Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
1g.146018121G>CCA29822800HJVc.1237C>G (p.Pro413Ala)
c.559C>G (p.Pro187Ala)
c.898C>G (p.Pro300Ala)
1g.146018121G=CA1148212947HJVc.1237C= (p.Pro413=)
c.559C= (p.Pro187=)
c.898C= (p.Pro300=)
1g.146018121G>TCA29822801HJVc.1237C>A (p.Pro413Thr)
c.559C>A (p.Pro187Thr)
c.898C>A (p.Pro300Thr)
1g.146018122A>CCA420250016HJVc.1236T>G (p.Ala412=)
c.558T>G (p.Ala186=)
c.897T>G (p.Ala299=)
1g.146018122A>GCA420250018HJVc.1236T>C (p.Ala412=)
c.558T>C (p.Ala186=)
c.897T>C (p.Ala299=)
1g.146018122A>TCA420250017HJVc.1236T>A (p.Ala412=)
c.558T>A (p.Ala186=)
c.897T>A (p.Ala299=)
1g.146018123G>ACA342131485HJVc.1235C>T (p.Ala412Val)
c.557C>T (p.Ala186Val)
c.896C>T (p.Ala299Val)
 dbSNP gnomAD v2 gnomAD v4
1g.146018123G>CCA342131484HJVc.1235C>G (p.Ala412Gly)
c.557C>G (p.Ala186Gly)
c.896C>G (p.Ala299Gly)
1g.146018123G=CA1198820847HJVc.1235C= (p.Ala412=)
c.557C= (p.Ala186=)
c.896C= (p.Ala299=)
1g.146018123G>TCA342131483HJVc.1235C>A (p.Ala412Asp)
c.557C>A (p.Ala186Asp)
c.896C>A (p.Ala299Asp)
1g.146018124C>ACA29822803HJVc.1234G>T (p.Ala412Ser)
c.556G>T (p.Ala186Ser)
c.895G>T (p.Ala299Ser)
1g.146018124C=CA1198820848HJVc.1234G= (p.Ala412=)
c.556G= (p.Ala186=)
c.895G= (p.Ala299=)
1g.146018124C>GCA1053987HJVc.1234G>C (p.Ala412Pro)
c.556G>C (p.Ala186Pro)
c.895G>C (p.Ala299Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018124C>TCA1053986HJVc.1234G>A (p.Ala412Thr)
c.556G>A (p.Ala186Thr)
c.895G>A (p.Ala299Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018125T>ACA342131487HJVc.1233A>T (p.Leu411Phe)
c.555A>T (p.Leu185Phe)
c.894A>T (p.Leu298Phe)
1g.146018125T>CCA420250023HJVc.1233A>G (p.Leu411=)
c.555A>G (p.Leu185=)
c.894A>G (p.Leu298=)
1g.146018125T>GCA342131493HJVc.1233A>C (p.Leu411Phe)
c.555A>C (p.Leu185Phe)
c.894A>C (p.Leu298Phe)
1g.146018126A>CCA342131510HJVc.1232T>G (p.Leu411Ter)
c.554T>G (p.Leu185Ter)
c.893T>G (p.Leu298Ter)
1g.146018126A>GCA342131520HJVc.1232T>C (p.Leu411Ser)
c.554T>C (p.Leu185Ser)
c.893T>C (p.Leu298Ser)
1g.146018126A>TCA342131523HJVc.1232T>A (p.Leu411Ter)
c.554T>A (p.Leu185Ter)
c.893T>A (p.Leu298Ter)
1g.146018127A>CCA342131527HJVc.1231T>G (p.Leu411Val)
c.553T>G (p.Leu185Val)
c.892T>G (p.Leu298Val)
1g.146018127A>GCA420250025HJVc.1231T>C (p.Leu411=)
c.553T>C (p.Leu185=)
c.892T>C (p.Leu298=)
1g.146018127A>TCA342131539HJVc.1231T>A (p.Leu411Ile)
c.553T>A (p.Leu185Ile)
c.892T>A (p.Leu298Ile)
1g.146018128G>ACA420250028HJVc.1230C>T (p.Leu410=)
c.552C>T (p.Leu184=)
c.891C>T (p.Leu297=)
1g.146018128G>CCA420250030HJVc.1230C>G (p.Leu410=)
c.552C>G (p.Leu184=)
c.891C>G (p.Leu297=)
1g.146018128G>TCA420250029HJVc.1230C>A (p.Leu410=)
c.552C>A (p.Leu184=)
c.891C>A (p.Leu297=)
1g.146018129A=CA1198820849HJVc.1229T= (p.Leu410=)
c.551T= (p.Leu184=)
c.890T= (p.Leu297=)
1g.146018129A>CCA342131544HJVc.1229T>G (p.Leu410Arg)
c.551T>G (p.Leu184Arg)
c.890T>G (p.Leu297Arg)
1g.146018129A>GCA342131558HJVc.1229T>C (p.Leu410Pro)
c.551T>C (p.Leu184Pro)
c.890T>C (p.Leu297Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.146018129A>TCA342131578HJVc.1229T>A (p.Leu410His)
c.551T>A (p.Leu184His)
c.890T>A (p.Leu297His)
 gnomAD v4
1g.146018130G>ACA342131592HJVc.1228C>T (p.Leu410Phe)
c.550C>T (p.Leu184Phe)
c.889C>T (p.Leu297Phe)
1g.146018130G>CCA342131588HJVc.1228C>G (p.Leu410Val)
c.550C>G (p.Leu184Val)
c.889C>G (p.Leu297Val)
1g.146018130G>TCA342131587HJVc.1228C>A (p.Leu410Ile)
c.550C>A (p.Leu184Ile)
c.889C>A (p.Leu297Ile)

Number of alleles fetched