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 |
|---|---|---|---|---|---|
| 6 | g.43042967G>A | CA450369681 | CUL7,KLC4 | n.1551C>T c.3480C>T (p.Thr1160=) c.*136C>T (n.*136C>T) n.4041C>T c.*1777C>T (n.*1777C>T) n.3763C>T n.4057C>T c.1412-61C>T n.4319C>T c.3576C>T (p.Thr1192=) c.1972C>T c.-1003-91G>A (n.-1003-91G>A) c.3732C>T (p.Thr1244=) c.3636C>T (p.Thr1212=) c.1341C>T (p.Thr447=) c.3759C>T (p.Thr1253=) c.3663C>T (p.Thr1221=) c.3603C>T (p.Thr1201=) c.3507C>T (p.Thr1169=) c.3477C>T (p.Thr1159=) | gnomAD v4 |
| 6 | g.43042967G>C | CA450369682 | CUL7,KLC4 | n.1551C>G c.3480C>G (p.Thr1160=) c.*136C>G (n.*136C>G) n.4041C>G c.*1777C>G (n.*1777C>G) n.3763C>G n.4057C>G c.1412-61C>G n.4319C>G c.3576C>G (p.Thr1192=) c.1972C>G c.-1003-91G>C (n.-1003-91G>C) c.3732C>G (p.Thr1244=) c.3636C>G (p.Thr1212=) c.1341C>G (p.Thr447=) c.3759C>G (p.Thr1253=) c.3663C>G (p.Thr1221=) c.3603C>G (p.Thr1201=) c.3507C>G (p.Thr1169=) c.3477C>G (p.Thr1159=) | gnomAD v4 |
| 6 | g.43042967G= | CA1624354901 | CUL7,KLC4 | n.1551C= c.3480C= (p.Thr1160=) c.*136C= (n.*136C=) n.4041C= c.*1777C= (n.*1777C=) n.3763C= n.4057C= c.1412-61C= n.4319C= c.3576C= (p.Thr1192=) c.1972C= c.-1003-91G= (n.-1003-91G=) c.3732C= (p.Thr1244=) c.3636C= (p.Thr1212=) c.1341C= (p.Thr447=) c.3759C= (p.Thr1253=) c.3663C= (p.Thr1221=) c.3603C= (p.Thr1201=) c.3507C= (p.Thr1169=) c.3477C= (p.Thr1159=) | |
| 6 | g.43042967G>T | CA450369683 | CUL7,KLC4 | n.1551C>A c.3480C>A (p.Thr1160=) c.*136C>A (n.*136C>A) n.4041C>A c.*1777C>A (n.*1777C>A) n.3763C>A n.4057C>A c.1412-61C>A n.4319C>A c.3576C>A (p.Thr1192=) c.1972C>A c.-1003-91G>T (n.-1003-91G>T) c.3732C>A (p.Thr1244=) c.3636C>A (p.Thr1212=) c.1341C>A (p.Thr447=) c.3759C>A (p.Thr1253=) c.3663C>A (p.Thr1221=) c.3603C>A (p.Thr1201=) c.3507C>A (p.Thr1169=) c.3477C>A (p.Thr1159=) | dbSNP |
| 6 | g.43042968G>A | CA364203105 | CUL7,KLC4 | n.1550C>T c.3479C>T (p.Thr1160Ile) c.*135C>T (n.*135C>T) n.4040C>T c.*1776C>T (n.*1776C>T) n.3762C>T n.4056C>T c.1412-62C>T n.4318C>T c.3575C>T (p.Thr1192Ile) c.1971C>T c.-1003-90G>A (n.-1003-90G>A) c.3731C>T (p.Thr1244Ile) c.3635C>T (p.Thr1212Ile) c.1340C>T (p.Thr447Ile) c.3758C>T (p.Thr1253Ile) c.3662C>T (p.Thr1221Ile) c.3602C>T (p.Thr1201Ile) c.3506C>T (p.Thr1169Ile) c.3476C>T (p.Thr1159Ile) | |
| 6 | g.43042968G>C | CA364203106 | CUL7,KLC4 | n.1550C>G c.3479C>G (p.Thr1160Ser) c.*135C>G (n.*135C>G) n.4040C>G c.*1776C>G (n.*1776C>G) n.3762C>G n.4056C>G c.1412-62C>G n.4318C>G c.3575C>G (p.Thr1192Ser) c.1971C>G c.-1003-90G>C (n.-1003-90G>C) c.3731C>G (p.Thr1244Ser) c.3635C>G (p.Thr1212Ser) c.1340C>G (p.Thr447Ser) c.3758C>G (p.Thr1253Ser) c.3662C>G (p.Thr1221Ser) c.3602C>G (p.Thr1201Ser) c.3506C>G (p.Thr1169Ser) c.3476C>G (p.Thr1159Ser) | |
| 6 | g.43042968G>T | CA364203108 | CUL7,KLC4 | n.1550C>A c.3479C>A (p.Thr1160Asn) c.*135C>A (n.*135C>A) n.4040C>A c.*1776C>A (n.*1776C>A) n.3762C>A n.4056C>A c.1412-62C>A n.4318C>A c.3575C>A (p.Thr1192Asn) c.1971C>A c.-1003-90G>T (n.-1003-90G>T) c.3731C>A (p.Thr1244Asn) c.3635C>A (p.Thr1212Asn) c.1340C>A (p.Thr447Asn) c.3758C>A (p.Thr1253Asn) c.3662C>A (p.Thr1221Asn) c.3602C>A (p.Thr1201Asn) c.3506C>A (p.Thr1169Asn) c.3476C>A (p.Thr1159Asn) | |
| 6 | g.43042969T>A | CA364203111 | CUL7,KLC4 | n.1549A>T c.3478A>T (p.Thr1160Ser) c.*134A>T (n.*134A>T) n.4039A>T c.*1775A>T (n.*1775A>T) n.3761A>T n.4055A>T c.1412-63A>T n.4317A>T c.3574A>T (p.Thr1192Ser) c.1970A>T c.-1003-89T>A (n.-1003-89T>A) c.3730A>T (p.Thr1244Ser) c.3634A>T (p.Thr1212Ser) c.1339A>T (p.Thr447Ser) c.3757A>T (p.Thr1253Ser) c.3661A>T (p.Thr1221Ser) c.3601A>T (p.Thr1201Ser) c.3505A>T (p.Thr1169Ser) c.3475A>T (p.Thr1159Ser) | |
| 6 | g.43042969T>C | CA364203112 | CUL7,KLC4 | n.1549A>G c.3478A>G (p.Thr1160Ala) c.*134A>G (n.*134A>G) n.4039A>G c.*1775A>G (n.*1775A>G) n.3761A>G n.4055A>G c.1412-63A>G n.4317A>G c.3574A>G (p.Thr1192Ala) c.1970A>G c.-1003-89T>C (n.-1003-89T>C) c.3730A>G (p.Thr1244Ala) c.3634A>G (p.Thr1212Ala) c.1339A>G (p.Thr447Ala) c.3757A>G (p.Thr1253Ala) c.3661A>G (p.Thr1221Ala) c.3601A>G (p.Thr1201Ala) c.3505A>G (p.Thr1169Ala) c.3475A>G (p.Thr1159Ala) | |
| 6 | g.43042969T>G | CA364203114 | CUL7,KLC4 | n.1549A>C c.3478A>C (p.Thr1160Pro) c.*134A>C (n.*134A>C) n.4039A>C c.*1775A>C (n.*1775A>C) n.3761A>C n.4055A>C c.1412-63A>C n.4317A>C c.3574A>C (p.Thr1192Pro) c.1970A>C c.-1003-89T>G (n.-1003-89T>G) c.3730A>C (p.Thr1244Pro) c.3634A>C (p.Thr1212Pro) c.1339A>C (p.Thr447Pro) c.3757A>C (p.Thr1253Pro) c.3661A>C (p.Thr1221Pro) c.3601A>C (p.Thr1201Pro) c.3505A>C (p.Thr1169Pro) c.3475A>C (p.Thr1159Pro) | |
| 6 | g.43042969_43042970insTT | CA913110551 | CUL7,KLC4 | n.1549_1550insAA c.3478_3479insAA (p.Thr1160LysfsTer?) c.*134_*135insAA (n.*134_*135insAA) n.4039_4040insAA c.*1775_*1776insAA (n.*1775_*1776insAA) n.3761_3762insAA n.4055_4056insAA c.1412-63_1412-62insAA n.4317_4318insAA c.3574_3575insAA (p.Thr1192LysfsTer?) c.1970_1971insAA c.-1003-89_-1003-88insTT (n.-1003-89_-1003-88insTT) c.3730_3731insAA (p.Thr1244LysfsTer?) c.3634_3635insAA (p.Thr1212LysfsTer?) c.1339_1340insAA (p.Thr447LysfsTer?) c.3757_3758insAA (p.Thr1253LysfsTer?) c.3661_3662insAA (p.Thr1221LysfsTer?) c.3601_3602insAA (p.Thr1201LysfsTer?) c.3505_3506insAA (p.Thr1169LysfsTer?) c.3475_3476insAA (p.Thr1159LysfsTer?) | |
| 6 | g.43042970C>A | CA450369684 | CUL7,KLC4 | n.1548G>T c.3477G>T (p.Leu1159=) c.*133G>T (n.*133G>T) n.4038G>T c.*1774G>T (n.*1774G>T) n.3760G>T n.4054G>T c.1412-64G>T n.4316G>T c.3573G>T (p.Leu1191=) c.1969G>T c.-1003-88C>A (n.-1003-88C>A) c.3729G>T (p.Leu1243=) c.3633G>T (p.Leu1211=) c.1338G>T (p.Leu446=) c.3756G>T (p.Leu1252=) c.3660G>T (p.Leu1220=) c.3600G>T (p.Leu1200=) c.3504G>T (p.Leu1168=) c.3474G>T (p.Leu1158=) | |
| 6 | g.43042970C>G | CA450369685 | CUL7,KLC4 | n.1548G>C c.3477G>C (p.Leu1159=) c.*133G>C (n.*133G>C) n.4038G>C c.*1774G>C (n.*1774G>C) n.3760G>C n.4054G>C c.1412-64G>C n.4316G>C c.3573G>C (p.Leu1191=) c.1969G>C c.-1003-88C>G (n.-1003-88C>G) c.3729G>C (p.Leu1243=) c.3633G>C (p.Leu1211=) c.1338G>C (p.Leu446=) c.3756G>C (p.Leu1252=) c.3660G>C (p.Leu1220=) c.3600G>C (p.Leu1200=) c.3504G>C (p.Leu1168=) c.3474G>C (p.Leu1158=) | |
| 6 | g.43042970C>T | CA450369686 | CUL7,KLC4 | n.1548G>A c.3477G>A (p.Leu1159=) c.*133G>A (n.*133G>A) n.4038G>A c.*1774G>A (n.*1774G>A) n.3760G>A n.4054G>A c.1412-64G>A n.4316G>A c.3573G>A (p.Leu1191=) c.1969G>A c.-1003-88C>T (n.-1003-88C>T) c.3729G>A (p.Leu1243=) c.3633G>A (p.Leu1211=) c.1338G>A (p.Leu446=) c.3756G>A (p.Leu1252=) c.3660G>A (p.Leu1220=) c.3600G>A (p.Leu1200=) c.3504G>A (p.Leu1168=) c.3474G>A (p.Leu1158=) | |
| 6 | g.43042971A>C | CA364203116 | CUL7,KLC4 | n.1547T>G c.3476T>G (p.Leu1159Arg) c.*132T>G (n.*132T>G) n.4037T>G c.*1773T>G (n.*1773T>G) n.3759T>G n.4053T>G c.1412-65T>G n.4315T>G c.3572T>G (p.Leu1191Arg) c.1968T>G c.-1003-87A>C (n.-1003-87A>C) c.3728T>G (p.Leu1243Arg) c.3632T>G (p.Leu1211Arg) c.1337T>G (p.Leu446Arg) c.3755T>G (p.Leu1252Arg) c.3659T>G (p.Leu1220Arg) c.3599T>G (p.Leu1200Arg) c.3503T>G (p.Leu1168Arg) c.3473T>G (p.Leu1158Arg) | |
| 6 | g.43042971A>G | CA364203118 | CUL7,KLC4 | n.1547T>C c.3476T>C (p.Leu1159Pro) c.*132T>C (n.*132T>C) n.4037T>C c.*1773T>C (n.*1773T>C) n.3759T>C n.4053T>C c.1412-65T>C n.4315T>C c.3572T>C (p.Leu1191Pro) c.1968T>C c.-1003-87A>G (n.-1003-87A>G) c.3728T>C (p.Leu1243Pro) c.3632T>C (p.Leu1211Pro) c.1337T>C (p.Leu446Pro) c.3755T>C (p.Leu1252Pro) c.3659T>C (p.Leu1220Pro) c.3599T>C (p.Leu1200Pro) c.3503T>C (p.Leu1168Pro) c.3473T>C (p.Leu1158Pro) | |
| 6 | g.43042971A>T | CA364203119 | CUL7,KLC4 | n.1547T>A c.3476T>A (p.Leu1159Gln) c.*132T>A (n.*132T>A) n.4037T>A c.*1773T>A (n.*1773T>A) n.3759T>A n.4053T>A c.1412-65T>A n.4315T>A c.3572T>A (p.Leu1191Gln) c.1968T>A c.-1003-87A>T (n.-1003-87A>T) c.3728T>A (p.Leu1243Gln) c.3632T>A (p.Leu1211Gln) c.1337T>A (p.Leu446Gln) c.3755T>A (p.Leu1252Gln) c.3659T>A (p.Leu1220Gln) c.3599T>A (p.Leu1200Gln) c.3503T>A (p.Leu1168Gln) c.3473T>A (p.Leu1158Gln) | |
| 6 | g.43042972G>A | CA450369687 | CUL7,KLC4 | n.1546C>T c.3475C>T (p.Leu1159=) c.*131C>T (n.*131C>T) n.4036C>T c.*1772C>T (n.*1772C>T) n.3758C>T n.4052C>T c.1412-66C>T n.4314C>T c.3571C>T (p.Leu1191=) c.1967C>T c.-1003-86G>A (n.-1003-86G>A) c.3727C>T (p.Leu1243=) c.3631C>T (p.Leu1211=) c.1336C>T (p.Leu446=) c.3754C>T (p.Leu1252=) c.3658C>T (p.Leu1220=) c.3598C>T (p.Leu1200=) c.3502C>T (p.Leu1168=) c.3472C>T (p.Leu1158=) | |
| 6 | g.43042972G>C | CA364203121 | CUL7,KLC4 | n.1546C>G c.3475C>G (p.Leu1159Val) c.*131C>G (n.*131C>G) n.4036C>G c.*1772C>G (n.*1772C>G) n.3758C>G n.4052C>G c.1412-66C>G n.4314C>G c.3571C>G (p.Leu1191Val) c.1967C>G c.-1003-86G>C (n.-1003-86G>C) c.3727C>G (p.Leu1243Val) c.3631C>G (p.Leu1211Val) c.1336C>G (p.Leu446Val) c.3754C>G (p.Leu1252Val) c.3658C>G (p.Leu1220Val) c.3598C>G (p.Leu1200Val) c.3502C>G (p.Leu1168Val) c.3472C>G (p.Leu1158Val) | |
| 6 | g.43042972G>T | CA364203123 | CUL7,KLC4 | n.1546C>A c.3475C>A (p.Leu1159Met) c.*131C>A (n.*131C>A) n.4036C>A c.*1772C>A (n.*1772C>A) n.3758C>A n.4052C>A c.1412-66C>A n.4314C>A c.3571C>A (p.Leu1191Met) c.1967C>A c.-1003-86G>T (n.-1003-86G>T) c.3727C>A (p.Leu1243Met) c.3631C>A (p.Leu1211Met) c.1336C>A (p.Leu446Met) c.3754C>A (p.Leu1252Met) c.3658C>A (p.Leu1220Met) c.3598C>A (p.Leu1200Met) c.3502C>A (p.Leu1168Met) c.3472C>A (p.Leu1158Met) | |
| 6 | g.43042973A= | CA1624354902 | CUL7,KLC4 | n.1545T= c.3474T= (p.Phe1158=) c.*130T= (n.*130T=) n.4035T= c.*1771T= (n.*1771T=) n.3757T= n.4051T= c.1412-67T= n.4313T= c.3570T= (p.Phe1190=) c.1966T= c.-1003-85A= (n.-1003-85A=) c.3726T= (p.Phe1242=) c.3630T= (p.Phe1210=) c.1335T= (p.Phe445=) c.3753T= (p.Phe1251=) c.3657T= (p.Phe1219=) c.3597T= (p.Phe1199=) c.3501T= (p.Phe1167=) c.3471T= (p.Phe1157=) | |
| 6 | g.43042973A>C | CA364203125 | CUL7,KLC4 | n.1545T>G c.3474T>G (p.Phe1158Leu) c.*130T>G (n.*130T>G) n.4035T>G c.*1771T>G (n.*1771T>G) n.3757T>G n.4051T>G c.1412-67T>G n.4313T>G c.3570T>G (p.Phe1190Leu) c.1966T>G c.-1003-85A>C (n.-1003-85A>C) c.3726T>G (p.Phe1242Leu) c.3630T>G (p.Phe1210Leu) c.1335T>G (p.Phe445Leu) c.3753T>G (p.Phe1251Leu) c.3657T>G (p.Phe1219Leu) c.3597T>G (p.Phe1199Leu) c.3501T>G (p.Phe1167Leu) c.3471T>G (p.Phe1157Leu) | |
| 6 | g.43042973A>G | CA450369688 | CUL7,KLC4 | n.1545T>C c.3474T>C (p.Phe1158=) c.*130T>C (n.*130T>C) n.4035T>C c.*1771T>C (n.*1771T>C) n.3757T>C n.4051T>C c.1412-67T>C n.4313T>C c.3570T>C (p.Phe1190=) c.1966T>C c.-1003-85A>G (n.-1003-85A>G) c.3726T>C (p.Phe1242=) c.3630T>C (p.Phe1210=) c.1335T>C (p.Phe445=) c.3753T>C (p.Phe1251=) c.3657T>C (p.Phe1219=) c.3597T>C (p.Phe1199=) c.3501T>C (p.Phe1167=) c.3471T>C (p.Phe1157=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.43042973A>T | CA364203126 | CUL7,KLC4 | n.1545T>A c.3474T>A (p.Phe1158Leu) c.*130T>A (n.*130T>A) n.4035T>A c.*1771T>A (n.*1771T>A) n.3757T>A n.4051T>A c.1412-67T>A n.4313T>A c.3570T>A (p.Phe1190Leu) c.1966T>A c.-1003-85A>T (n.-1003-85A>T) c.3726T>A (p.Phe1242Leu) c.3630T>A (p.Phe1210Leu) c.1335T>A (p.Phe445Leu) c.3753T>A (p.Phe1251Leu) c.3657T>A (p.Phe1219Leu) c.3597T>A (p.Phe1199Leu) c.3501T>A (p.Phe1167Leu) c.3471T>A (p.Phe1157Leu) | |
| 6 | g.43042974A>C | CA364203127 | CUL7,KLC4 | n.1544T>G c.3473T>G (p.Phe1158Cys) c.*129T>G (n.*129T>G) n.4034T>G c.*1770T>G (n.*1770T>G) n.3756T>G n.4050T>G c.1412-68T>G n.4312T>G c.3569T>G (p.Phe1190Cys) c.1965T>G c.-1003-84A>C (n.-1003-84A>C) c.3725T>G (p.Phe1242Cys) c.3629T>G (p.Phe1210Cys) c.1334T>G (p.Phe445Cys) c.3752T>G (p.Phe1251Cys) c.3656T>G (p.Phe1219Cys) c.3596T>G (p.Phe1199Cys) c.3500T>G (p.Phe1167Cys) c.3470T>G (p.Phe1157Cys) | |
| 6 | g.43042974A>G | CA364203128 | CUL7,KLC4 | n.1544T>C c.3473T>C (p.Phe1158Ser) c.*129T>C (n.*129T>C) n.4034T>C c.*1770T>C (n.*1770T>C) n.3756T>C n.4050T>C c.1412-68T>C n.4312T>C c.3569T>C (p.Phe1190Ser) c.1965T>C c.-1003-84A>G (n.-1003-84A>G) c.3725T>C (p.Phe1242Ser) c.3629T>C (p.Phe1210Ser) c.1334T>C (p.Phe445Ser) c.3752T>C (p.Phe1251Ser) c.3656T>C (p.Phe1219Ser) c.3596T>C (p.Phe1199Ser) c.3500T>C (p.Phe1167Ser) c.3470T>C (p.Phe1157Ser) | |
| 6 | g.43042974A>T | CA364203129 | CUL7,KLC4 | n.1544T>A c.3473T>A (p.Phe1158Tyr) c.*129T>A (n.*129T>A) n.4034T>A c.*1770T>A (n.*1770T>A) n.3756T>A n.4050T>A c.1412-68T>A n.4312T>A c.3569T>A (p.Phe1190Tyr) c.1965T>A c.-1003-84A>T (n.-1003-84A>T) c.3725T>A (p.Phe1242Tyr) c.3629T>A (p.Phe1210Tyr) c.1334T>A (p.Phe445Tyr) c.3752T>A (p.Phe1251Tyr) c.3656T>A (p.Phe1219Tyr) c.3596T>A (p.Phe1199Tyr) c.3500T>A (p.Phe1167Tyr) c.3470T>A (p.Phe1157Tyr) | |
| 6 | g.43042975A>C | CA364203130 | CUL7,KLC4 | n.1543T>G c.3472T>G (p.Phe1158Val) c.*128T>G (n.*128T>G) n.4033T>G c.*1769T>G (n.*1769T>G) n.3755T>G n.4049T>G c.1412-69T>G n.4311T>G c.3568T>G (p.Phe1190Val) c.1964T>G c.-1003-83A>C (n.-1003-83A>C) c.3724T>G (p.Phe1242Val) c.3628T>G (p.Phe1210Val) c.1333T>G (p.Phe445Val) c.3751T>G (p.Phe1251Val) c.3655T>G (p.Phe1219Val) c.3595T>G (p.Phe1199Val) c.3499T>G (p.Phe1167Val) c.3469T>G (p.Phe1157Val) | |
| 6 | g.43042975A>G | CA364203131 | CUL7,KLC4 | n.1543T>C c.3472T>C (p.Phe1158Leu) c.*128T>C (n.*128T>C) n.4033T>C c.*1769T>C (n.*1769T>C) n.3755T>C n.4049T>C c.1412-69T>C n.4311T>C c.3568T>C (p.Phe1190Leu) c.1964T>C c.-1003-83A>G (n.-1003-83A>G) c.3724T>C (p.Phe1242Leu) c.3628T>C (p.Phe1210Leu) c.1333T>C (p.Phe445Leu) c.3751T>C (p.Phe1251Leu) c.3655T>C (p.Phe1219Leu) c.3595T>C (p.Phe1199Leu) c.3499T>C (p.Phe1167Leu) c.3469T>C (p.Phe1157Leu) | |
| 6 | g.43042975A>T | CA364203132 | CUL7,KLC4 | n.1543T>A c.3472T>A (p.Phe1158Ile) c.*128T>A (n.*128T>A) n.4033T>A c.*1769T>A (n.*1769T>A) n.3755T>A n.4049T>A c.1412-69T>A n.4311T>A c.3568T>A (p.Phe1190Ile) c.1964T>A c.-1003-83A>T (n.-1003-83A>T) c.3724T>A (p.Phe1242Ile) c.3628T>A (p.Phe1210Ile) c.1333T>A (p.Phe445Ile) c.3751T>A (p.Phe1251Ile) c.3655T>A (p.Phe1219Ile) c.3595T>A (p.Phe1199Ile) c.3499T>A (p.Phe1167Ile) c.3469T>A (p.Phe1157Ile) | gnomAD v4 |
| 6 | g.43042976A>C | CA364203133 | CUL7,KLC4 | n.1542T>G c.3471T>G (p.Asn1157Lys) c.*127T>G (n.*127T>G) n.4032T>G c.*1768T>G (n.*1768T>G) n.3754T>G n.4048T>G c.1412-70T>G n.4310T>G c.3567T>G (p.Asn1189Lys) c.1963T>G c.-1003-82A>C (n.-1003-82A>C) c.3723T>G (p.Asn1241Lys) c.3627T>G (p.Asn1209Lys) c.1332T>G (p.Asn444Lys) c.3750T>G (p.Asn1250Lys) c.3654T>G (p.Asn1218Lys) c.3594T>G (p.Asn1198Lys) c.3498T>G (p.Asn1166Lys) c.3468T>G (p.Asn1156Lys) | |
| 6 | g.43042976A>G | CA450369689 | CUL7,KLC4 | n.1542T>C c.3471T>C (p.Asn1157=) c.*127T>C (n.*127T>C) n.4032T>C c.*1768T>C (n.*1768T>C) n.3754T>C n.4048T>C c.1412-70T>C n.4310T>C c.3567T>C (p.Asn1189=) c.1963T>C c.-1003-82A>G (n.-1003-82A>G) c.3723T>C (p.Asn1241=) c.3627T>C (p.Asn1209=) c.1332T>C (p.Asn444=) c.3750T>C (p.Asn1250=) c.3654T>C (p.Asn1218=) c.3594T>C (p.Asn1198=) c.3498T>C (p.Asn1166=) c.3468T>C (p.Asn1156=) | gnomAD v4 |
| 6 | g.43042976A>T | CA364203134 | CUL7,KLC4 | n.1542T>A c.3471T>A (p.Asn1157Lys) c.*127T>A (n.*127T>A) n.4032T>A c.*1768T>A (n.*1768T>A) n.3754T>A n.4048T>A c.1412-70T>A n.4310T>A c.3567T>A (p.Asn1189Lys) c.1963T>A c.-1003-82A>T (n.-1003-82A>T) c.3723T>A (p.Asn1241Lys) c.3627T>A (p.Asn1209Lys) c.1332T>A (p.Asn444Lys) c.3750T>A (p.Asn1250Lys) c.3654T>A (p.Asn1218Lys) c.3594T>A (p.Asn1198Lys) c.3498T>A (p.Asn1166Lys) c.3468T>A (p.Asn1156Lys) | |
| 6 | g.43042977T>A | CA364203135 | CUL7,KLC4 | n.1541A>T c.3470A>T (p.Asn1157Ile) c.*126A>T (n.*126A>T) n.4031A>T c.*1767A>T (n.*1767A>T) n.3753A>T n.4047A>T c.1412-71A>T n.4309A>T c.3566A>T (p.Asn1189Ile) c.1962A>T c.-1003-81T>A (n.-1003-81T>A) c.3722A>T (p.Asn1241Ile) c.3626A>T (p.Asn1209Ile) c.1331A>T (p.Asn444Ile) c.3749A>T (p.Asn1250Ile) c.3653A>T (p.Asn1218Ile) c.3593A>T (p.Asn1198Ile) c.3497A>T (p.Asn1166Ile) c.3467A>T (p.Asn1156Ile) | |
| 6 | g.43042977T>C | CA364203136 | CUL7,KLC4 | n.1541A>G c.3470A>G (p.Asn1157Ser) c.*126A>G (n.*126A>G) n.4031A>G c.*1767A>G (n.*1767A>G) n.3753A>G n.4047A>G c.1412-71A>G n.4309A>G c.3566A>G (p.Asn1189Ser) c.1962A>G c.-1003-81T>C (n.-1003-81T>C) c.3722A>G (p.Asn1241Ser) c.3626A>G (p.Asn1209Ser) c.1331A>G (p.Asn444Ser) c.3749A>G (p.Asn1250Ser) c.3653A>G (p.Asn1218Ser) c.3593A>G (p.Asn1198Ser) c.3497A>G (p.Asn1166Ser) c.3467A>G (p.Asn1156Ser) | ClinVar dbSNP gnomAD v4 |
| 6 | g.43042977T>G | CA364203137 | CUL7,KLC4 | n.1541A>C c.3470A>C (p.Asn1157Thr) c.*126A>C (n.*126A>C) n.4031A>C c.*1767A>C (n.*1767A>C) n.3753A>C n.4047A>C c.1412-71A>C n.4309A>C c.3566A>C (p.Asn1189Thr) c.1962A>C c.-1003-81T>G (n.-1003-81T>G) c.3722A>C (p.Asn1241Thr) c.3626A>C (p.Asn1209Thr) c.1331A>C (p.Asn444Thr) c.3749A>C (p.Asn1250Thr) c.3653A>C (p.Asn1218Thr) c.3593A>C (p.Asn1198Thr) c.3497A>C (p.Asn1166Thr) c.3467A>C (p.Asn1156Thr) | |
| 6 | g.43042978T>A | CA364203138 | CUL7,KLC4 | n.1540A>T c.3469A>T (p.Asn1157Tyr) c.*125A>T (n.*125A>T) n.4030A>T c.*1766A>T (n.*1766A>T) n.3752A>T n.4046A>T c.1412-72A>T n.4308A>T c.3565A>T (p.Asn1189Tyr) c.1961A>T c.-1003-80T>A (n.-1003-80T>A) c.3721A>T (p.Asn1241Tyr) c.3625A>T (p.Asn1209Tyr) c.1330A>T (p.Asn444Tyr) c.3748A>T (p.Asn1250Tyr) c.3652A>T (p.Asn1218Tyr) c.3592A>T (p.Asn1198Tyr) c.3496A>T (p.Asn1166Tyr) c.3466A>T (p.Asn1156Tyr) | |
| 6 | g.43042978T>C | CA364203140 | CUL7,KLC4 | n.1540A>G c.3469A>G (p.Asn1157Asp) c.*125A>G (n.*125A>G) n.4030A>G c.*1766A>G (n.*1766A>G) n.3752A>G n.4046A>G c.1412-72A>G n.4308A>G c.3565A>G (p.Asn1189Asp) c.1961A>G c.-1003-80T>C (n.-1003-80T>C) c.3721A>G (p.Asn1241Asp) c.3625A>G (p.Asn1209Asp) c.1330A>G (p.Asn444Asp) c.3748A>G (p.Asn1250Asp) c.3652A>G (p.Asn1218Asp) c.3592A>G (p.Asn1198Asp) c.3496A>G (p.Asn1166Asp) c.3466A>G (p.Asn1156Asp) | |
| 6 | g.43042978T>G | CA364203139 | CUL7,KLC4 | n.1540A>C c.3469A>C (p.Asn1157His) c.*125A>C (n.*125A>C) n.4030A>C c.*1766A>C (n.*1766A>C) n.3752A>C n.4046A>C c.1412-72A>C n.4308A>C c.3565A>C (p.Asn1189His) c.1961A>C c.-1003-80T>G (n.-1003-80T>G) c.3721A>C (p.Asn1241His) c.3625A>C (p.Asn1209His) c.1330A>C (p.Asn444His) c.3748A>C (p.Asn1250His) c.3652A>C (p.Asn1218His) c.3592A>C (p.Asn1198His) c.3496A>C (p.Asn1166His) c.3466A>C (p.Asn1156His) | |
| 6 | g.43042979G>A | CA450369690 | CUL7,KLC4 | n.1539C>T c.3468C>T (p.Asn1156=) c.*124C>T (n.*124C>T) n.4029C>T c.*1765C>T (n.*1765C>T) n.3751C>T n.4045C>T c.1412-73C>T n.4307C>T c.3564C>T (p.Asn1188=) c.1960C>T c.-1003-79G>A (n.-1003-79G>A) c.3720C>T (p.Asn1240=) c.3624C>T (p.Asn1208=) c.1329C>T (p.Asn443=) c.3747C>T (p.Asn1249=) c.3651C>T (p.Asn1217=) c.3591C>T (p.Asn1197=) c.3495C>T (p.Asn1165=) c.3465C>T (p.Asn1155=) | gnomAD v4 |
| 6 | g.43042979G>C | CA364203141 | CUL7,KLC4 | n.1539C>G c.3468C>G (p.Asn1156Lys) c.*124C>G (n.*124C>G) n.4029C>G c.*1765C>G (n.*1765C>G) n.3751C>G n.4045C>G c.1412-73C>G n.4307C>G c.3564C>G (p.Asn1188Lys) c.1960C>G c.-1003-79G>C (n.-1003-79G>C) c.3720C>G (p.Asn1240Lys) c.3624C>G (p.Asn1208Lys) c.1329C>G (p.Asn443Lys) c.3747C>G (p.Asn1249Lys) c.3651C>G (p.Asn1217Lys) c.3591C>G (p.Asn1197Lys) c.3495C>G (p.Asn1165Lys) c.3465C>G (p.Asn1155Lys) | |
| 6 | g.43042979G>T | CA364203142 | CUL7,KLC4 | n.1539C>A c.3468C>A (p.Asn1156Lys) c.*124C>A (n.*124C>A) n.4029C>A c.*1765C>A (n.*1765C>A) n.3751C>A n.4045C>A c.1412-73C>A n.4307C>A c.3564C>A (p.Asn1188Lys) c.1960C>A c.-1003-79G>T (n.-1003-79G>T) c.3720C>A (p.Asn1240Lys) c.3624C>A (p.Asn1208Lys) c.1329C>A (p.Asn443Lys) c.3747C>A (p.Asn1249Lys) c.3651C>A (p.Asn1217Lys) c.3591C>A (p.Asn1197Lys) c.3495C>A (p.Asn1165Lys) c.3465C>A (p.Asn1155Lys) | |
| 6 | g.43042980T>A | CA364203143 | CUL7,KLC4 | n.1538A>T c.3467A>T (p.Asn1156Ile) c.*123A>T (n.*123A>T) n.4028A>T c.*1764A>T (n.*1764A>T) n.3750A>T n.4044A>T c.1412-74A>T n.4306A>T c.3563A>T (p.Asn1188Ile) c.1959A>T c.-1003-78T>A (n.-1003-78T>A) c.3719A>T (p.Asn1240Ile) c.3623A>T (p.Asn1208Ile) c.1328A>T (p.Asn443Ile) c.3746A>T (p.Asn1249Ile) c.3650A>T (p.Asn1217Ile) c.3590A>T (p.Asn1197Ile) c.3494A>T (p.Asn1165Ile) c.3464A>T (p.Asn1155Ile) | |
| 6 | g.43042980T>C | CA3813462 | CUL7,KLC4 | n.1538A>G c.3467A>G (p.Asn1156Ser) c.*123A>G (n.*123A>G) n.4028A>G c.*1764A>G (n.*1764A>G) n.3750A>G n.4044A>G c.1412-74A>G n.4306A>G c.3563A>G (p.Asn1188Ser) c.1959A>G c.-1003-78T>C (n.-1003-78T>C) c.3719A>G (p.Asn1240Ser) c.3623A>G (p.Asn1208Ser) c.1328A>G (p.Asn443Ser) c.3746A>G (p.Asn1249Ser) c.3650A>G (p.Asn1217Ser) c.3590A>G (p.Asn1197Ser) c.3494A>G (p.Asn1165Ser) c.3464A>G (p.Asn1155Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.43042980T>G | CA364203144 | CUL7,KLC4 | n.1538A>C c.3467A>C (p.Asn1156Thr) c.*123A>C (n.*123A>C) n.4028A>C c.*1764A>C (n.*1764A>C) n.3750A>C n.4044A>C c.1412-74A>C n.4306A>C c.3563A>C (p.Asn1188Thr) c.1959A>C c.-1003-78T>G (n.-1003-78T>G) c.3719A>C (p.Asn1240Thr) c.3623A>C (p.Asn1208Thr) c.1328A>C (p.Asn443Thr) c.3746A>C (p.Asn1249Thr) c.3650A>C (p.Asn1217Thr) c.3590A>C (p.Asn1197Thr) c.3494A>C (p.Asn1165Thr) c.3464A>C (p.Asn1155Thr) | |
| 6 | g.43042980T= | CA1624354903 | CUL7,KLC4 | n.1538A= c.3467A= (p.Asn1156=) c.*123A= (n.*123A=) n.4028A= c.*1764A= (n.*1764A=) n.3750A= n.4044A= c.1412-74A= n.4306A= c.3563A= (p.Asn1188=) c.1959A= c.-1003-78T= (n.-1003-78T=) c.3719A= (p.Asn1240=) c.3623A= (p.Asn1208=) c.1328A= (p.Asn443=) c.3746A= (p.Asn1249=) c.3650A= (p.Asn1217=) c.3590A= (p.Asn1197=) c.3494A= (p.Asn1165=) c.3464A= (p.Asn1155=) | |
| 6 | g.43042981T>A | CA364203145 | CUL7,KLC4 | n.1537A>T c.3466A>T (p.Asn1156Tyr) c.*122A>T (n.*122A>T) n.4027A>T c.*1763A>T (n.*1763A>T) n.3749A>T n.4043A>T c.1412-75A>T n.4305A>T c.3562A>T (p.Asn1188Tyr) c.1958A>T c.-1003-77T>A (n.-1003-77T>A) c.3718A>T (p.Asn1240Tyr) c.3622A>T (p.Asn1208Tyr) c.1327A>T (p.Asn443Tyr) c.3745A>T (p.Asn1249Tyr) c.3649A>T (p.Asn1217Tyr) c.3589A>T (p.Asn1197Tyr) c.3493A>T (p.Asn1165Tyr) c.3463A>T (p.Asn1155Tyr) | |
| 6 | g.43042981T>C | CA364203146 | CUL7,KLC4 | n.1537A>G c.3466A>G (p.Asn1156Asp) c.*122A>G (n.*122A>G) n.4027A>G c.*1763A>G (n.*1763A>G) n.3749A>G n.4043A>G c.1412-75A>G n.4305A>G c.3562A>G (p.Asn1188Asp) c.1958A>G c.-1003-77T>C (n.-1003-77T>C) c.3718A>G (p.Asn1240Asp) c.3622A>G (p.Asn1208Asp) c.1327A>G (p.Asn443Asp) c.3745A>G (p.Asn1249Asp) c.3649A>G (p.Asn1217Asp) c.3589A>G (p.Asn1197Asp) c.3493A>G (p.Asn1165Asp) c.3463A>G (p.Asn1155Asp) | gnomAD v4 |
| 6 | g.43042981T>G | CA364203147 | CUL7,KLC4 | n.1537A>C c.3466A>C (p.Asn1156His) c.*122A>C (n.*122A>C) n.4027A>C c.*1763A>C (n.*1763A>C) n.3749A>C n.4043A>C c.1412-75A>C n.4305A>C c.3562A>C (p.Asn1188His) c.1958A>C c.-1003-77T>G (n.-1003-77T>G) c.3718A>C (p.Asn1240His) c.3622A>C (p.Asn1208His) c.1327A>C (p.Asn443His) c.3745A>C (p.Asn1249His) c.3649A>C (p.Asn1217His) c.3589A>C (p.Asn1197His) c.3493A>C (p.Asn1165His) c.3463A>C (p.Asn1155His) | |
| 6 | g.43042982C>A | CA450369692 | CUL7,KLC4 | n.1536G>T c.3465G>T (p.Val1155=) c.*121G>T (n.*121G>T) n.4026G>T c.*1762G>T (n.*1762G>T) n.3748G>T n.4042G>T c.1412-76G>T n.4304G>T c.3561G>T (p.Val1187=) c.1957G>T c.-1003-76C>A (n.-1003-76C>A) c.3717G>T (p.Val1239=) c.3621G>T (p.Val1207=) c.1326G>T (p.Val442=) c.3744G>T (p.Val1248=) c.3648G>T (p.Val1216=) c.3588G>T (p.Val1196=) c.3492G>T (p.Val1164=) c.3462G>T (p.Val1154=) |