ClinVar Miner

List of variants in gene CTRC studied for Hereditary pancreatitis

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 633
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007272.3(CTRC):c.640-35G>T rs10927786 0.34421
NM_007272.3(CTRC):c.493+51C>A rs10803384 0.21273
NM_007272.3(CTRC):c.493+52G>A rs545634 0.10881
NM_007272.3(CTRC):c.493+49G>C rs6679763 0.04268
NM_007272.3(CTRC):c.*86A>G rs760937 0.02983
NM_007272.3(CTRC):c.514A>G (p.Lys172Glu) rs34949635 0.02786
NM_007272.3(CTRC):c.*83T>C rs75456156 0.02717
NM_007272.3(CTRC):c.285C>T (p.Asp95=) rs41307798 0.02352
NM_007272.3(CTRC):c.230+38C>T rs115742618 0.01455
NM_007272.3(CTRC):c.156C>T (p.Asn52=) rs77373944 0.00830
NM_007272.3(CTRC):c.690G>A (p.Glu230=) rs75971387 0.00820
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_007272.3(CTRC):c.793-42G>A rs201856611 0.00267
NM_007272.3(CTRC):c.793-45G>T rs199740500 0.00267
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_007272.3(CTRC):c.555G>A (p.Thr185=) rs113087202 0.00097
NM_007272.3(CTRC):c.494-6C>T rs111790169 0.00096
NM_007272.3(CTRC):c.357-44C>G rs200242846 0.00093
NM_007272.3(CTRC):c.40+24G>A rs142888713 0.00071
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_007272.3(CTRC):c.231-14C>T rs374364850 0.00046
NM_007272.3(CTRC):c.110G>A (p.Arg37Gln) rs145868278 0.00032
NM_007272.3(CTRC):c.231-15C>G rs1298564824 0.00029
NM_007272.3(CTRC):c.251T>C (p.Val84Ala) rs200369419 0.00028
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
NM_007272.3(CTRC):c.746C>T (p.Pro249Leu) rs142560329 0.00022
NM_007272.3(CTRC):c.540G>T (p.Val180=) rs371479067 0.00021
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_007272.3(CTRC):c.216C>T (p.Ala72=) rs140059353 0.00019
NM_007272.3(CTRC):c.736C>T (p.Arg246Cys) rs200412314 0.00019
NM_007272.3(CTRC):c.27G>A (p.Ala9=) rs374821228 0.00016
NM_007272.3(CTRC):c.747G>A (p.Pro249=) rs150078209 0.00012
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111 0.00009
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr) rs761546594 0.00009
NM_007272.3(CTRC):c.792+12C>A rs371799801 0.00009
NM_007272.3(CTRC):c.40+10G>A rs564455614 0.00008
NM_007272.3(CTRC):c.355C>T (p.Arg119Cys) rs768853400 0.00007
NM_007272.3(CTRC):c.356+17C>G rs376786664 0.00007
NM_007272.3(CTRC):c.484C>T (p.Arg162Cys) rs764908785 0.00007
NM_007272.3(CTRC):c.531G>A (p.Leu177=) rs751747891 0.00007
NM_007272.3(CTRC):c.161C>T (p.Thr54Met) rs559326793 0.00006
NM_007272.3(CTRC):c.39T>C (p.Cys13=) rs747431847 0.00006
NM_007272.3(CTRC):c.41-5C>A rs781284605 0.00006
NM_007272.3(CTRC):c.678C>T (p.Asn226=) rs777608312 0.00006
NM_007272.3(CTRC):c.52G>A (p.Gly18Arg) rs200576965 0.00005
NM_007272.3(CTRC):c.641G>A (p.Gly214Glu) rs1013133526 0.00005
NM_007272.3(CTRC):c.139C>T (p.Leu47Phe) rs769324644 0.00004
NM_007272.3(CTRC):c.164G>A (p.Trp55Ter) rs121909294 0.00004
NM_007272.3(CTRC):c.286G>A (p.Glu96Lys) rs144286923 0.00004
NM_007272.3(CTRC):c.356G>A (p.Arg119His) rs748221308 0.00004
NM_007272.3(CTRC):c.493+3G>A rs772436044 0.00004
NM_007272.3(CTRC):c.549C>T (p.His183=) rs554399153 0.00004
NM_007272.3(CTRC):c.640-13C>T rs368477746 0.00004
NM_007272.3(CTRC):c.767C>G (p.Ser256Cys) rs772573958 0.00004
NM_007272.3(CTRC):c.81C>T (p.Ser27=) rs749455108 0.00004
NM_007272.3(CTRC):c.174G>A (p.Thr58=) rs746721892 0.00003
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg) rs769482036 0.00003
NM_007272.3(CTRC):c.205G>A (p.Val69Ile) rs760911831 0.00003
NM_007272.3(CTRC):c.356+1G>A rs151102347 0.00003
NM_007272.3(CTRC):c.356+7G>C rs773334021 0.00003
NM_007272.3(CTRC):c.485G>A (p.Arg162His) rs775404479 0.00003
NM_007272.3(CTRC):c.616G>A (p.Asp206Asn) rs780097120 0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_007272.3(CTRC):c.69G>A (p.Pro23=) rs756394210 0.00003
NM_007272.3(CTRC):c.737G>A (p.Arg246His) rs147925927 0.00003
NM_007272.3(CTRC):c.84C>T (p.Ala28=) rs779009847 0.00003
NM_007272.3(CTRC):c.109C>T (p.Arg37Trp) rs770675516 0.00002
NM_007272.3(CTRC):c.133-19C>G rs777418401 0.00002
NM_007272.3(CTRC):c.230+6C>T rs1331333297 0.00002
NM_007272.3(CTRC):c.247C>G (p.Arg83Gly) rs747679121 0.00002
NM_007272.3(CTRC):c.35C>T (p.Ala12Val) rs1318452999 0.00002
NM_007272.3(CTRC):c.493+10G>A rs766857870 0.00002
NM_007272.3(CTRC):c.493+13C>G rs754270976 0.00002
NM_007272.3(CTRC):c.494-13A>G rs762842599 0.00002
NM_007272.3(CTRC):c.599T>C (p.Met200Thr) rs1004695259 0.00002
NM_007272.3(CTRC):c.607G>A (p.Ala203Thr) rs750408563 0.00002
NM_007272.3(CTRC):c.768C>T (p.Ser256=) rs778166573 0.00002
NM_007272.3(CTRC):c.82G>A (p.Ala28Thr) rs768414501 0.00002
NM_007272.3(CTRC):c.143A>G (p.Gln48Arg) rs536812916 0.00001
NM_007272.3(CTRC):c.154A>G (p.Asn52Asp) rs1199793577 0.00001
NM_007272.3(CTRC):c.15T>C (p.Thr5=) rs1060504817 0.00001
NM_007272.3(CTRC):c.202T>A (p.Phe68Ile) rs772513025 0.00001
NM_007272.3(CTRC):c.210C>A (p.Leu70=) rs766739002 0.00001
NM_007272.3(CTRC):c.212C>T (p.Thr71Ile) rs560916216 0.00001
NM_007272.3(CTRC):c.22G>A (p.Ala8Thr) rs767349844 0.00001
NM_007272.3(CTRC):c.230+7G>A rs754126755 0.00001
NM_007272.3(CTRC):c.256G>A (p.Val86Met) rs367979183 0.00001
NM_007272.3(CTRC):c.25G>T (p.Ala9Ser) rs749888586 0.00001
NM_007272.3(CTRC):c.264G>A (p.Lys88=) rs575397166 0.00001
NM_007272.3(CTRC):c.26C>T (p.Ala9Val) rs772818172 0.00001
NM_007272.3(CTRC):c.320T>C (p.Ile107Thr) rs1708151410 0.00001
NM_007272.3(CTRC):c.325G>A (p.Val109Ile) rs372127821 0.00001
NM_007272.3(CTRC):c.331A>C (p.Lys111Gln) rs1460120830 0.00001
NM_007272.3(CTRC):c.352T>C (p.Leu118=) rs557582431 0.00001
NM_007272.3(CTRC):c.369C>T (p.Ala123=) rs749606141 0.00001
NM_007272.3(CTRC):c.40+12G>C rs781396039 0.00001
NM_007272.3(CTRC):c.40+18G>A rs1708076823 0.00001
NM_007272.3(CTRC):c.40+4A>G rs1222161661 0.00001
NM_007272.3(CTRC):c.40+7G>A rs369827801 0.00001
NM_007272.3(CTRC):c.41-6C>T rs372788092 0.00001
NM_007272.3(CTRC):c.462C>T (p.Pro154=) rs776457510 0.00001
NM_007272.3(CTRC):c.46A>G (p.Ser16Gly) rs765777463 0.00001
NM_007272.3(CTRC):c.473C>T (p.Thr158Ile) rs1238171999 0.00001
NM_007272.3(CTRC):c.474C>T (p.Thr158=) rs759334187 0.00001
NM_007272.3(CTRC):c.493+38G>A rs1488630264 0.00001
NM_007272.3(CTRC):c.493+9C>T rs199736095 0.00001
NM_007272.3(CTRC):c.494-1G>C rs766917452 0.00001
NM_007272.3(CTRC):c.538G>A (p.Val180Met) rs780050276 0.00001
NM_007272.3(CTRC):c.569A>G (p.Asp190Gly) rs765613993 0.00001
NM_007272.3(CTRC):c.572G>T (p.Trp191Leu) rs753236329 0.00001
NM_007272.3(CTRC):c.58C>T (p.Pro20Ser) rs757630885 0.00001
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser) rs751977111 0.00001
NM_007272.3(CTRC):c.606C>T (p.Cys202=) rs543348635 0.00001
NM_007272.3(CTRC):c.618T>A (p.Asp206Glu) rs749204330 0.00001
NM_007272.3(CTRC):c.631G>A (p.Ala211Thr) rs747965069 0.00001
NM_007272.3(CTRC):c.639+45A>G rs776164776 0.00001
NM_007272.3(CTRC):c.648C>T (p.Ser216=) rs755130943 0.00001
NM_007272.3(CTRC):c.679G>A (p.Gly227Ser) rs567745213 0.00001
NM_007272.3(CTRC):c.68C>T (p.Pro23Leu) rs533967597 0.00001
NM_007272.3(CTRC):c.719G>A (p.Arg240Gln) rs760962602 0.00001
NM_007272.3(CTRC):c.71C>T (p.Pro24Leu) rs1241494944 0.00001
NM_007272.3(CTRC):c.721C>T (p.Arg241Trp) rs771229796 0.00001
NM_007272.3(CTRC):c.752T>C (p.Val251Ala) rs1175956798 0.00001
NM_007272.3(CTRC):c.759C>T (p.Thr253=) rs1325006359 0.00001
NM_007272.3(CTRC):c.769G>A (p.Ala257Thr) rs200406696 0.00001
NM_007272.3(CTRC):c.777C>T (p.Ile259=) rs947267758 0.00001
NM_007272.3(CTRC):c.789C>T (p.Asn263=) rs762952174 0.00001
NM_007272.3(CTRC):c.85C>T (p.Arg29Ter) rs747905422 0.00001
NM_007272.3(CTRC):c.86G>A (p.Arg29Gln) rs772024986 0.00001
GRCh38/hg38 1p36.21(chr1:15438455-15438514)
NC_000001.10:g.(?_15764902)_(15773084_?)dup
NC_000001.10:g.(?_15764951)_(15773094_?)dup
NC_000001.10:g.(?_15764955)_(15773090_?)del
NC_000001.11:g.15445598_15445607del
NM_007272.3(CTRC):c.*28T>G rs1570787748
NM_007272.3(CTRC):c.-1C>T
NM_007272.3(CTRC):c.-2C>T
NM_007272.3(CTRC):c.-59C>T rs183658182
NM_007272.3(CTRC):c.100G>C (p.Glu34Gln)
NM_007272.3(CTRC):c.103G>A (p.Asp35Asn)
NM_007272.3(CTRC):c.106G>T (p.Ala36Ser)
NM_007272.3(CTRC):c.108C>T (p.Ala36=)
NM_007272.3(CTRC):c.111G>A (p.Arg37=)
NM_007272.3(CTRC):c.114C>T (p.Pro38=)
NM_007272.3(CTRC):c.118A>C (p.Ser40Arg)
NM_007272.3(CTRC):c.11T>C (p.Ile4Thr)
NM_007272.3(CTRC):c.120C>A (p.Ser40Arg)
NM_007272.3(CTRC):c.121T>A (p.Trp41Arg)
NM_007272.3(CTRC):c.127T>C (p.Trp43Arg)
NM_007272.3(CTRC):c.129G>A (p.Trp43Ter)
NM_007272.3(CTRC):c.129G>T (p.Trp43Cys)
NM_007272.3(CTRC):c.12C>T (p.Ile4=)
NM_007272.3(CTRC):c.130del (p.Gln44fs) rs1344551908
NM_007272.3(CTRC):c.132+15G>A
NM_007272.3(CTRC):c.132+16G>C
NM_007272.3(CTRC):c.132+16G>T
NM_007272.3(CTRC):c.132+20G>A
NM_007272.3(CTRC):c.132G>A (p.Gln44=)
NM_007272.3(CTRC):c.133-15C>T
NM_007272.3(CTRC):c.133-18C>T
NM_007272.3(CTRC):c.133-1G>T rs1557508272
NM_007272.3(CTRC):c.133A>G (p.Ile45Val)
NM_007272.3(CTRC):c.133A>T (p.Ile45Phe)
NM_007272.3(CTRC):c.134T>A (p.Ile45Asn)
NM_007272.3(CTRC):c.137C>T (p.Ser46Phe)
NM_007272.3(CTRC):c.138C>T (p.Ser46=)
NM_007272.3(CTRC):c.13A>C (p.Thr5Pro)
NM_007272.3(CTRC):c.13A>G (p.Thr5Ala)
NM_007272.3(CTRC):c.13A>T (p.Thr5Ser)
NM_007272.3(CTRC):c.144G>A (p.Gln48=)
NM_007272.3(CTRC):c.145T>C (p.Tyr49His) rs78247007
NM_007272.3(CTRC):c.147C>T (p.Tyr49=)
NM_007272.3(CTRC):c.148C>T (p.Leu50Phe)
NM_007272.3(CTRC):c.150C>G (p.Leu50=)
NM_007272.3(CTRC):c.150C>T (p.Leu50=)
NM_007272.3(CTRC):c.151A>G (p.Lys51Glu)
NM_007272.3(CTRC):c.157G>A (p.Asp53Asn)
NM_007272.3(CTRC):c.157G>C (p.Asp53His)
NM_007272.3(CTRC):c.159C>G (p.Asp53Glu)
NM_007272.3(CTRC):c.162G>A (p.Thr54=)
NM_007272.3(CTRC):c.162G>C (p.Thr54=) rs756090858
NM_007272.3(CTRC):c.162G>T (p.Thr54=)
NM_007272.3(CTRC):c.165G>A (p.Trp55Ter)
NM_007272.3(CTRC):c.168G>A (p.Arg56=)
NM_007272.3(CTRC):c.169C>T (p.His57Tyr)
NM_007272.3(CTRC):c.16G>A (p.Val6Ile)
NM_007272.3(CTRC):c.170A>G (p.His57Arg)
NM_007272.3(CTRC):c.172A>G (p.Thr58Ala)
NM_007272.3(CTRC):c.173C>T (p.Thr58Met)
NM_007272.3(CTRC):c.174G>T (p.Thr58=)
NM_007272.3(CTRC):c.176G>C (p.Cys59Ser)
NM_007272.3(CTRC):c.177T>C (p.Cys59=)
NM_007272.3(CTRC):c.178G>A (p.Gly60Ser)
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.3(CTRC):c.180C>T (p.Gly60=) rs497078
NM_007272.3(CTRC):c.182G>A (p.Gly61Glu)
NM_007272.3(CTRC):c.190_193del (p.Ile64fs)
NM_007272.3(CTRC):c.192T>A (p.Ile64=)
NM_007272.3(CTRC):c.192T>C (p.Ile64=)
NM_007272.3(CTRC):c.194C>T (p.Ala65Val) rs2103289502
NM_007272.3(CTRC):c.197G>A (p.Ser66Asn)
NM_007272.3(CTRC):c.198C>T (p.Ser66=)
NM_007272.3(CTRC):c.19C>T (p.Leu7Phe)
NM_007272.3(CTRC):c.1A>G (p.Met1Val)
NM_007272.3(CTRC):c.200A>G (p.Asn67Ser)
NM_007272.3(CTRC):c.204C>T (p.Phe68=)
NM_007272.3(CTRC):c.205G>T (p.Val69Phe)
NM_007272.3(CTRC):c.209T>C (p.Leu70Pro)
NM_007272.3(CTRC):c.213T>A (p.Thr71=)
NM_007272.3(CTRC):c.213T>C (p.Thr71=)
NM_007272.3(CTRC):c.215C>T (p.Ala72Val)
NM_007272.3(CTRC):c.216C>A (p.Ala72=)
NM_007272.3(CTRC):c.217G>T (p.Ala73Ser) rs515726209
NM_007272.3(CTRC):c.21C>A (p.Leu7=)
NM_007272.3(CTRC):c.21C>T (p.Leu7=) rs1279354220
NM_007272.3(CTRC):c.220C>T (p.His74Tyr) rs1557508393
NM_007272.3(CTRC):c.221A>G (p.His74Arg)
NM_007272.3(CTRC):c.224G>A (p.Cys75Tyr)
NM_007272.3(CTRC):c.226A>C (p.Ile76Leu)
NM_007272.3(CTRC):c.226A>G (p.Ile76Val)
NM_007272.3(CTRC):c.230+17C>G
NM_007272.3(CTRC):c.231-11C>A
NM_007272.3(CTRC):c.231-17C>T
NM_007272.3(CTRC):c.231-2A>G rs1570783505
NM_007272.3(CTRC):c.231-4C>A
NM_007272.3(CTRC):c.231_232insG (p.Asn78fs)
NM_007272.3(CTRC):c.237C>G (p.Thr79=)
NM_007272.3(CTRC):c.238C>T (p.Arg80Trp) rs779643710
NM_007272.3(CTRC):c.239G>A (p.Arg80Gln)
NM_007272.3(CTRC):c.23C>G (p.Ala8Gly)
NM_007272.3(CTRC):c.246C>A (p.Tyr82Ter)
NM_007272.3(CTRC):c.247C>A (p.Arg83Ser)
NM_007272.3(CTRC):c.247C>T (p.Arg83Cys) rs747679121
NM_007272.3(CTRC):c.248G>A (p.Arg83His) rs781768384
NM_007272.3(CTRC):c.248G>T (p.Arg83Leu) rs781768384
NM_007272.3(CTRC):c.249T>C (p.Arg83=) rs1570783555
NM_007272.3(CTRC):c.253G>C (p.Ala85Pro)
NM_007272.3(CTRC):c.253G>T (p.Ala85Ser)
NM_007272.3(CTRC):c.255C>A (p.Ala85=)
NM_007272.3(CTRC):c.255C>T (p.Ala85=)
NM_007272.3(CTRC):c.258G>A (p.Val86=)
NM_007272.3(CTRC):c.260G>A (p.Gly87Glu)
NM_007272.3(CTRC):c.262A>G (p.Lys88Glu)
NM_007272.3(CTRC):c.264G>C (p.Lys88Asn)
NM_007272.3(CTRC):c.268A>T (p.Asn90Tyr)
NM_007272.3(CTRC):c.26C>A (p.Ala9Glu)
NM_007272.3(CTRC):c.270C>G (p.Asn90Lys)
NM_007272.3(CTRC):c.270C>T (p.Asn90=)
NM_007272.3(CTRC):c.271C>A (p.Leu91Met) rs1407562830
NM_007272.3(CTRC):c.272T>C (p.Leu91Pro)
NM_007272.3(CTRC):c.272_273dup (p.Glu92fs)
NM_007272.3(CTRC):c.273G>A (p.Leu91=)
NM_007272.3(CTRC):c.274G>A (p.Glu92Lys)
NM_007272.3(CTRC):c.276G>C (p.Glu92Asp)
NM_007272.3(CTRC):c.277G>A (p.Val93Met)
NM_007272.3(CTRC):c.277G>C (p.Val93Leu)
NM_007272.3(CTRC):c.279G>A (p.Val93=)
NM_007272.3(CTRC):c.27G>C (p.Ala9=)
NM_007272.3(CTRC):c.281A>C (p.Glu94Ala)
NM_007272.3(CTRC):c.286G>C (p.Glu96Gln)
NM_007272.3(CTRC):c.288A>G (p.Glu96=)
NM_007272.3(CTRC):c.289G>A (p.Glu97Lys)
NM_007272.3(CTRC):c.289G>C (p.Glu97Gln)
NM_007272.3(CTRC):c.291A>G (p.Glu97=)
NM_007272.3(CTRC):c.293G>T (p.Gly98Val)
NM_007272.3(CTRC):c.295T>A (p.Ser99Thr)
NM_007272.3(CTRC):c.295T>C (p.Ser99Pro)
NM_007272.3(CTRC):c.297C>T (p.Ser99=)
NM_007272.3(CTRC):c.298C>T (p.Leu100=)
NM_007272.3(CTRC):c.299T>C (p.Leu100Pro)
NM_007272.3(CTRC):c.29T>C (p.Leu10Pro)
NM_007272.3(CTRC):c.2T>C (p.Met1Thr)
NM_007272.3(CTRC):c.302T>C (p.Phe101Ser)
NM_007272.3(CTRC):c.304G>T (p.Val102Leu)
NM_007272.3(CTRC):c.305T>C (p.Val102Ala)
NM_007272.3(CTRC):c.307G>A (p.Gly103Ser)
NM_007272.3(CTRC):c.307G>T (p.Gly103Cys)
NM_007272.3(CTRC):c.308G>T (p.Gly103Val)
NM_007272.3(CTRC):c.308del (p.Gly103fs) rs773119534
NM_007272.3(CTRC):c.30C>G (p.Leu10=)
NM_007272.3(CTRC):c.313G>A (p.Asp105Asn)
NM_007272.3(CTRC):c.316A>G (p.Thr106Ala)
NM_007272.3(CTRC):c.317C>T (p.Thr106Ile)
NM_007272.3(CTRC):c.318C>T (p.Thr106=)
NM_007272.3(CTRC):c.31T>C (p.Leu11=)
NM_007272.3(CTRC):c.322C>T (p.His108Tyr)
NM_007272.3(CTRC):c.324C>A (p.His108Gln)
NM_007272.3(CTRC):c.324C>T (p.His108=)
NM_007272.3(CTRC):c.328C>A (p.His110Asn)
NM_007272.3(CTRC):c.328del (p.His110fs)
NM_007272.3(CTRC):c.329A>G (p.His110Arg)
NM_007272.3(CTRC):c.330C>G (p.His110Gln)
NM_007272.3(CTRC):c.331A>G (p.Lys111Glu)
NM_007272.3(CTRC):c.335G>A (p.Arg112Lys)
NM_007272.3(CTRC):c.336A>T (p.Arg112Ser)
NM_007272.3(CTRC):c.337T>C (p.Trp113Arg)
NM_007272.3(CTRC):c.339G>C (p.Trp113Cys)
NM_007272.3(CTRC):c.33G>A (p.Leu11=)
NM_007272.3(CTRC):c.33G>C (p.Leu11Phe)
NM_007272.3(CTRC):c.341A>G (p.Asn114Ser)
NM_007272.3(CTRC):c.342T>A (p.Asn114Lys)
NM_007272.3(CTRC):c.343G>A (p.Ala115Thr)
NM_007272.3(CTRC):c.344C>T (p.Ala115Val)
NM_007272.3(CTRC):c.345C>T (p.Ala115=)
NM_007272.3(CTRC):c.347T>C (p.Leu116Pro)
NM_007272.3(CTRC):c.348C>T (p.Leu116=)
NM_007272.3(CTRC):c.351G>A (p.Leu117=)
NM_007272.3(CTRC):c.353T>G (p.Leu118Trp)
NM_007272.3(CTRC):c.354G>T (p.Leu118Phe)
NM_007272.3(CTRC):c.355C>G (p.Arg119Gly)
NM_007272.3(CTRC):c.356+17C>T
NM_007272.3(CTRC):c.357-3C>T
NM_007272.3(CTRC):c.360T>C (p.Asn120=)
NM_007272.3(CTRC):c.362A>G (p.Asp121Gly)
NM_007272.3(CTRC):c.363T>C (p.Asp121=)
NM_007272.3(CTRC):c.365T>C (p.Ile122Thr)
NM_007272.3(CTRC):c.366T>C (p.Ile122=)
NM_007272.3(CTRC):c.366T>G (p.Ile122Met)
NM_007272.3(CTRC):c.367G>A (p.Ala123Thr)
NM_007272.3(CTRC):c.368C>T (p.Ala123Val)
NM_007272.3(CTRC):c.369C>G (p.Ala123=)
NM_007272.3(CTRC):c.370C>G (p.Leu124Val)
NM_007272.3(CTRC):c.370C>T (p.Leu124Phe)
NM_007272.3(CTRC):c.371T>A (p.Leu124His)
NM_007272.3(CTRC):c.371T>G (p.Leu124Arg)
NM_007272.3(CTRC):c.372C>T (p.Leu124=)
NM_007272.3(CTRC):c.376A>T (p.Lys126Ter)
NM_007272.3(CTRC):c.379C>T (p.Leu127Phe)
NM_007272.3(CTRC):c.382G>A (p.Ala128Thr)
NM_007272.3(CTRC):c.387G>A (p.Glu129=)
NM_007272.3(CTRC):c.38G>A (p.Cys13Tyr)
NM_007272.3(CTRC):c.392T>G (p.Val131Gly)
NM_007272.3(CTRC):c.396G>A (p.Glu132=)
NM_007272.3(CTRC):c.396G>T (p.Glu132Asp)
NM_007272.3(CTRC):c.397C>T (p.Leu133=)
NM_007272.3(CTRC):c.40+14T>C
NM_007272.3(CTRC):c.40+20T>G
NM_007272.3(CTRC):c.40+6C>T
NM_007272.3(CTRC):c.401G>A (p.Ser134Asn)
NM_007272.3(CTRC):c.403G>A (p.Asp135Asn)
NM_007272.3(CTRC):c.404A>T (p.Asp135Val)
NM_007272.3(CTRC):c.405C>G (p.Asp135Glu)
NM_007272.3(CTRC):c.406A>G (p.Thr136Ala)
NM_007272.3(CTRC):c.407C>T (p.Thr136Ile) rs1302946061
NM_007272.3(CTRC):c.408C>G (p.Thr136=)
NM_007272.3(CTRC):c.409A>C (p.Ile137Leu) rs2103291436
NM_007272.3(CTRC):c.41-11T>C
NM_007272.3(CTRC):c.41-19T>C
NM_007272.3(CTRC):c.41-3dup
NM_007272.3(CTRC):c.411C>A (p.Ile137=)
NM_007272.3(CTRC):c.411C>T (p.Ile137=)
NM_007272.3(CTRC):c.412C>A (p.Gln138Lys)
NM_007272.3(CTRC):c.415G>A (p.Val139Met)
NM_007272.3(CTRC):c.422G>A (p.Cys141Tyr)
NM_007272.3(CTRC):c.423C>T (p.Cys141=)
NM_007272.3(CTRC):c.426G>T (p.Leu142=)
NM_007272.3(CTRC):c.429A>T (p.Pro143=)
NM_007272.3(CTRC):c.429_430delinsTGGC (p.Glu144fs) rs1570784592
NM_007272.3(CTRC):c.42C>G (p.Ala14=)
NM_007272.3(CTRC):c.431A>G (p.Glu144Gly)
NM_007272.3(CTRC):c.434A>G (p.Lys145Arg)
NM_007272.3(CTRC):c.436G>A (p.Asp146Asn)
NM_007272.3(CTRC):c.437A>T (p.Asp146Val)
NM_007272.3(CTRC):c.437del (p.Asp146fs)
NM_007272.3(CTRC):c.438C>T (p.Asp146=)
NM_007272.3(CTRC):c.440C>G (p.Ser147Cys)
NM_007272.3(CTRC):c.442C>G (p.Leu148Val)
NM_007272.3(CTRC):c.442C>T (p.Leu148=)
NM_007272.3(CTRC):c.443T>A (p.Leu148Gln)
NM_007272.3(CTRC):c.445C>T (p.Leu149Phe)
NM_007272.3(CTRC):c.447C>T (p.Leu149=)
NM_007272.3(CTRC):c.449C>T (p.Pro150Leu)
NM_007272.3(CTRC):c.450C>T (p.Pro150=)
NM_007272.3(CTRC):c.452A>G (p.Lys151Arg)
NM_007272.3(CTRC):c.453G>T (p.Lys151Asn)
NM_007272.3(CTRC):c.454G>T (p.Asp152Tyr)
NM_007272.3(CTRC):c.455A>C (p.Asp152Ala)
NM_007272.3(CTRC):c.459C>T (p.Tyr153=)
NM_007272.3(CTRC):c.45C>T (p.Ser15=)
NM_007272.3(CTRC):c.460C>G (p.Pro154Ala)
NM_007272.3(CTRC):c.462C>A (p.Pro154=)
NM_007272.3(CTRC):c.464G>A (p.Cys155Tyr)
NM_007272.3(CTRC):c.465C>T (p.Cys155=)
NM_007272.3(CTRC):c.466T>C (p.Tyr156His)
NM_007272.3(CTRC):c.471C>G (p.Val157=)
NM_007272.3(CTRC):c.475G>A (p.Gly159Ser)
NM_007272.3(CTRC):c.475G>T (p.Gly159Cys)
NM_007272.3(CTRC):c.477C>T (p.Gly159=)
NM_007272.3(CTRC):c.47G>A (p.Ser16Asn)
NM_007272.3(CTRC):c.47G>T (p.Ser16Ile)
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)
NM_007272.3(CTRC):c.483C>T (p.Gly161=)
NM_007272.3(CTRC):c.485G>T (p.Arg162Leu)
NM_007272.3(CTRC):c.48C>G (p.Ser16Arg)
NM_007272.3(CTRC):c.48C>T (p.Ser16=)
NM_007272.3(CTRC):c.490T>C (p.Trp164Arg)
NM_007272.3(CTRC):c.490_491del (p.Trp164fs) rs2103291536
NM_007272.3(CTRC):c.491G>C (p.Trp164Ser)
NM_007272.3(CTRC):c.492G>T (p.Trp164Cys)
NM_007272.3(CTRC):c.493+16G>A
NM_007272.3(CTRC):c.493+2T>C
NM_007272.3(CTRC):c.493+3_493+6del
NM_007272.3(CTRC):c.494-10C>T
NM_007272.3(CTRC):c.494-19C>G
NM_007272.3(CTRC):c.494-1G>A
NM_007272.3(CTRC):c.494-2A>G rs1708187577
NM_007272.3(CTRC):c.496A>C (p.Asn166His)
NM_007272.3(CTRC):c.497A>G (p.Asn166Ser)
NM_007272.3(CTRC):c.498C>A (p.Asn166Lys)
NM_007272.3(CTRC):c.498C>T (p.Asn166=)
NM_007272.3(CTRC):c.499G>A (p.Gly167Ser) rs141205711
NM_007272.3(CTRC):c.499G>C (p.Gly167Arg) rs141205711
NM_007272.3(CTRC):c.501C>A (p.Gly167=)
NM_007272.3(CTRC):c.502C>G (p.Pro168Ala)
NM_007272.3(CTRC):c.503C>T (p.Pro168Leu)
NM_007272.3(CTRC):c.506T>C (p.Ile169Thr)
NM_007272.3(CTRC):c.510T>C (p.Ala170=)
NM_007272.3(CTRC):c.516G>A (p.Lys172=)
NM_007272.3(CTRC):c.518T>C (p.Leu173Pro)
NM_007272.3(CTRC):c.519G>A (p.Leu173=)
NM_007272.3(CTRC):c.519G>T (p.Leu173=)
NM_007272.3(CTRC):c.520C>T (p.Gln174Ter)
NM_007272.3(CTRC):c.521A>G (p.Gln174Arg)
NM_007272.3(CTRC):c.522G>C (p.Gln174His) rs2103292282
NM_007272.3(CTRC):c.525G>A (p.Gln175=)
NM_007272.3(CTRC):c.527G>A (p.Gly176Asp)
NM_007272.3(CTRC):c.528C>T (p.Gly176=)
NM_007272.3(CTRC):c.531G>C (p.Leu177=)
NM_007272.3(CTRC):c.531G>T (p.Leu177=)
NM_007272.3(CTRC):c.532C>G (p.Gln178Glu)
NM_007272.3(CTRC):c.536C>G (p.Pro179Arg)
NM_007272.3(CTRC):c.537C>G (p.Pro179=)
NM_007272.3(CTRC):c.537C>T (p.Pro179=)
NM_007272.3(CTRC):c.539T>C (p.Val180Ala)
NM_007272.3(CTRC):c.540G>C (p.Val180=)
NM_007272.3(CTRC):c.546T>C (p.Asp182=)
NM_007272.3(CTRC):c.547C>A (p.His183Asn)
NM_007272.3(CTRC):c.549C>A (p.His183Gln)
NM_007272.3(CTRC):c.54G>A (p.Gly18=)
NM_007272.3(CTRC):c.550G>C (p.Ala184Pro)
NM_007272.3(CTRC):c.551C>G (p.Ala184Gly)
NM_007272.3(CTRC):c.551C>T (p.Ala184Val)
NM_007272.3(CTRC):c.552C>G (p.Ala184=) rs888159659
NM_007272.3(CTRC):c.552C>T (p.Ala184=)
NM_007272.3(CTRC):c.554C>T (p.Thr185Met)
NM_007272.3(CTRC):c.555G>T (p.Thr185=)
NM_007272.3(CTRC):c.55G>A (p.Val19Met)
NM_007272.3(CTRC):c.55G>T (p.Val19Leu)
NM_007272.3(CTRC):c.560C>G (p.Ser187Cys) rs1355039968
NM_007272.3(CTRC):c.562A>C (p.Arg188=)
NM_007272.3(CTRC):c.566T>C (p.Ile189Thr)
NM_007272.3(CTRC):c.56T>C (p.Val19Ala)
NM_007272.3(CTRC):c.574T>A (p.Trp192Arg)
NM_007272.3(CTRC):c.576_588del (p.Trp191_Trp192insTer)
NM_007272.3(CTRC):c.577G>A (p.Gly193Ser)
NM_007272.3(CTRC):c.577G>T (p.Gly193Cys)
NM_007272.3(CTRC):c.578G>A (p.Gly193Asp)
NM_007272.3(CTRC):c.57dup (p.Pro20fs)
NM_007272.3(CTRC):c.582C>T (p.Phe194=)
NM_007272.3(CTRC):c.583A>G (p.Arg195Gly) rs1708189840
NM_007272.3(CTRC):c.584G>C (p.Arg195Thr)
NM_007272.3(CTRC):c.585G>A (p.Arg195=)
NM_007272.3(CTRC):c.586G>A (p.Val196Met)
NM_007272.3(CTRC):c.594A>G (p.Lys198=)
NM_007272.3(CTRC):c.595A>C (p.Thr199Pro)
NM_007272.3(CTRC):c.595A>G (p.Thr199Ala)
NM_007272.3(CTRC):c.596C>T (p.Thr199Ile)
NM_007272.3(CTRC):c.598A>G (p.Met200Val)
NM_007272.3(CTRC):c.5T>G (p.Leu2Trp)
NM_007272.3(CTRC):c.600G>C (p.Met200Ile)
NM_007272.3(CTRC):c.602T>A (p.Val201Glu)
NM_007272.3(CTRC):c.602T>C (p.Val201Ala)
NM_007272.3(CTRC):c.605G>A (p.Cys202Tyr)
NM_007272.3(CTRC):c.607G>T (p.Ala203Ser)
NM_007272.3(CTRC):c.609T>G (p.Ala203=)
NM_007272.3(CTRC):c.611G>A (p.Gly204Glu)
NM_007272.3(CTRC):c.613G>A (p.Gly205Ser)
NM_007272.3(CTRC):c.614G>A (p.Gly205Asp)
NM_007272.3(CTRC):c.614G>T (p.Gly205Val)
NM_007272.3(CTRC):c.615C>T (p.Gly205=) rs756236720
NM_007272.3(CTRC):c.618T>C (p.Asp206=)
NM_007272.3(CTRC):c.620G>A (p.Gly207Asp)
NM_007272.3(CTRC):c.621C>T (p.Gly207=)
NM_007272.3(CTRC):c.622G>A (p.Val208Ile)
NM_007272.3(CTRC):c.625A>G (p.Ile209Val)
NM_007272.3(CTRC):c.625A>T (p.Ile209Phe)
NM_007272.3(CTRC):c.627dup (p.Ser210fs)
NM_007272.3(CTRC):c.628T>C (p.Ser210Pro) rs1570785775
NM_007272.3(CTRC):c.633C>T (p.Ala211=)
NM_007272.3(CTRC):c.635G>A (p.Cys212Tyr)
NM_007272.3(CTRC):c.636C>T (p.Cys212=)
NM_007272.3(CTRC):c.638A>G (p.Asn213Ser) rs886045375
NM_007272.3(CTRC):c.639+13G>A
NM_007272.3(CTRC):c.639+2T>A
NM_007272.3(CTRC):c.63C>T (p.Ser21=)
NM_007272.3(CTRC):c.640-11G>T
NM_007272.3(CTRC):c.640-34del rs373970317
NM_007272.3(CTRC):c.640-40G>C rs191025876
NM_007272.3(CTRC):c.640-40G>T rs191025876
NM_007272.3(CTRC):c.640-41G>T rs186735838
NM_007272.3(CTRC):c.640-42G>C rs199897030
NM_007272.3(CTRC):c.640-6G>A
NM_007272.3(CTRC):c.642G>A (p.Gly214=) rs1265655451
NM_007272.3(CTRC):c.643G>A (p.Asp215Asn) rs1708203951
NM_007272.3(CTRC):c.643G>C (p.Asp215His)
NM_007272.3(CTRC):c.645C>A (p.Asp215Glu)
NM_007272.3(CTRC):c.647C>T (p.Ser216Phe)
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg) rs202058123
NM_007272.3(CTRC):c.64T>C (p.Phe22Leu)
NM_007272.3(CTRC):c.653G>A (p.Gly218Asp)
NM_007272.3(CTRC):c.654C>T (p.Gly218=)
NM_007272.3(CTRC):c.656C>T (p.Pro219Leu)
NM_007272.3(CTRC):c.659T>C (p.Leu220Pro)
NM_007272.3(CTRC):c.660G>A (p.Leu220=)
NM_007272.3(CTRC):c.660G>C (p.Leu220=)
NM_007272.3(CTRC):c.664T>C (p.Cys222Arg) rs1570786538
NM_007272.3(CTRC):c.666C>T (p.Cys222=)
NM_007272.3(CTRC):c.667C>G (p.Gln223Glu)
NM_007272.3(CTRC):c.668A>G (p.Gln223Arg)
NM_007272.3(CTRC):c.669G>A (p.Gln223=)
NM_007272.3(CTRC):c.669G>C (p.Gln223His) rs752651686
NM_007272.3(CTRC):c.66C>T (p.Phe22=)
NM_007272.3(CTRC):c.670T>C (p.Leu224=)
NM_007272.3(CTRC):c.670T>G (p.Leu224Val)
NM_007272.3(CTRC):c.672G>A (p.Leu224=) rs2103293066
NM_007272.3(CTRC):c.672G>T (p.Leu224Phe)
NM_007272.3(CTRC):c.675G>A (p.Glu225=)
NM_007272.3(CTRC):c.681T>A (p.Gly227=) rs1389820334
NM_007272.3(CTRC):c.681T>C (p.Gly227=)
NM_007272.3(CTRC):c.683C>A (p.Ser228Tyr)
NM_007272.3(CTRC):c.688G>A (p.Glu230Lys)
NM_007272.3(CTRC):c.68C>G (p.Pro23Arg)
NM_007272.3(CTRC):c.691G>T (p.Val231Leu)
NM_007272.3(CTRC):c.695T>C (p.Phe232Ser)
NM_007272.3(CTRC):c.698G>A (p.Gly233Asp)
NM_007272.3(CTRC):c.698G>T (p.Gly233Val)
NM_007272.3(CTRC):c.699C>T (p.Gly233=)
NM_007272.3(CTRC):c.69G>T (p.Pro23=)
NM_007272.3(CTRC):c.6G>A (p.Leu2=)
NM_007272.3(CTRC):c.700A>G (p.Ile234Val)
NM_007272.3(CTRC):c.702C>A (p.Ile234=)
NM_007272.3(CTRC):c.702C>T (p.Ile234=)
NM_007272.3(CTRC):c.705C>T (p.Val235=)
NM_007272.3(CTRC):c.707G>C (p.Ser236Thr)
NM_007272.3(CTRC):c.714C>G (p.Gly238=)
NM_007272.3(CTRC):c.716C>G (p.Ser239Cys)
NM_007272.3(CTRC):c.716C>T (p.Ser239Phe) rs1708205861
NM_007272.3(CTRC):c.717C>T (p.Ser239=)
NM_007272.3(CTRC):c.718C>A (p.Arg240=)
NM_007272.3(CTRC):c.718C>T (p.Arg240Trp)
NM_007272.3(CTRC):c.721C>A (p.Arg241=)
NM_007272.3(CTRC):c.721C>G (p.Arg241Gly)
NM_007272.3(CTRC):c.722G>A (p.Arg241Gln)
NM_007272.3(CTRC):c.722G>T (p.Arg241Leu)
NM_007272.3(CTRC):c.725G>A (p.Gly242Asp)
NM_007272.3(CTRC):c.72C>T (p.Pro24=)
NM_007272.3(CTRC):c.730A>C (p.Asn244His)
NM_007272.3(CTRC):c.730A>G (p.Asn244Asp)
NM_007272.3(CTRC):c.735C>T (p.Thr245=)
NM_007272.3(CTRC):c.736C>G (p.Arg246Gly)
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu) rs147925927
NM_007272.3(CTRC):c.738C>A (p.Arg246=)
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) rs515726210
NM_007272.3(CTRC):c.73A>G (p.Asn25Asp)
NM_007272.3(CTRC):c.740A>G (p.Lys247Arg)
NM_007272.3(CTRC):c.741G>A (p.Lys247=)
NM_007272.3(CTRC):c.742A>G (p.Lys248Glu)
NM_007272.3(CTRC):c.743A>G (p.Lys248Arg)
NM_007272.3(CTRC):c.744G>A (p.Lys248=)
NM_007272.3(CTRC):c.745C>T (p.Pro249Ser)
NM_007272.3(CTRC):c.747G>T (p.Pro249=) rs150078209
NM_007272.3(CTRC):c.750A>G (p.Val250=)
NM_007272.3(CTRC):c.750A>T (p.Val250=)
NM_007272.3(CTRC):c.753C>A (p.Val251=)
NM_007272.3(CTRC):c.753C>G (p.Val251=)
NM_007272.3(CTRC):c.753_754insAACACCCGCAAGAAGCCGGTACTC (p.Val251_Tyr252insAsnThrArgLysLysProValLeu)
NM_007272.3(CTRC):c.756C>T (p.Tyr252=)
NM_007272.3(CTRC):c.757A>G (p.Thr253Ala)
NM_007272.3(CTRC):c.758C>A (p.Thr253Asn)
NM_007272.3(CTRC):c.758C>T (p.Thr253Ile) rs780783336
NM_007272.3(CTRC):c.761G>A (p.Arg254Gln) rs755811899
NM_007272.3(CTRC):c.761G>C (p.Arg254Pro) rs755811899
NM_007272.3(CTRC):c.762G>A (p.Arg254=)
NM_007272.3(CTRC):c.762G>C (p.Arg254=)
NM_007272.3(CTRC):c.763G>A (p.Val255Met)
NM_007272.3(CTRC):c.763G>C (p.Val255Leu)
NM_007272.3(CTRC):c.764T>G (p.Val255Gly)
NM_007272.3(CTRC):c.765G>A (p.Val255=) rs1570786781
NM_007272.3(CTRC):c.76C>T (p.Leu26=)
NM_007272.3(CTRC):c.770C>T (p.Ala257Val)
NM_007272.3(CTRC):c.774C>G (p.Tyr258Ter)
NM_007272.3(CTRC):c.774C>T (p.Tyr258=)
NM_007272.3(CTRC):c.776T>C (p.Ile259Thr)
NM_007272.3(CTRC):c.778G>A (p.Asp260Asn)
NM_007272.3(CTRC):c.778G>C (p.Asp260His)
NM_007272.3(CTRC):c.778G>T (p.Asp260Tyr) rs540753875
NM_007272.3(CTRC):c.779A>G (p.Asp260Gly)
NM_007272.3(CTRC):c.77T>C (p.Leu26Pro)
NM_007272.3(CTRC):c.781T>C (p.Trp261Arg)
NM_007272.3(CTRC):c.783G>A (p.Trp261Ter)
NM_007272.3(CTRC):c.783G>T (p.Trp261Cys)
NM_007272.3(CTRC):c.784A>T (p.Ile262Phe)
NM_007272.3(CTRC):c.788A>C (p.Asn263Thr)
NM_007272.3(CTRC):c.788A>G (p.Asn263Ser) rs769975164
NM_007272.3(CTRC):c.789C>G (p.Asn263Lys)
NM_007272.3(CTRC):c.78A>G (p.Leu26=)
NM_007272.3(CTRC):c.790G>A (p.Glu264Lys)
NM_007272.3(CTRC):c.790G>C (p.Glu264Gln)
NM_007272.3(CTRC):c.791A>G (p.Glu264Gly)
NM_007272.3(CTRC):c.792+10G>A rs1301778392
NM_007272.3(CTRC):c.792+13T>A
NM_007272.3(CTRC):c.792+19G>A
NM_007272.3(CTRC):c.793-18T>A rs1708224385
NM_007272.3(CTRC):c.797T>G (p.Met266Arg) rs1708224626
NM_007272.3(CTRC):c.798G>C (p.Met266Ile)
NM_007272.3(CTRC):c.7G>T (p.Gly3Cys)
NM_007272.3(CTRC):c.800A>G (p.Gln267Arg)
NM_007272.3(CTRC):c.801G>A (p.Gln267=)
NM_007272.3(CTRC):c.803T>A (p.Leu268Gln) rs886045376
NM_007272.3(CTRC):c.804G>C (p.Leu268=)
NM_007272.3(CTRC):c.805T>C (p.Ter269Arg) rs1570787652
NM_007272.3(CTRC):c.82G>T (p.Ala28Ser)
NM_007272.3(CTRC):c.83C>T (p.Ala28Val)
NM_007272.3(CTRC):c.85C>A (p.Arg29=)
NM_007272.3(CTRC):c.86G>C (p.Arg29Pro)
NM_007272.3(CTRC):c.86G>T (p.Arg29Leu) rs772024986
NM_007272.3(CTRC):c.89T>C (p.Val30Ala)
NM_007272.3(CTRC):c.8G>A (p.Gly3Asp)
NM_007272.3(CTRC):c.90G>A (p.Val30=)
NM_007272.3(CTRC):c.91G>A (p.Val31Met)
NM_007272.3(CTRC):c.93G>A (p.Val31=)
NM_007272.3(CTRC):c.95G>A (p.Gly32Glu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.