643A>G) c.4287A>G (p.Gly1429=) c.*3620A>G (n.*3620A>G) c.3705A>G (p.Gly1235=) c.3558A>G (p.Gly1186=) | dbSNP |
| 1 | g.223005684A>T | CA1409570 | DISP1 | c.*3814A>T (n.*3814A>T) c.*3643A>T (n.*3643A>T) c.4287A>T (p.Gly1429=) c.*3620A>T (n.*3620A>T) c.3705A>T (p.Gly1235=) c.3558A>T (p.Gly1186=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.223005685G>A | CA344694166 | DISP1 | c.*3815G>A (n.*3815G>A) c.*3644G>A (n.*3644G>A) c.4288G>A (p.Gly1430Arg) c.*3621G>A (n.*3621G>A) c.3706G>A (p.Gly1236Arg) c.3559G>A (p.Gly1187Arg) | |
| 1 | g.223005685G>C | CA344694168 | DISP1 | c.*3815G>C (n.*3815G>C) c.*3644G>C (n.*3644G>C) c.4288G>C (p.Gly1430Arg) c.*3621G>C (n.*3621G>C) c.3706G>C (p.Gly1236Arg) c.3559G>C (p.Gly1187Arg) | |
| 1 | g.223005685G>T | CA344694170 | DISP1 | c.*3815G>T (n.*3815G>T) c.*3644G>T (n.*3644G>T) c.4288G>T (p.Gly1430Trp) c.*3621G>T (n.*3621G>T) c.3706G>T (p.Gly1236Trp) c.3559G>T (p.Gly1187Trp) | |
| 1 | g.223005686G>A | CA344694175 | DISP1 | c.*3816G>A (n.*3816G>A) c.*3645G>A (n.*3645G>A) c.4289G>A (p.Gly1430Glu) c.*3622G>A (n.*3622G>A) c.3707G>A (p.Gly1236Glu) c.3560G>A (p.Gly1187Glu) | |
| 1 | g.223005686G>C | CA344694178 | DISP1 | c.*3816G>C (n.*3816G>C) c.*3645G>C (n.*3645G>C) c.4289G>C (p.Gly1430Ala) c.*3622G>C (n.*3622G>C) c.3707G>C (p.Gly1236Ala) c.3560G>C (p.Gly1187Ala) | dbSNP gnomAD v2 |
| 1 | g.223005686G= | CA1223476826 | DISP1 | c.*3816G= (n.*3816G=) c.*3645G= (n.*3645G=) c.4289G= (p.Gly1430=) c.*3622G= (n.*3622G=) c.3707G= (p.Gly1236=) c.3560G= (p.Gly1187=) | |
| 1 | g.223005686G>T | CA344694177 | DISP1 | c.*3816G>T (n.*3816G>T) c.*3645G>T (n.*3645G>T) c.4289G>T (p.Gly1430Val) c.*3622G>T (n.*3622G>T) c.3707G>T (p.Gly1236Val) c.3560G>T (p.Gly1187Val) | |
| 1 | g.223005687G>A | CA423724356 | DISP1 | c.*3817G>A (n.*3817G>A) c.*3646G>A (n.*3646G>A) c.4290G>A (p.Gly1430=) c.*3623G>A (n.*3623G>A) c.3708G>A (p.Gly1236=) c.3561G>A (p.Gly1187=) | dbSNP |
| 1 | g.223005687G>C | CA423724357 | DISP1 | c.*3817G>C (n.*3817G>C) c.*3646G>C (n.*3646G>C) c.4290G>C (p.Gly1430=) c.*3623G>C (n.*3623G>C) c.3708G>C (p.Gly1236=) c.3561G>C (p.Gly1187=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.223005687G= | CA1223476827 | DISP1 | c.*3817G= (n.*3817G=) c.*3646G= (n.*3646G=) c.4290G= (p.Gly1430=) c.*3623G= (n.*3623G=) c.3708G= (p.Gly1236=) c.3561G= (p.Gly1187=) | |
| 1 | g.223005687G>T | CA423724358 | DISP1 | c.*3817G>T (n.*3817G>T) c.*3646G>T (n.*3646G>T) c.4290G>T (p.Gly1430=) c.*3623G>T (n.*3623G>T) c.3708G>T (p.Gly1236=) c.3561G>T (p.Gly1187=) | |
| 1 | g.223005688A>C | CA344694182 | DISP1 | c.*3818A>C (n.*3818A>C) c.*3647A>C (n.*3647A>C) c.4291A>C (p.Thr1431Pro) c.*3624A>C (n.*3624A>C) c.3709A>C (p.Thr1237Pro) c.3562A>C (p.Thr1188Pro) | |
| 1 | g.223005688A>G | CA344694183 | DISP1 | c.*3818A>G (n.*3818A>G) c.*3647A>G (n.*3647A>G) c.4291A>G (p.Thr1431Ala) c.*3624A>G (n.*3624A>G) c.3709A>G (p.Thr1237Ala) c.3562A>G (p.Thr1188Ala) | gnomAD v4 |
| 1 | g.223005688A>T | CA344694185 | DISP1 | c.*3818A>T (n.*3818A>T) c.*3647A>T (n.*3647A>T) c.4291A>T (p.Thr1431Ser) c.*3624A>T (n.*3624A>T) c.3709A>T (p.Thr1237Ser) c.3562A>T (p.Thr1188Ser) | |
| 1 | g.223005689C>A | CA344694188 | DISP1 | c.*3819C>A (n.*3819C>A) c.*3648C>A (n.*3648C>A) c.4292C>A (p.Thr1431Asn) c.*3625C>A (n.*3625C>A) c.3710C>A (p.Thr1237Asn) c.3563C>A (p.Thr1188Asn) | |
| 1 | g.223005689C>G | CA344694191 | DISP1 | c.*3819C>G (n.*3819C>G) c.*3648C>G (n.*3648C>G) c.4292C>G (p.Thr1431Ser) c.*3625C>G (n.*3625C>G) c.3710C>G (p.Thr1237Ser) c.3563C>G (p.Thr1188Ser) | |
| 1 | g.223005689C>T | CA344694192 | DISP1 | c.*3819C>T (n.*3819C>T) c.*3648C>T (n.*3648C>T) c.4292C>T (p.Thr1431Ile) c.*3625C>T (n.*3625C>T) c.3710C>T (p.Thr1237Ile) c.3563C>T (p.Thr1188Ile) | |
| 1 | g.223005690T>A | CA423724363 | DISP1 | c.*3820T>A (n.*3820T>A) c.*3649T>A (n.*3649T>A) c.4293T>A (p.Thr1431=) c.*3626T>A (n.*3626T>A) c.3711T>A (p.Thr1237=) c.3564T>A (p.Thr1188=) | |
| 1 | g.223005690T>C | CA423724362 | DISP1 | c.*3820T>C (n.*3820T>C) c.*3649T>C (n.*3649T>C) c.4293T>C (p.Thr1431=) c.*3626T>C (n.*3626T>C) c.3711T>C (p.Thr1237=) c.3564T>C (p.Thr1188=) | |
| 1 | g.223005690T>G | CA423724365 | DISP1 | c.*3820T>G (n.*3820T>G) c.*3649T>G (n.*3649T>G) c.4293T>G (p.Thr1431=) c.*3626T>G (n.*3626T>G) c.3711T>G (p.Thr1237=) c.3564T>G (p.Thr1188=) |