Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018106G>ACA342131372HJVc.1252C>T (p.Leu418Phe)
c.574C>T (p.Leu192Phe)
c.913C>T (p.Leu305Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.146018106G>CCA29822764HJVc.1252C>G (p.Leu418Val)
c.574C>G (p.Leu192Val)
c.913C>G (p.Leu305Val)
 gnomAD v4
1g.146018106G=CA1143440673HJVc.1252C= (p.Leu418=)
c.574C= (p.Leu192=)
c.913C= (p.Leu305=)
1g.146018106G>TCA29822773HJVc.1252C>A (p.Leu418Ile)
c.574C>A (p.Leu192Ile)
c.913C>A (p.Leu305Ile)
 gnomAD v4
1g.146018107C>ACA420249989HJVc.1251G>T (p.Gly417=)
c.573G>T (p.Gly191=)
c.912G>T (p.Gly304=)
1g.146018107C>GCA420249990HJVc.1251G>C (p.Gly417=)
c.573G>C (p.Gly191=)
c.912G>C (p.Gly304=)
1g.146018107C>TCA420249991HJVc.1251G>A (p.Gly417=)
c.573G>A (p.Gly191=)
c.912G>A (p.Gly304=)
1g.146018108C>ACA342131375HJVc.1250G>T (p.Gly417Val)
c.572G>T (p.Gly191Val)
c.911G>T (p.Gly304Val)
1g.146018108C>GCA342131378HJVc.1250G>C (p.Gly417Ala)
c.572G>C (p.Gly191Ala)
c.911G>C (p.Gly304Ala)
1g.146018108C>TCA342131376HJVc.1250G>A (p.Gly417Glu)
c.572G>A (p.Gly191Glu)
c.911G>A (p.Gly304Glu)
 gnomAD v4
1g.146018109C>ACA29822789HJVc.1249G>T (p.Gly417Trp)
c.571G>T (p.Gly191Trp)
c.910G>T (p.Gly304Trp)
1g.146018109C=CA1198820845HJVc.1249G= (p.Gly417=)
c.571G= (p.Gly191=)
c.910G= (p.Gly304=)
1g.146018109C>GCA1053991HJVc.1249G>C (p.Gly417Arg)
c.571G>C (p.Gly191Arg)
c.910G>C (p.Gly304Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018109C>TCA1053990HJVc.1249G>A (p.Gly417Arg)
c.571G>A (p.Gly191Arg)
c.910G>A (p.Gly304Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018110A>CCA420249995HJVc.1248T>G (p.Ser416=)
c.570T>G (p.Ser190=)
c.909T>G (p.Ser303=)
1g.146018110A>GCA420249996HJVc.1248T>C (p.Ser416=)
c.570T>C (p.Ser190=)
c.909T>C (p.Ser303=)
 ClinVar
1g.146018110A>TCA420249998HJVc.1248T>A (p.Ser416=)
c.570T>A (p.Ser190=)
c.909T>A (p.Ser303=)
1g.146018111G>ACA342131384HJVc.1247C>T (p.Ser416Phe)
c.569C>T (p.Ser190Phe)
c.908C>T (p.Ser303Phe)
1g.146018111G>CCA342131386HJVc.1247C>G (p.Ser416Cys)
c.569C>G (p.Ser190Cys)
c.908C>G (p.Ser303Cys)
1g.146018111G>TCA342131388HJVc.1247C>A (p.Ser416Tyr)
c.569C>A (p.Ser190Tyr)
c.908C>A (p.Ser303Tyr)
 COSMIC
1g.146018112A=CA1148129812HJVc.1246T= (p.Ser416=)
c.568T= (p.Ser190=)
c.907T= (p.Ser303=)
1g.146018112A>CCA342131389HJVc.1246T>G (p.Ser416Ala)
c.568T>G (p.Ser190Ala)
c.907T>G (p.Ser303Ala)
1g.146018112A>GCA1053989HJVc.1246T>C (p.Ser416Pro)
c.568T>C (p.Ser190Pro)
c.907T>C (p.Ser303Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018112A>TCA342131400HJVc.1246T>A (p.Ser416Thr)
c.568T>A (p.Ser190Thr)
c.907T>A (p.Ser303Thr)
1g.146018113A>CCA420250002HJVc.1245T>G (p.Leu415=)
c.567T>G (p.Leu189=)
c.906T>G (p.Leu302=)
 gnomAD v4
1g.146018113A>GCA420250001HJVc.1245T>C (p.Leu415=)
c.567T>C (p.Leu189=)
c.906T>C (p.Leu302=)
1g.146018113A>TCA420250003HJVc.1245T>A (p.Leu415=)
c.567T>A (p.Leu189=)
c.906T>A (p.Leu302=)
1g.146018114A>CCA342131403HJVc.1244T>G (p.Leu415Arg)
c.566T>G (p.Leu189Arg)
c.905T>G (p.Leu302Arg)
1g.146018114A>GCA342131405HJVc.1244T>C (p.Leu415Pro)
c.566T>C (p.Leu189Pro)
c.905T>C (p.Leu302Pro)
1g.146018114A>TCA342131408HJVc.1244T>A (p.Leu415His)
c.566T>A (p.Leu189His)
c.905T>A (p.Leu302His)
1g.146018115G>ACA342131410HJVc.1243C>T (p.Leu415Phe)
c.565C>T (p.Leu189Phe)
c.904C>T (p.Leu302Phe)
 gnomAD v4 COSMIC
1g.146018115G>CCA342131412HJVc.1243C>G (p.Leu415Val)
c.565C>G (p.Leu189Val)
c.904C>G (p.Leu302Val)
1g.146018115G>TCA342131411HJVc.1243C>A (p.Leu415Ile)
c.565C>A (p.Leu189Ile)
c.904C>A (p.Leu302Ile)
1g.146018116G>ACA420250004HJVc.1242C>T (p.Leu414=)
c.564C>T (p.Leu188=)
c.903C>T (p.Leu301=)
1g.146018116G>CCA420250006HJVc.1242C>G (p.Leu414=)
c.564C>G (p.Leu188=)
c.903C>G (p.Leu301=)
1g.146018116G>TCA420250005HJVc.1242C>A (p.Leu414=)
c.564C>A (p.Leu188=)
c.903C>A (p.Leu301=)
1g.146018117A>CCA342131418HJVc.1241T>G (p.Leu414Arg)
c.563T>G (p.Leu188Arg)
c.902T>G (p.Leu301Arg)
 gnomAD v4
1g.146018117A>GCA342131420HJVc.1241T>C (p.Leu414Pro)
c.563T>C (p.Leu188Pro)
c.902T>C (p.Leu301Pro)
 gnomAD v4
1g.146018117A>TCA342131448HJVc.1241T>A (p.Leu414His)
c.563T>A (p.Leu188His)
c.902T>A (p.Leu301His)
1g.146018118G>ACA342131452HJVc.1240C>T (p.Leu414Phe)
c.562C>T (p.Leu188Phe)
c.901C>T (p.Leu301Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.146018118G>CCA342131454HJVc.1240C>G (p.Leu414Val)
c.562C>G (p.Leu188Val)
c.901C>G (p.Leu301Val)
1g.146018118G=CA1198820846HJVc.1240C= (p.Leu414=)
c.562C= (p.Leu188=)
c.901C= (p.Leu301=)
1g.146018118G>TCA342131457HJVc.1240C>A (p.Leu414Ile)
c.562C>A (p.Leu188Ile)
c.901C>A (p.Leu301Ile)
1g.146018119T>ACA420250012HJVc.1239A>T (p.Pro413=)
c.561A>T (p.Pro187=)
c.900A>T (p.Pro300=)
1g.146018119T>CCA420250015HJVc.1239A>G (p.Pro413=)
c.561A>G (p.Pro187=)
c.900A>G (p.Pro300=)
1g.146018119T>GCA420250014HJVc.1239A>C (p.Pro413=)
c.561A>C (p.Pro187=)
c.900A>C (p.Pro300=)
1g.146018120G>ACA342131461HJVc.1238C>T (p.Pro413Leu)
c.560C>T (p.Pro187Leu)
c.899C>T (p.Pro300Leu)
 ClinVar dbSNP
1g.146018120G>CCA342131462HJVc.1238C>G (p.Pro413Arg)
c.560C>G (p.Pro187Arg)
c.899C>G (p.Pro300Arg)
1g.146018120G>TCA342131465HJVc.1238C>A (p.Pro413Gln)
c.560C>A (p.Pro187Gln)
c.899C>A (p.Pro300Gln)
1g.146018121G>ACA1053988HJVc.1237C>T (p.Pro413Ser)
c.559C>T (p.Pro187Ser)
c.898C>T (p.Pro300Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched