Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.115970613A=CA2065410887MED13Lc.6048T= (p.Asp2016=)
n.2262T=
n.4416T=
n.5812T=
n.4233T=
n.4059T=
c.4232T=
c.2537T=
c.6084T= (p.Asp2028=)
c.6081T= (p.Asp2027=)
c.6054T= (p.Asp2018=)
c.6045T= (p.Asp2015=)
12g.115970613A>CCA386876110MED13Lc.6048T>G (p.Asp2016Glu)
n.2262T>G
n.4416T>G
n.5812T>G
n.4233T>G
n.4059T>G
c.4232T>G
c.2537T>G
c.6084T>G (p.Asp2028Glu)
c.6081T>G (p.Asp2027Glu)
c.6054T>G (p.Asp2018Glu)
c.6045T>G (p.Asp2015Glu)
12g.115970613A>GCA481943141MED13Lc.6048T>C (p.Asp2016=)
n.2262T>C
n.4416T>C
n.5812T>C
n.4233T>C
n.4059T>C
c.4232T>C
c.2537T>C
c.6084T>C (p.Asp2028=)
c.6081T>C (p.Asp2027=)
c.6054T>C (p.Asp2018=)
c.6045T>C (p.Asp2015=)
 dbSNP gnomAD v2 gnomAD v4
12g.115970613A>TCA386876111MED13Lc.6048T>A (p.Asp2016Glu)
n.2262T>A
n.4416T>A
n.5812T>A
n.4233T>A
n.4059T>A
c.4232T>A
c.2537T>A
c.6084T>A (p.Asp2028Glu)
c.6081T>A (p.Asp2027Glu)
c.6054T>A (p.Asp2018Glu)
c.6045T>A (p.Asp2015Glu)
12g.115970614T>ACA386876112MED13Lc.6047A>T (p.Asp2016Val)
n.2261A>T
n.4415A>T
n.5811A>T
n.4232A>T
n.4058A>T
c.4231A>T
c.2536A>T
c.6083A>T (p.Asp2028Val)
c.6080A>T (p.Asp2027Val)
c.6053A>T (p.Asp2018Val)
c.6044A>T (p.Asp2015Val)
12g.115970614T>CCA386876113MED13Lc.6047A>G (p.Asp2016Gly)
n.2261A>G
n.4415A>G
n.5811A>G
n.4232A>G
n.4058A>G
c.4231A>G
c.2536A>G
c.6083A>G (p.Asp2028Gly)
c.6080A>G (p.Asp2027Gly)
c.6053A>G (p.Asp2018Gly)
c.6044A>G (p.Asp2015Gly)
12g.115970614T>GCA386876114MED13Lc.6047A>C (p.Asp2016Ala)
n.2261A>C
n.4415A>C
n.5811A>C
n.4232A>C
n.4058A>C
c.4231A>C
c.2536A>C
c.6083A>C (p.Asp2028Ala)
c.6080A>C (p.Asp2027Ala)
c.6053A>C (p.Asp2018Ala)
c.6044A>C (p.Asp2015Ala)
12g.115970615C>ACA386876115MED13Lc.6046G>T (p.Asp2016Tyr)
n.2260G>T
n.4414G>T
n.5810G>T
n.4231G>T
n.4057G>T
c.4230G>T
c.2535G>T
c.6082G>T (p.Asp2028Tyr)
c.6079G>T (p.Asp2027Tyr)
c.6052G>T (p.Asp2018Tyr)
c.6043G>T (p.Asp2015Tyr)
12g.115970615C>GCA386876116MED13Lc.6046G>C (p.Asp2016His)
n.2260G>C
n.4414G>C
n.5810G>C
n.4231G>C
n.4057G>C
c.4230G>C
c.2535G>C
c.6082G>C (p.Asp2028His)
c.6079G>C (p.Asp2027His)
c.6052G>C (p.Asp2018His)
c.6043G>C (p.Asp2015His)
12g.115970615C>TCA386876117MED13Lc.6046G>A (p.Asp2016Asn)
n.2260G>A
n.4414G>A
n.5810G>A
n.4231G>A
n.4057G>A
c.4230G>A
c.2535G>A
c.6082G>A (p.Asp2028Asn)
c.6079G>A (p.Asp2027Asn)
c.6052G>A (p.Asp2018Asn)
c.6043G>A (p.Asp2015Asn)
12g.115970616T>ACA386876118MED13Lc.6045A>T (p.Glu2015Asp)
n.2259A>T
n.4413A>T
n.5809A>T
n.4230A>T
n.4056A>T
c.4229A>T
c.2534A>T
c.6081A>T (p.Glu2027Asp)
c.6078A>T (p.Glu2026Asp)
c.6051A>T (p.Glu2017Asp)
c.6042A>T (p.Glu2014Asp)
12g.115970616T>CCA481943143MED13Lc.6045A>G (p.Glu2015=)
n.2259A>G
n.4413A>G
n.5809A>G
n.4230A>G
n.4056A>G
c.4229A>G
c.2534A>G
c.6081A>G (p.Glu2027=)
c.6078A>G (p.Glu2026=)
c.6051A>G (p.Glu2017=)
c.6042A>G (p.Glu2014=)
12g.115970616T>GCA386876119MED13Lc.6045A>C (p.Glu2015Asp)
n.2259A>C
n.4413A>C
n.5809A>C
n.4230A>C
n.4056A>C
c.4229A>C
c.2534A>C
c.6081A>C (p.Glu2027Asp)
c.6078A>C (p.Glu2026Asp)
c.6051A>C (p.Glu2017Asp)
c.6042A>C (p.Glu2014Asp)
12g.115970617T>ACA386876120MED13Lc.6044A>T (p.Glu2015Val)
n.2258A>T
n.4412A>T
n.5808A>T
n.4229A>T
n.4055A>T
c.4228A>T
c.2533A>T
c.6080A>T (p.Glu2027Val)
c.6077A>T (p.Glu2026Val)
c.6050A>T (p.Glu2017Val)
c.6041A>T (p.Glu2014Val)
12g.115970617T>CCA386876121MED13Lc.6044A>G (p.Glu2015Gly)
n.2258A>G
n.4412A>G
n.5808A>G
n.4229A>G
n.4055A>G
c.4228A>G
c.2533A>G
c.6080A>G (p.Glu2027Gly)
c.6077A>G (p.Glu2026Gly)
c.6050A>G (p.Glu2017Gly)
c.6041A>G (p.Glu2014Gly)
12g.115970617T>GCA386876122MED13Lc.6044A>C (p.Glu2015Ala)
n.2258A>C
n.4412A>C
n.5808A>C
n.4229A>C
n.4055A>C
c.4228A>C
c.2533A>C
c.6080A>C (p.Glu2027Ala)
c.6077A>C (p.Glu2026Ala)
c.6050A>C (p.Glu2017Ala)
c.6041A>C (p.Glu2014Ala)
12g.115970618C>ACA386876125MED13Lc.6043G>T (p.Glu2015Ter)
n.2257G>T
n.4411G>T
n.5807G>T
n.4228G>T
n.4054G>T
c.4227G>T
c.2532G>T
c.6079G>T (p.Glu2027Ter)
c.6076G>T (p.Glu2026Ter)
c.6049G>T (p.Glu2017Ter)
c.6040G>T (p.Glu2014Ter)
12g.115970618C>GCA386876123MED13Lc.6043G>C (p.Glu2015Gln)
n.2257G>C
n.4411G>C
n.5807G>C
n.4228G>C
n.4054G>C
c.4227G>C
c.2532G>C
c.6079G>C (p.Glu2027Gln)
c.6076G>C (p.Glu2026Gln)
c.6049G>C (p.Glu2017Gln)
c.6040G>C (p.Glu2014Gln)
12g.115970618C>TCA386876124MED13Lc.6043G>A (p.Glu2015Lys)
n.2257G>A
n.4411G>A
n.5807G>A
n.4228G>A
n.4054G>A
c.4227G>A
c.2532G>A
c.6079G>A (p.Glu2027Lys)
c.6076G>A (p.Glu2026Lys)
c.6049G>A (p.Glu2017Lys)
c.6040G>A (p.Glu2014Lys)
12g.115970619A>CCA386876126MED13Lc.6042T>G (p.Asn2014Lys)
n.2256T>G
n.4410T>G
n.5806T>G
n.4227T>G
n.4053T>G
c.4226T>G
c.2531T>G
c.6078T>G (p.Asn2026Lys)
c.6075T>G (p.Asn2025Lys)
c.6048T>G (p.Asn2016Lys)
c.6039T>G (p.Asn2013Lys)
12g.115970619A>GCA481943146MED13Lc.6042T>C (p.Asn2014=)
n.2256T>C
n.4410T>C
n.5806T>C
n.4227T>C
n.4053T>C
c.4226T>C
c.2531T>C
c.6078T>C (p.Asn2026=)
c.6075T>C (p.Asn2025=)
c.6048T>C (p.Asn2016=)
c.6039T>C (p.Asn2013=)
12g.115970619A>TCA386876127MED13Lc.6042T>A (p.Asn2014Lys)
n.2256T>A
n.4410T>A
n.5806T>A
n.4227T>A
n.4053T>A
c.4226T>A
c.2531T>A
c.6078T>A (p.Asn2026Lys)
c.6075T>A (p.Asn2025Lys)
c.6048T>A (p.Asn2016Lys)
c.6039T>A (p.Asn2013Lys)
12g.115970620T>ACA386876128MED13Lc.6041A>T (p.Asn2014Ile)
n.2255A>T
n.4409A>T
n.5805A>T
n.4226A>T
n.4052A>T
c.4225A>T
c.2530A>T
c.6077A>T (p.Asn2026Ile)
c.6074A>T (p.Asn2025Ile)
c.6047A>T (p.Asn2016Ile)
c.6038A>T (p.Asn2013Ile)
12g.115970620T>CCA386876129MED13Lc.6041A>G (p.Asn2014Ser)
n.2255A>G
n.4409A>G
n.5805A>G
n.4226A>G
n.4052A>G
c.4225A>G
c.2530A>G
c.6077A>G (p.Asn2026Ser)
c.6074A>G (p.Asn2025Ser)
c.6047A>G (p.Asn2016Ser)
c.6038A>G (p.Asn2013Ser)
 dbSNP gnomAD v4
12g.115970620T>GCA386876130MED13Lc.6041A>C (p.Asn2014Thr)
n.2255A>C
n.4409A>C
n.5805A>C
n.4226A>C
n.4052A>C
c.4225A>C
c.2530A>C
c.6077A>C (p.Asn2026Thr)
c.6074A>C (p.Asn2025Thr)
c.6047A>C (p.Asn2016Thr)
c.6038A>C (p.Asn2013Thr)
12g.115970620T=CA2065410888MED13Lc.6041A= (p.Asn2014=)
n.2255A=
n.4409A=
n.5805A=
n.4226A=
n.4052A=
c.4225A=
c.2530A=
c.6077A= (p.Asn2026=)
c.6074A= (p.Asn2025=)
c.6047A= (p.Asn2016=)
c.6038A= (p.Asn2013=)
12g.115970621T>ACA386876131MED13Lc.6040A>T (p.Asn2014Tyr)
n.2254A>T
n.4408A>T
n.5804A>T
n.4225A>T
n.4051A>T
c.4224A>T
c.2529A>T
c.6076A>T (p.Asn2026Tyr)
c.6073A>T (p.Asn2025Tyr)
c.6046A>T (p.Asn2016Tyr)
c.6037A>T (p.Asn2013Tyr)
12g.115970621T>CCA386876132MED13Lc.6040A>G (p.Asn2014Asp)
n.2254A>G
n.4408A>G
n.5804A>G
n.4225A>G
n.4051A>G
c.4224A>G
c.2529A>G
c.6076A>G (p.Asn2026Asp)
c.6073A>G (p.Asn2025Asp)
c.6046A>G (p.Asn2016Asp)
c.6037A>G (p.Asn2013Asp)
12g.115970621T>GCA386876133MED13Lc.6040A>C (p.Asn2014His)
n.2254A>C
n.4408A>C
n.5804A>C
n.4225A>C
n.4051A>C
c.4224A>C
c.2529A>C
c.6076A>C (p.Asn2026His)
c.6073A>C (p.Asn2025His)
c.6046A>C (p.Asn2016His)
c.6037A>C (p.Asn2013His)
12g.115970622G>ACA481943148MED13Lc.6039C>T (p.Pro2013=)
n.2253C>T
n.4407C>T
n.5803C>T
n.4224C>T
n.4050C>T
c.4223C>T
c.2528C>T
c.6075C>T (p.Pro2025=)
c.6072C>T (p.Pro2024=)
c.6045C>T (p.Pro2015=)
c.6036C>T (p.Pro2012=)
 gnomAD v4
12g.115970622G>CCA481943149MED13Lc.6039C>G (p.Pro2013=)
n.2253C>G
n.4407C>G
n.5803C>G
n.4224C>G
n.4050C>G
c.4223C>G
c.2528C>G
c.6075C>G (p.Pro2025=)
c.6072C>G (p.Pro2024=)
c.6045C>G (p.Pro2015=)
c.6036C>G (p.Pro2012=)
12g.115970622G>TCA481943151MED13Lc.6039C>A (p.Pro2013=)
n.2253C>A
n.4407C>A
n.5803C>A
n.4224C>A
n.4050C>A
c.4223C>A
c.2528C>A
c.6075C>A (p.Pro2025=)
c.6072C>A (p.Pro2024=)
c.6045C>A (p.Pro2015=)
c.6036C>A (p.Pro2012=)
12g.115970625delCA1139532814MED13Lc.6039del (p.Asn2014MetfsTer29)
n.2253del
n.4407del
n.5803del
n.4224del
n.4050del
c.4223del
c.2528del
c.6075del (p.Asn2026MetfsTer29)
c.6072del (p.Asn2025MetfsTer29)
c.6045del (p.Asn2016MetfsTer29)
c.6036del (p.Asn2013MetfsTer29)
 ClinVar
12g.115970623G>ACA386876134MED13Lc.6038C>T (p.Pro2013Leu)
n.2252C>T
n.4406C>T
n.5802C>T
n.4223C>T
n.4049C>T
c.4222C>T
c.2527C>T
c.6074C>T (p.Pro2025Leu)
c.6071C>T (p.Pro2024Leu)
c.6044C>T (p.Pro2015Leu)
c.6035C>T (p.Pro2012Leu)
12g.115970623G>CCA386876135MED13Lc.6038C>G (p.Pro2013Arg)
n.2252C>G
n.4406C>G
n.5802C>G
n.4223C>G
n.4049C>G
c.4222C>G
c.2527C>G
c.6074C>G (p.Pro2025Arg)
c.6071C>G (p.Pro2024Arg)
c.6044C>G (p.Pro2015Arg)
c.6035C>G (p.Pro2012Arg)
12g.115970623G>TCA386876136MED13Lc.6038C>A (p.Pro2013His)
n.2252C>A
n.4406C>A
n.5802C>A
n.4223C>A
n.4049C>A
c.4222C>A
c.2527C>A
c.6074C>A (p.Pro2025His)
c.6071C>A (p.Pro2024His)
c.6044C>A (p.Pro2015His)
c.6035C>A (p.Pro2012His)
12g.115970624G>ACA386876138MED13Lc.6037C>T (p.Pro2013Ser)
n.2251C>T
n.4405C>T
n.5801C>T
n.4222C>T
n.4048C>T
c.4221C>T
c.2526C>T
c.6073C>T (p.Pro2025Ser)
c.6070C>T (p.Pro2024Ser)
c.6043C>T (p.Pro2015Ser)
c.6034C>T (p.Pro2012Ser)
 gnomAD v4
12g.115970624G>CCA386876139MED13Lc.6037C>G (p.Pro2013Ala)
n.2251C>G
n.4405C>G
n.5801C>G
n.4222C>G
n.4048C>G
c.4221C>G
c.2526C>G
c.6073C>G (p.Pro2025Ala)
c.6070C>G (p.Pro2024Ala)
c.6043C>G (p.Pro2015Ala)
c.6034C>G (p.Pro2012Ala)
 ClinVar dbSNP
12g.115970624G=CA2065410889MED13Lc.6037C= (p.Pro2013=)
n.2251C=
n.4405C=
n.5801C=
n.4222C=
n.4048C=
c.4221C=
c.2526C=
c.6073C= (p.Pro2025=)
c.6070C= (p.Pro2024=)
c.6043C= (p.Pro2015=)
c.6034C= (p.Pro2012=)
12g.115970624G>TCA386876137MED13Lc.6037C>A (p.Pro2013Thr)
n.2251C>A
n.4405C>A
n.5801C>A
n.4222C>A
n.4048C>A
c.4221C>A
c.2526C>A
c.6073C>A (p.Pro2025Thr)
c.6070C>A (p.Pro2024Thr)
c.6043C>A (p.Pro2015Thr)
c.6034C>A (p.Pro2012Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.115970625G>ACA481943153MED13Lc.6036C>T (p.Tyr2012=)
n.2250C>T
n.4404C>T
n.5800C>T
n.4221C>T
n.4047C>T
c.4220C>T
c.2525C>T
c.6072C>T (p.Tyr2024=)
c.6069C>T (p.Tyr2023=)
c.6042C>T (p.Tyr2014=)
c.6033C>T (p.Tyr2011=)
 dbSNP gnomAD v4
12g.115970625G>CCA386876140MED13Lc.6036C>G (p.Tyr2012Ter)
n.2250C>G
n.4404C>G
n.5800C>G
n.4221C>G
n.4047C>G
c.4220C>G
c.2525C>G
c.6072C>G (p.Tyr2024Ter)
c.6069C>G (p.Tyr2023Ter)
c.6042C>G (p.Tyr2014Ter)
c.6033C>G (p.Tyr2011Ter)
12g.115970625G=CA2065410890MED13Lc.6036C= (p.Tyr2012=)
n.2250C=
n.4404C=
n.5800C=
n.4221C=
n.4047C=
c.4220C=
c.2525C=
c.6072C= (p.Tyr2024=)
c.6069C= (p.Tyr2023=)
c.6042C= (p.Tyr2014=)
c.6033C= (p.Tyr2011=)
12g.115970625G>TCA386876141MED13Lc.6036C>A (p.Tyr2012Ter)
n.2250C>A
n.4404C>A
n.5800C>A
n.4221C>A
n.4047C>A
c.4220C>A
c.2525C>A
c.6072C>A (p.Tyr2024Ter)
c.6069C>A (p.Tyr2023Ter)
c.6042C>A (p.Tyr2014Ter)
c.6033C>A (p.Tyr2011Ter)
12g.115970626T>ACA386876142MED13Lc.6035A>T (p.Tyr2012Phe)
n.2249A>T
n.4403A>T
n.5799A>T
n.4220A>T
n.4046A>T
c.4219A>T
c.2524A>T
c.6071A>T (p.Tyr2024Phe)
c.6068A>T (p.Tyr2023Phe)
c.6041A>T (p.Tyr2014Phe)
c.6032A>T (p.Tyr2011Phe)
12g.115970626T>CCA386876143MED13Lc.6035A>G (p.Tyr2012Cys)
n.2249A>G
n.4403A>G
n.5799A>G
n.4220A>G
n.4046A>G
c.4219A>G
c.2524A>G
c.6071A>G (p.Tyr2024Cys)
c.6068A>G (p.Tyr2023Cys)
c.6041A>G (p.Tyr2014Cys)
c.6032A>G (p.Tyr2011Cys)
12g.115970626T>GCA386876144MED13Lc.6035A>C (p.Tyr2012Ser)
n.2249A>C
n.4403A>C
n.5799A>C
n.4220A>C
n.4046A>C
c.4219A>C
c.2524A>C
c.6071A>C (p.Tyr2024Ser)
c.6068A>C (p.Tyr2023Ser)
c.6041A>C (p.Tyr2014Ser)
c.6032A>C (p.Tyr2011Ser)
12g.115970626_115970644delCA913203531MED13Lc.6017_6035del (p.Gln2006ProfsTer?)
n.2231_2249del
n.4385_4403del
n.5781_5799del
n.4202_4220del
n.4028_4046del
c.4201_4219del
c.2506_2524del
c.6053_6071del (p.Gln2018ProfsTer?)
c.6050_6068del (p.Gln2017ProfsTer?)
c.6023_6041del (p.Gln2008ProfsTer?)
c.6014_6032del (p.Gln2005ProfsTer?)
 ClinVar
12g.115970627A>CCA386876147MED13Lc.6034T>G (p.Tyr2012Asp)
n.2248T>G
n.4402T>G
n.5798T>G
n.4219T>G
n.4045T>G
c.4218T>G
c.2523T>G
c.6070T>G (p.Tyr2024Asp)
c.6067T>G (p.Tyr2023Asp)
c.6040T>G (p.Tyr2014Asp)
c.6031T>G (p.Tyr2011Asp)
12g.115970627A>GCA386876145MED13Lc.6034T>C (p.Tyr2012His)
n.2248T>C
n.4402T>C
n.5798T>C
n.4219T>C
n.4045T>C
c.4218T>C
c.2523T>C
c.6070T>C (p.Tyr2024His)
c.6067T>C (p.Tyr2023His)
c.6040T>C (p.Tyr2014His)
c.6031T>C (p.Tyr2011His)

Number of alleles fetched