Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.8325963C>ACA338162634SLC45A1c.636C>A (p.Asn212Lys)
c.738C>A (p.Asn246Lys)
c.645C>A (p.Asn215Lys)
c.30C>A (p.Asn10Lys)
c.543C>A (p.Asn181Lys)
1g.8325963C>GCA338162636SLC45A1c.636C>G (p.Asn212Lys)
c.738C>G (p.Asn246Lys)
c.645C>G (p.Asn215Lys)
c.30C>G (p.Asn10Lys)
c.543C>G (p.Asn181Lys)
 gnomAD v4
1g.8325963C>TCA415835872SLC45A1c.636C>T (p.Asn212=)
c.738C>T (p.Asn246=)
c.645C>T (p.Asn215=)
c.30C>T (p.Asn10=)
c.543C>T (p.Asn181=)
1g.8325966delCA2643069219SLC45A1c.639del (p.Ser214AlafsTer5)
c.741del (p.Ser248AlafsTer5)
c.648del (p.Ser217AlafsTer5)
c.33del (p.Ser12AlafsTer5)
c.546del (p.Ser183AlafsTer5)
 gnomAD v4
1g.8325964C>ACA338162638SLC45A1c.637C>A (p.Pro213Thr)
c.739C>A (p.Pro247Thr)
c.646C>A (p.Pro216Thr)
c.31C>A (p.Pro11Thr)
c.544C>A (p.Pro182Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.8325964C=CA1152270648SLC45A1c.637C= (p.Pro213=)
c.739C= (p.Pro247=)
c.646C= (p.Pro216=)
c.31C= (p.Pro11=)
c.544C= (p.Pro182=)
1g.8325964C>GCA338162642SLC45A1c.637C>G (p.Pro213Ala)
c.739C>G (p.Pro247Ala)
c.646C>G (p.Pro216Ala)
c.31C>G (p.Pro11Ala)
c.544C>G (p.Pro182Ala)
1g.8325964C>TCA338162640SLC45A1c.637C>T (p.Pro213Ser)
c.739C>T (p.Pro247Ser)
c.646C>T (p.Pro216Ser)
c.31C>T (p.Pro11Ser)
c.544C>T (p.Pro182Ser)
1g.8325965C>ACA338162644SLC45A1c.638C>A (p.Pro213His)
c.740C>A (p.Pro247His)
c.647C>A (p.Pro216His)
c.32C>A (p.Pro11His)
c.545C>A (p.Pro182His)
1g.8325965C>GCA338162646SLC45A1c.638C>G (p.Pro213Arg)
c.740C>G (p.Pro247Arg)
c.647C>G (p.Pro216Arg)
c.32C>G (p.Pro11Arg)
c.545C>G (p.Pro182Arg)
1g.8325965C>TCA338162648SLC45A1c.638C>T (p.Pro213Leu)
c.740C>T (p.Pro247Leu)
c.647C>T (p.Pro216Leu)
c.32C>T (p.Pro11Leu)
c.545C>T (p.Pro182Leu)
1g.8325966C>ACA415835880SLC45A1c.639C>A (p.Pro213=)
c.741C>A (p.Pro247=)
c.648C>A (p.Pro216=)
c.33C>A (p.Pro11=)
c.546C>A (p.Pro182=)
1g.8325966C>GCA415835881SLC45A1c.639C>G (p.Pro213=)
c.741C>G (p.Pro247=)
c.648C>G (p.Pro216=)
c.33C>G (p.Pro11=)
c.546C>G (p.Pro182=)
1g.8325966C>TCA415835882SLC45A1c.639C>T (p.Pro213=)
c.741C>T (p.Pro247=)
c.648C>T (p.Pro216=)
c.33C>T (p.Pro11=)
c.546C>T (p.Pro182=)
1g.8325967A>CCA338162649SLC45A1c.640A>C (p.Ser214Arg)
c.742A>C (p.Ser248Arg)
c.649A>C (p.Ser217Arg)
c.34A>C (p.Ser12Arg)
c.547A>C (p.Ser183Arg)
1g.8325967A>GCA338162650SLC45A1c.640A>G (p.Ser214Gly)
c.742A>G (p.Ser248Gly)
c.649A>G (p.Ser217Gly)
c.34A>G (p.Ser12Gly)
c.547A>G (p.Ser183Gly)
1g.8325967A>TCA338162653SLC45A1c.640A>T (p.Ser214Cys)
c.742A>T (p.Ser248Cys)
c.649A>T (p.Ser217Cys)
c.34A>T (p.Ser12Cys)
c.547A>T (p.Ser183Cys)
1g.8325968G>ACA338162657SLC45A1c.641G>A (p.Ser214Asn)
c.743G>A (p.Ser248Asn)
c.650G>A (p.Ser217Asn)
c.35G>A (p.Ser12Asn)
c.548G>A (p.Ser183Asn)
1g.8325968G>CCA338162655SLC45A1c.641G>C (p.Ser214Thr)
c.743G>C (p.Ser248Thr)
c.650G>C (p.Ser217Thr)
c.35G>C (p.Ser12Thr)
c.548G>C (p.Ser183Thr)
1g.8325968G>TCA338162656SLC45A1c.641G>T (p.Ser214Ile)
c.743G>T (p.Ser248Ile)
c.650G>T (p.Ser217Ile)
c.35G>T (p.Ser12Ile)
c.548G>T (p.Ser183Ile)
1g.8325969C>ACA338162659SLC45A1c.642C>A (p.Ser214Arg)
c.744C>A (p.Ser248Arg)
c.651C>A (p.Ser217Arg)
c.36C>A (p.Ser12Arg)
c.549C>A (p.Ser183Arg)
1g.8325969C>GCA338162661SLC45A1c.642C>G (p.Ser214Arg)
c.744C>G (p.Ser248Arg)
c.651C>G (p.Ser217Arg)
c.36C>G (p.Ser12Arg)
c.549C>G (p.Ser183Arg)
1g.8325969C>TCA415835885SLC45A1c.642C>T (p.Ser214=)
c.744C>T (p.Ser248=)
c.651C>T (p.Ser217=)
c.36C>T (p.Ser12=)
c.549C>T (p.Ser183=)
 gnomAD v4
1g.8325970C>ACA570150SLC45A1c.643C>A (p.His215Asn)
c.745C>A (p.His249Asn)
c.652C>A (p.His218Asn)
c.37C>A (p.His13Asn)
c.550C>A (p.His184Asn)
 dbSNP ExAC gnomAD v2
1g.8325970C=CA1152270650SLC45A1c.643C= (p.His215=)
c.745C= (p.His249=)
c.652C= (p.His218=)
c.37C= (p.His13=)
c.550C= (p.His184=)
1g.8325970C>GCA338162664SLC45A1c.643C>G (p.His215Asp)
c.745C>G (p.His249Asp)
c.652C>G (p.His218Asp)
c.37C>G (p.His13Asp)
c.550C>G (p.His184Asp)
1g.8325970C>TCA338162666SLC45A1c.643C>T (p.His215Tyr)
c.745C>T (p.His249Tyr)
c.652C>T (p.His218Tyr)
c.37C>T (p.His13Tyr)
c.550C>T (p.His184Tyr)
 gnomAD v4
1g.8325971A>CCA338162672SLC45A1c.644A>C (p.His215Pro)
c.746A>C (p.His249Pro)
c.653A>C (p.His218Pro)
c.38A>C (p.His13Pro)
c.551A>C (p.His184Pro)
1g.8325971A>GCA338162669SLC45A1c.644A>G (p.His215Arg)
c.746A>G (p.His249Arg)
c.653A>G (p.His218Arg)
c.38A>G (p.His13Arg)
c.551A>G (p.His184Arg)
1g.8325971A>TCA338162671SLC45A1c.644A>T (p.His215Leu)
c.746A>T (p.His249Leu)
c.653A>T (p.His218Leu)
c.38A>T (p.His13Leu)
c.551A>T (p.His184Leu)
1g.8325972C>ACA338162673SLC45A1c.645C>A (p.His215Gln)
c.747C>A (p.His249Gln)
c.654C>A (p.His218Gln)
c.39C>A (p.His13Gln)
c.552C>A (p.His184Gln)
1g.8325972C=CA1152270653SLC45A1c.645C= (p.His215=)
c.747C= (p.His249=)
c.654C= (p.His218=)
c.39C= (p.His13=)
c.552C= (p.His184=)
1g.8325972C>GCA338162675SLC45A1c.645C>G (p.His215Gln)
c.747C>G (p.His249Gln)
c.654C>G (p.His218Gln)
c.39C>G (p.His13Gln)
c.552C>G (p.His184Gln)
1g.8325972C>TCA570151SLC45A1c.645C>T (p.His215=)
c.747C>T (p.His249=)
c.654C>T (p.His218=)
c.39C>T (p.His13=)
c.552C>T (p.His184=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.8325973G>ACA570152SLC45A1c.646G>A (p.Ala216Thr)
c.748G>A (p.Ala250Thr)
c.655G>A (p.Ala219Thr)
c.40G>A (p.Ala14Thr)
c.553G>A (p.Ala185Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325973G>CCA338162678SLC45A1c.646G>C (p.Ala216Pro)
c.748G>C (p.Ala250Pro)
c.655G>C (p.Ala219Pro)
c.40G>C (p.Ala14Pro)
c.553G>C (p.Ala185Pro)
1g.8325973G=CA1142237751SLC45A1c.646G= (p.Ala216=)
c.748G= (p.Ala250=)
c.655G= (p.Ala219=)
c.40G= (p.Ala14=)
c.553G= (p.Ala185=)
1g.8325973G>TCA338162681SLC45A1c.646G>T (p.Ala216Ser)
c.748G>T (p.Ala250Ser)
c.655G>T (p.Ala219Ser)
c.40G>T (p.Ala14Ser)
c.553G>T (p.Ala185Ser)
1g.8325974C>ACA338162683SLC45A1c.647C>A (p.Ala216Asp)
c.749C>A (p.Ala250Asp)
c.656C>A (p.Ala219Asp)
c.41C>A (p.Ala14Asp)
c.554C>A (p.Ala185Asp)
1g.8325974C=CA1152270658SLC45A1c.647C= (p.Ala216=)
c.749C= (p.Ala250=)
c.656C= (p.Ala219=)
c.41C= (p.Ala14=)
c.554C= (p.Ala185=)
1g.8325974C>GCA338162685SLC45A1c.647C>G (p.Ala216Gly)
c.749C>G (p.Ala250Gly)
c.656C>G (p.Ala219Gly)
c.41C>G (p.Ala14Gly)
c.554C>G (p.Ala185Gly)
1g.8325974C>TCA338162687SLC45A1c.647C>T (p.Ala216Val)
c.749C>T (p.Ala250Val)
c.656C>T (p.Ala219Val)
c.41C>T (p.Ala14Val)
c.554C>T (p.Ala185Val)
 dbSNP gnomAD v2 gnomAD v4
1g.8325975C>ACA415835897SLC45A1c.648C>A (p.Ala216=)
c.750C>A (p.Ala250=)
c.657C>A (p.Ala219=)
c.42C>A (p.Ala14=)
c.555C>A (p.Ala185=)
1g.8325975C>GCA415835898SLC45A1c.648C>G (p.Ala216=)
c.750C>G (p.Ala250=)
c.657C>G (p.Ala219=)
c.42C>G (p.Ala14=)
c.555C>G (p.Ala185=)
1g.8325975C>TCA415835900SLC45A1c.648C>T (p.Ala216=)
c.750C>T (p.Ala250=)
c.657C>T (p.Ala219=)
c.42C>T (p.Ala14=)
c.555C>T (p.Ala185=)
1g.8325976T>ACA338162688SLC45A1c.649T>A (p.Tyr217Asn)
c.751T>A (p.Tyr251Asn)
c.658T>A (p.Tyr220Asn)
c.43T>A (p.Tyr15Asn)
c.556T>A (p.Tyr186Asn)
1g.8325976T>CCA338162690SLC45A1c.649T>C (p.Tyr217His)
c.751T>C (p.Tyr251His)
c.658T>C (p.Tyr220His)
c.43T>C (p.Tyr15His)
c.556T>C (p.Tyr186His)
1g.8325976T>GCA338162692SLC45A1c.649T>G (p.Tyr217Asp)
c.751T>G (p.Tyr251Asp)
c.658T>G (p.Tyr220Asp)
c.43T>G (p.Tyr15Asp)
c.556T>G (p.Tyr186Asp)
1g.8325977A=CA1152270660SLC45A1c.650A= (p.Tyr217=)
c.752A= (p.Tyr251=)
c.659A= (p.Tyr220=)
c.44A= (p.Tyr15=)
c.557A= (p.Tyr186=)
1g.8325977A>CCA338162693SLC45A1c.650A>C (p.Tyr217Ser)
c.752A>C (p.Tyr251Ser)
c.659A>C (p.Tyr220Ser)
c.44A>C (p.Tyr15Ser)
c.557A>C (p.Tyr186Ser)
1g.8325977A>GCA338162697SLC45A1c.650A>G (p.Tyr217Cys)
c.752A>G (p.Tyr251Cys)
c.659A>G (p.Tyr220Cys)
c.44A>G (p.Tyr15Cys)
c.557A>G (p.Tyr186Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.8325977A>TCA338162695SLC45A1c.650A>T (p.Tyr217Phe)
c.752A>T (p.Tyr251Phe)
c.659A>T (p.Tyr220Phe)
c.44A>T (p.Tyr15Phe)
c.557A>T (p.Tyr186Phe)
1g.8325978_8325979delCA2643069220SLC45A1c.651_652del (p.Met218AspfsTer?)
c.753_754del (p.Met252AspfsTer?)
c.660_661del (p.Met221AspfsTer?)
c.45_46del (p.Met16AspfsTer?)
c.558_559del (p.Met187AspfsTer?)
 gnomAD v4
1g.8325978C>ACA338162699SLC45A1c.651C>A (p.Tyr217Ter)
c.753C>A (p.Tyr251Ter)
c.660C>A (p.Tyr220Ter)
c.45C>A (p.Tyr15Ter)
c.558C>A (p.Tyr186Ter)
1g.8325978C>GCA338162701SLC45A1c.651C>G (p.Tyr217Ter)
c.753C>G (p.Tyr251Ter)
c.660C>G (p.Tyr220Ter)
c.45C>G (p.Tyr15Ter)
c.558C>G (p.Tyr186Ter)
 dbSNP
1g.8325978C>TCA415835909SLC45A1c.651C>T (p.Tyr217=)
c.753C>T (p.Tyr251=)
c.660C>T (p.Tyr220=)
c.45C>T (p.Tyr15=)
c.558C>T (p.Tyr186=)
 gnomAD v4
1g.8325979A=CA1152270663SLC45A1c.652A= (p.Met218=)
c.754A= (p.Met252=)
c.661A= (p.Met221=)
c.46A= (p.Met16=)
c.559A= (p.Met187=)
1g.8325979A>CCA338162704SLC45A1c.652A>C (p.Met218Leu)
c.754A>C (p.Met252Leu)
c.661A>C (p.Met221Leu)
c.46A>C (p.Met16Leu)
c.559A>C (p.Met187Leu)
1g.8325979A>GCA338162705SLC45A1c.652A>G (p.Met218Val)
c.754A>G (p.Met252Val)
c.661A>G (p.Met221Val)
c.46A>G (p.Met16Val)
c.559A>G (p.Met187Val)
 dbSNP gnomAD v2 gnomAD v4
1g.8325979A>TCA338162706SLC45A1c.652A>T (p.Met218Leu)
c.754A>T (p.Met252Leu)
c.661A>T (p.Met221Leu)
c.46A>T (p.Met16Leu)
c.559A>T (p.Met187Leu)
1g.8325980T>ACA338162708SLC45A1c.653T>A (p.Met218Lys)
c.755T>A (p.Met252Lys)
c.662T>A (p.Met221Lys)
c.47T>A (p.Met16Lys)
c.560T>A (p.Met187Lys)
1g.8325980T>CCA338162710SLC45A1c.653T>C (p.Met218Thr)
c.755T>C (p.Met252Thr)
c.662T>C (p.Met221Thr)
c.47T>C (p.Met16Thr)
c.560T>C (p.Met187Thr)
 gnomAD v4
1g.8325980T>GCA570153SLC45A1c.653T>G (p.Met218Arg)
c.755T>G (p.Met252Arg)
c.662T>G (p.Met221Arg)
c.47T>G (p.Met16Arg)
c.560T>G (p.Met187Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8325980T=CA1152270667SLC45A1c.653T= (p.Met218=)
c.755T= (p.Met252=)
c.662T= (p.Met221=)
c.47T= (p.Met16=)
c.560T= (p.Met187=)
1g.8325981G>ACA338162712SLC45A1c.654G>A (p.Met218Ile)
c.756G>A (p.Met252Ile)
c.663G>A (p.Met221Ile)
c.48G>A (p.Met16Ile)
c.561G>A (p.Met187Ile)
1g.8325981G>CCA338162715SLC45A1c.654G>C (p.Met218Ile)
c.756G>C (p.Met252Ile)
c.663G>C (p.Met221Ile)
c.48G>C (p.Met16Ile)
c.561G>C (p.Met187Ile)
1g.8325981G=CA1152270670SLC45A1c.654G= (p.Met218=)
c.756G= (p.Met252=)
c.663G= (p.Met221=)
c.48G= (p.Met16=)
c.561G= (p.Met187=)
1g.8325981G>TCA570154SLC45A1c.654G>T (p.Met218Ile)
c.756G>T (p.Met252Ile)
c.663G>T (p.Met221Ile)
c.48G>T (p.Met16Ile)
c.561G>T (p.Met187Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8325982A>CCA338162721SLC45A1c.655A>C (p.Met219Leu)
c.757A>C (p.Met253Leu)
c.664A>C (p.Met222Leu)
c.49A>C (p.Met17Leu)
c.562A>C (p.Met188Leu)
1g.8325982A>GCA338162719SLC45A1c.655A>G (p.Met219Val)
c.757A>G (p.Met253Val)
c.664A>G (p.Met222Val)
c.49A>G (p.Met17Val)
c.562A>G (p.Met188Val)
1g.8325982A>TCA338162718SLC45A1c.655A>T (p.Met219Leu)
c.757A>T (p.Met253Leu)
c.664A>T (p.Met222Leu)
c.49A>T (p.Met17Leu)
c.562A>T (p.Met188Leu)
1g.8325983T>ACA338162722SLC45A1c.656T>A (p.Met219Lys)
c.758T>A (p.Met253Lys)
c.665T>A (p.Met222Lys)
c.50T>A (p.Met17Lys)
c.563T>A (p.Met188Lys)
1g.8325983T>CCA338162723SLC45A1c.656T>C (p.Met219Thr)
c.758T>C (p.Met253Thr)
c.665T>C (p.Met222Thr)
c.50T>C (p.Met17Thr)
c.563T>C (p.Met188Thr)
 gnomAD v4
1g.8325983T>GCA338162724SLC45A1c.656T>G (p.Met219Arg)
c.758T>G (p.Met253Arg)
c.665T>G (p.Met222Arg)
c.50T>G (p.Met17Arg)
c.563T>G (p.Met188Arg)
1g.8325984G>ACA338162725SLC45A1c.657G>A (p.Met219Ile)
c.759G>A (p.Met253Ile)
c.666G>A (p.Met222Ile)
c.51G>A (p.Met17Ile)
c.564G>A (p.Met188Ile)
1g.8325984G>CCA338162726SLC45A1c.657G>C (p.Met219Ile)
c.759G>C (p.Met253Ile)
c.666G>C (p.Met222Ile)
c.51G>C (p.Met17Ile)
c.564G>C (p.Met188Ile)
1g.8325984G>TCA338162727SLC45A1c.657G>T (p.Met219Ile)
c.759G>T (p.Met253Ile)
c.666G>T (p.Met222Ile)
c.51G>T (p.Met17Ile)
c.564G>T (p.Met188Ile)
 gnomAD v4
1g.8325985G>ACA338162728SLC45A1c.658G>A (p.Asp220Asn)
c.760G>A (p.Asp254Asn)
c.667G>A (p.Asp223Asn)
c.52G>A (p.Asp18Asn)
c.565G>A (p.Asp189Asn)
 COSMIC COSMIC
1g.8325985G>CCA338162729SLC45A1c.658G>C (p.Asp220His)
c.760G>C (p.Asp254His)
c.667G>C (p.Asp223His)
c.52G>C (p.Asp18His)
c.565G>C (p.Asp189His)
1g.8325985G>TCA338162731SLC45A1c.658G>T (p.Asp220Tyr)
c.760G>T (p.Asp254Tyr)
c.667G>T (p.Asp223Tyr)
c.52G>T (p.Asp18Tyr)
c.565G>T (p.Asp189Tyr)
1g.8325986A>CCA338162733SLC45A1c.659A>C (p.Asp220Ala)
c.761A>C (p.Asp254Ala)
c.668A>C (p.Asp223Ala)
c.53A>C (p.Asp18Ala)
c.566A>C (p.Asp189Ala)
1g.8325986A>GCA338162734SLC45A1c.659A>G (p.Asp220Gly)
c.761A>G (p.Asp254Gly)
c.668A>G (p.Asp223Gly)
c.53A>G (p.Asp18Gly)
c.566A>G (p.Asp189Gly)
1g.8325986A>TCA338162735SLC45A1c.659A>T (p.Asp220Val)
c.761A>T (p.Asp254Val)
c.668A>T (p.Asp223Val)
c.53A>T (p.Asp18Val)
c.566A>T (p.Asp189Val)
1g.8325987C>ACA338162741SLC45A1c.660C>A (p.Asp220Glu)
c.762C>A (p.Asp254Glu)
c.669C>A (p.Asp223Glu)
c.54C>A (p.Asp18Glu)
c.567C>A (p.Asp189Glu)
1g.8325987C=CA1141974618SLC45A1c.660C= (p.Asp220=)
c.762C= (p.Asp254=)
c.669C= (p.Asp223=)
c.54C= (p.Asp18=)
c.567C= (p.Asp189=)
1g.8325987C>GCA338162739SLC45A1c.660C>G (p.Asp220Glu)
c.762C>G (p.Asp254Glu)
c.669C>G (p.Asp223Glu)
c.54C>G (p.Asp18Glu)
c.567C>G (p.Asp189Glu)
1g.8325987C>TCA570155SLC45A1c.660C>T (p.Asp220=)
c.762C>T (p.Asp254=)
c.669C>T (p.Asp223=)
c.54C>T (p.Asp18=)
c.567C>T (p.Asp189=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8325988G>ACA570156SLC45A1c.661G>A (p.Val221Met)
c.763G>A (p.Val255Met)
c.670G>A (p.Val224Met)
c.55G>A (p.Val19Met)
c.568G>A (p.Val190Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8325988G>CCA338162744SLC45A1c.661G>C (p.Val221Leu)
c.763G>C (p.Val255Leu)
c.670G>C (p.Val224Leu)
c.55G>C (p.Val19Leu)
c.568G>C (p.Val190Leu)
 gnomAD v4
1g.8325988G=CA1152270681SLC45A1c.661G= (p.Val221=)
c.763G= (p.Val255=)
c.670G= (p.Val224=)
c.55G= (p.Val19=)
c.568G= (p.Val190=)
1g.8325988G>TCA570157SLC45A1c.661G>T (p.Val221Leu)
c.763G>T (p.Val255Leu)
c.670G>T (p.Val224Leu)
c.55G>T (p.Val19Leu)
c.568G>T (p.Val190Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8325989T>ACA338162745SLC45A1c.662T>A (p.Val221Glu)
c.764T>A (p.Val255Glu)
c.671T>A (p.Val224Glu)
c.56T>A (p.Val19Glu)
c.569T>A (p.Val190Glu)
1g.8325989T>CCA338162747SLC45A1c.662T>C (p.Val221Ala)
c.764T>C (p.Val255Ala)
c.671T>C (p.Val224Ala)
c.56T>C (p.Val19Ala)
c.569T>C (p.Val190Ala)
 dbSNP gnomAD v2 gnomAD v4
1g.8325989T>GCA338162746SLC45A1c.662T>G (p.Val221Gly)
c.764T>G (p.Val255Gly)
c.671T>G (p.Val224Gly)
c.56T>G (p.Val19Gly)
c.569T>G (p.Val190Gly)
1g.8325989T=CA1152270683SLC45A1c.662T= (p.Val221=)
c.764T= (p.Val255=)
c.671T= (p.Val224=)
c.56T= (p.Val19=)
c.569T= (p.Val190=)
1g.8325990G>ACA415835922SLC45A1c.663G>A (p.Val221=)
c.765G>A (p.Val255=)
c.672G>A (p.Val224=)
c.57G>A (p.Val19=)
c.570G>A (p.Val190=)
1g.8325990G>CCA415835923SLC45A1c.663G>C (p.Val221=)
c.765G>C (p.Val255=)
c.672G>C (p.Val224=)
c.57G>C (p.Val19=)
c.570G>C (p.Val190=)
1g.8325990G>TCA415835924SLC45A1c.663G>T (p.Val221=)
c.765G>T (p.Val255=)
c.672G>T (p.Val224=)
c.57G>T (p.Val19=)
c.570G>T (p.Val190=)
 gnomAD v4
1g.8325991T>ACA338162748SLC45A1c.664T>A (p.Cys222Ser)
c.766T>A (p.Cys256Ser)
c.673T>A (p.Cys225Ser)
c.58T>A (p.Cys20Ser)
c.571T>A (p.Cys191Ser)
1g.8325991T>CCA338162749SLC45A1c.664T>C (p.Cys222Arg)
c.766T>C (p.Cys256Arg)
c.673T>C (p.Cys225Arg)
c.58T>C (p.Cys20Arg)
c.571T>C (p.Cys191Arg)
1g.8325991T>GCA338162750SLC45A1c.664T>G (p.Cys222Gly)
c.766T>G (p.Cys256Gly)
c.673T>G (p.Cys225Gly)
c.58T>G (p.Cys20Gly)
c.571T>G (p.Cys191Gly)
1g.8325992G>ACA338162751SLC45A1c.665G>A (p.Cys222Tyr)
c.767G>A (p.Cys256Tyr)
c.674G>A (p.Cys225Tyr)
c.59G>A (p.Cys20Tyr)
c.572G>A (p.Cys191Tyr)
1g.8325992G>CCA338162752SLC45A1c.665G>C (p.Cys222Ser)
c.767G>C (p.Cys256Ser)
c.674G>C (p.Cys225Ser)
c.59G>C (p.Cys20Ser)
c.572G>C (p.Cys191Ser)
1g.8325992G>TCA338162753SLC45A1c.665G>T (p.Cys222Phe)
c.767G>T (p.Cys256Phe)
c.674G>T (p.Cys225Phe)
c.59G>T (p.Cys20Phe)
c.572G>T (p.Cys191Phe)
 gnomAD v4
1g.8325993C>ACA338162754SLC45A1c.666C>A (p.Cys222Ter)
c.768C>A (p.Cys256Ter)
c.675C>A (p.Cys225Ter)
c.60C>A (p.Cys20Ter)
c.573C>A (p.Cys191Ter)
 COSMIC
1g.8325993C>GCA338162755SLC45A1c.666C>G (p.Cys222Trp)
c.768C>G (p.Cys256Trp)
c.675C>G (p.Cys225Trp)
c.60C>G (p.Cys20Trp)
c.573C>G (p.Cys191Trp)
1g.8325993C>TCA415835929SLC45A1c.666C>T (p.Cys222=)
c.768C>T (p.Cys256=)
c.675C>T (p.Cys225=)
c.60C>T (p.Cys20=)
c.573C>T (p.Cys191=)
 gnomAD v4
1g.8325994A>CCA338162756SLC45A1c.667A>C (p.Ser223Arg)
c.769A>C (p.Ser257Arg)
c.676A>C (p.Ser226Arg)
c.61A>C (p.Ser21Arg)
c.574A>C (p.Ser192Arg)
1g.8325994A>GCA338162757SLC45A1c.667A>G (p.Ser223Gly)
c.769A>G (p.Ser257Gly)
c.676A>G (p.Ser226Gly)
c.61A>G (p.Ser21Gly)
c.574A>G (p.Ser192Gly)
 gnomAD v4
1g.8325994A>TCA338162758SLC45A1c.667A>T (p.Ser223Cys)
c.769A>T (p.Ser257Cys)
c.676A>T (p.Ser226Cys)
c.61A>T (p.Ser21Cys)
c.574A>T (p.Ser192Cys)
1g.8325995G>ACA570158SLC45A1c.668G>A (p.Ser223Asn)
c.770G>A (p.Ser257Asn)
c.677G>A (p.Ser226Asn)
c.62G>A (p.Ser21Asn)
c.575G>A (p.Ser192Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8325995G>CCA338162760SLC45A1c.668G>C (p.Ser223Thr)
c.770G>C (p.Ser257Thr)
c.677G>C (p.Ser226Thr)
c.62G>C (p.Ser21Thr)
c.575G>C (p.Ser192Thr)
1g.8325995G=CA1152270685SLC45A1c.668G= (p.Ser223=)
c.770G= (p.Ser257=)
c.677G= (p.Ser226=)
c.62G= (p.Ser21=)
c.575G= (p.Ser192=)
1g.8325995G>TCA338162759SLC45A1c.668G>T (p.Ser223Ile)
c.770G>T (p.Ser257Ile)
c.677G>T (p.Ser226Ile)
c.62G>T (p.Ser21Ile)
c.575G>T (p.Ser192Ile)
 gnomAD v4
1g.8325996C>ACA338162761SLC45A1c.669C>A (p.Ser223Arg)
c.771C>A (p.Ser257Arg)
c.678C>A (p.Ser226Arg)
c.63C>A (p.Ser21Arg)
c.576C>A (p.Ser192Arg)
1g.8325996C>GCA338162762SLC45A1c.669C>G (p.Ser223Arg)
c.771C>G (p.Ser257Arg)
c.678C>G (p.Ser226Arg)
c.63C>G (p.Ser21Arg)
c.576C>G (p.Ser192Arg)
1g.8325996C>TCA415835931SLC45A1c.669C>T (p.Ser223=)
c.771C>T (p.Ser257=)
c.678C>T (p.Ser226=)
c.63C>T (p.Ser21=)
c.576C>T (p.Ser192=)
 gnomAD v4
1g.8325999delCA2643069221SLC45A1c.672del (p.Ala225GlnfsTer7)
c.774del (p.Ala259GlnfsTer7)
c.681del (p.Ala228GlnfsTer7)
c.66del (p.Ala23GlnfsTer7)
c.579del (p.Ala194GlnfsTer7)
 gnomAD v4
1g.8325997C>ACA338162763SLC45A1c.670C>A (p.Pro224Thr)
c.772C>A (p.Pro258Thr)
c.679C>A (p.Pro227Thr)
c.64C>A (p.Pro22Thr)
c.577C>A (p.Pro193Thr)
1g.8325997C>GCA338162764SLC45A1c.670C>G (p.Pro224Ala)
c.772C>G (p.Pro258Ala)
c.679C>G (p.Pro227Ala)
c.64C>G (p.Pro22Ala)
c.577C>G (p.Pro193Ala)
1g.8325997C>TCA338162765SLC45A1c.670C>T (p.Pro224Ser)
c.772C>T (p.Pro258Ser)
c.679C>T (p.Pro227Ser)
c.64C>T (p.Pro22Ser)
c.577C>T (p.Pro193Ser)
 gnomAD v4
1g.8325998C>ACA338162766SLC45A1c.671C>A (p.Pro224His)
c.773C>A (p.Pro258His)
c.680C>A (p.Pro227His)
c.65C>A (p.Pro22His)
c.578C>A (p.Pro193His)
1g.8325998C>GCA338162767SLC45A1c.671C>G (p.Pro224Arg)
c.773C>G (p.Pro258Arg)
c.680C>G (p.Pro227Arg)
c.65C>G (p.Pro22Arg)
c.578C>G (p.Pro193Arg)
1g.8325998C>TCA338162768SLC45A1c.671C>T (p.Pro224Leu)
c.773C>T (p.Pro258Leu)
c.680C>T (p.Pro227Leu)
c.65C>T (p.Pro22Leu)
c.578C>T (p.Pro193Leu)
1g.8325999C>ACA415835934SLC45A1c.672C>A (p.Pro224=)
c.774C>A (p.Pro258=)
c.681C>A (p.Pro227=)
c.66C>A (p.Pro22=)
c.579C>A (p.Pro193=)
 gnomAD v4
1g.8325999C=CA1143763962SLC45A1c.672C= (p.Pro224=)
c.774C= (p.Pro258=)
c.681C= (p.Pro227=)
c.66C= (p.Pro22=)
c.579C= (p.Pro193=)
1g.8325999C>GCA415835933SLC45A1c.672C>G (p.Pro224=)
c.774C>G (p.Pro258=)
c.681C>G (p.Pro227=)
c.66C>G (p.Pro22=)
c.579C>G (p.Pro193=)
 dbSNP
1g.8325999C>TCA570159SLC45A1c.672C>T (p.Pro224=)
c.774C>T (p.Pro258=)
c.681C>T (p.Pro227=)
c.66C>T (p.Pro22=)
c.579C>T (p.Pro193=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8326000G>ACA570160SLC45A1c.673G>A (p.Ala225Thr)
c.775G>A (p.Ala259Thr)
c.682G>A (p.Ala228Thr)
c.67G>A (p.Ala23Thr)
c.580G>A (p.Ala194Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.8326000G>CCA338162769SLC45A1c.673G>C (p.Ala225Pro)
c.775G>C (p.Ala259Pro)
c.682G>C (p.Ala228Pro)
c.67G>C (p.Ala23Pro)
c.580G>C (p.Ala194Pro)
1g.8326000G=CA1149069210SLC45A1c.673G= (p.Ala225=)
c.775G= (p.Ala259=)
c.682G= (p.Ala228=)
c.67G= (p.Ala23=)
c.580G= (p.Ala194=)
1g.8326000G>TCA338162770SLC45A1c.673G>T (p.Ala225Ser)
c.775G>T (p.Ala259Ser)
c.682G>T (p.Ala228Ser)
c.67G>T (p.Ala23Ser)
c.580G>T (p.Ala194Ser)
 gnomAD v4
1g.8326001C>ACA338162773SLC45A1c.674C>A (p.Ala225Glu)
c.776C>A (p.Ala259Glu)
c.683C>A (p.Ala228Glu)
c.68C>A (p.Ala23Glu)
c.581C>A (p.Ala194Glu)
1g.8326001C=CA1152270693SLC45A1c.674C= (p.Ala225=)
c.776C= (p.Ala259=)
c.683C= (p.Ala228=)
c.68C= (p.Ala23=)
c.581C= (p.Ala194=)
1g.8326001C>GCA338162772SLC45A1c.674C>G (p.Ala225Gly)
c.776C>G (p.Ala259Gly)
c.683C>G (p.Ala228Gly)
c.68C>G (p.Ala23Gly)
c.581C>G (p.Ala194Gly)
1g.8326001C>TCA338162771SLC45A1c.674C>T (p.Ala225Val)
c.776C>T (p.Ala259Val)
c.683C>T (p.Ala228Val)
c.68C>T (p.Ala23Val)
c.581C>T (p.Ala194Val)
 gnomAD v4
1g.8326002A>CCA415835939SLC45A1c.675A>C (p.Ala225=)
c.777A>C (p.Ala259=)
c.684A>C (p.Ala228=)
c.69A>C (p.Ala23=)
c.582A>C (p.Ala194=)
1g.8326002A>GCA415835940SLC45A1c.675A>G (p.Ala225=)
c.777A>G (p.Ala259=)
c.684A>G (p.Ala228=)
c.69A>G (p.Ala23=)
c.582A>G (p.Ala194=)
 dbSNP
1g.8326002A>TCA415835941SLC45A1c.675A>T (p.Ala225=)
c.777A>T (p.Ala259=)
c.684A>T (p.Ala228=)
c.69A>T (p.Ala23=)
c.582A>T (p.Ala194=)
1g.8326003_8326004dupCA521020098SLC45A1c.676_677dup (p.Asp226GlufsTer7)
c.778_779dup (p.Asp260GlufsTer7)
c.685_686dup (p.Asp229GlufsTer7)
c.70_71dup (p.Asp24GlufsTer7)
c.583_584dup (p.Asp195GlufsTer7)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8326003G>ACA338162776SLC45A1c.676G>A (p.Asp226Asn)
c.778G>A (p.Asp260Asn)
c.685G>A (p.Asp229Asn)
c.70G>A (p.Asp24Asn)
c.583G>A (p.Asp195Asn)
1g.8326003G>CCA338162774SLC45A1c.676G>C (p.Asp226His)
c.778G>C (p.Asp260His)
c.685G>C (p.Asp229His)
c.70G>C (p.Asp24His)
c.583G>C (p.Asp195His)
 gnomAD v4
1g.8326003G>TCA338162775SLC45A1c.676G>T (p.Asp226Tyr)
c.778G>T (p.Asp260Tyr)
c.685G>T (p.Asp229Tyr)
c.70G>T (p.Asp24Tyr)
c.583G>T (p.Asp195Tyr)
 gnomAD v4
1g.8326004A>CCA338162777SLC45A1c.677A>C (p.Asp226Ala)
c.779A>C (p.Asp260Ala)
c.686A>C (p.Asp229Ala)
c.71A>C (p.Asp24Ala)
c.584A>C (p.Asp195Ala)
1g.8326004A>GCA338162778SLC45A1c.677A>G (p.Asp226Gly)
c.779A>G (p.Asp260Gly)
c.686A>G (p.Asp229Gly)
c.71A>G (p.Asp24Gly)
c.584A>G (p.Asp195Gly)
1g.8326004A>TCA338162779SLC45A1c.677A>T (p.Asp226Val)
c.779A>T (p.Asp260Val)
c.686A>T (p.Asp229Val)
c.71A>T (p.Asp24Val)
c.584A>T (p.Asp195Val)
 gnomAD v4
1g.8326005C>ACA338162780SLC45A1c.678C>A (p.Asp226Glu)
c.780C>A (p.Asp260Glu)
c.687C>A (p.Asp229Glu)
c.72C>A (p.Asp24Glu)
c.585C>A (p.Asp195Glu)
 gnomAD v4
1g.8326005C=CA1152270694SLC45A1c.678C= (p.Asp226=)
c.780C= (p.Asp260=)
c.687C= (p.Asp229=)
c.72C= (p.Asp24=)
c.585C= (p.Asp195=)
1g.8326005C>GCA338162782SLC45A1c.678C>G (p.Asp226Glu)
c.780C>G (p.Asp260Glu)
c.687C>G (p.Asp229Glu)
c.72C>G (p.Asp24Glu)
c.585C>G (p.Asp195Glu)
1g.8326005C>TCA570161SLC45A1c.678C>T (p.Asp226=)
c.780C>T (p.Asp260=)
c.687C>T (p.Asp229=)
c.72C>T (p.Asp24=)
c.585C>T (p.Asp195=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8326006C>ACA338162785SLC45A1c.679C>A (p.Gln227Lys)
c.781C>A (p.Gln261Lys)
c.688C>A (p.Gln230Lys)
c.73C>A (p.Gln25Lys)
c.586C>A (p.Gln196Lys)
1g.8326006C>GCA338162786SLC45A1c.679C>G (p.Gln227Glu)
c.781C>G (p.Gln261Glu)
c.688C>G (p.Gln230Glu)
c.73C>G (p.Gln25Glu)
c.586C>G (p.Gln196Glu)
1g.8326006C>TCA338162787SLC45A1c.679C>T (p.Gln227Ter)
c.781C>T (p.Gln261Ter)
c.688C>T (p.Gln230Ter)
c.73C>T (p.Gln25Ter)
c.586C>T (p.Gln196Ter)
1g.8326007A>CCA338162790SLC45A1c.680A>C (p.Gln227Pro)
c.782A>C (p.Gln261Pro)
c.689A>C (p.Gln230Pro)
c.74A>C (p.Gln25Pro)
c.587A>C (p.Gln196Pro)
1g.8326007A>GCA338162792SLC45A1c.680A>G (p.Gln227Arg)
c.782A>G (p.Gln261Arg)
c.689A>G (p.Gln230Arg)
c.74A>G (p.Gln25Arg)
c.587A>G (p.Gln196Arg)
 gnomAD v4
1g.8326007A>TCA338162793SLC45A1c.680A>T (p.Gln227Leu)
c.782A>T (p.Gln261Leu)
c.689A>T (p.Gln230Leu)
c.74A>T (p.Gln25Leu)
c.587A>T (p.Gln196Leu)
1g.8326007_8326010delCA2643069222SLC45A1c.680_683del (p.Gln227ProfsTer4)
c.782_785del (p.Gln261ProfsTer4)
c.689_692del (p.Gln230ProfsTer4)
c.74_77del (p.Gln25ProfsTer4)
c.587_590del (p.Gln196ProfsTer4)
 gnomAD v4
1g.8326008G>ACA415835945SLC45A1c.681G>A (p.Gln227=)
c.783G>A (p.Gln261=)
c.690G>A (p.Gln230=)
c.75G>A (p.Gln25=)
c.588G>A (p.Gln196=)
 gnomAD v4
1g.8326008G>CCA338162795SLC45A1c.681G>C (p.Gln227His)
c.783G>C (p.Gln261His)
c.690G>C (p.Gln230His)
c.75G>C (p.Gln25His)
c.588G>C (p.Gln196His)
1g.8326008G>TCA338162797SLC45A1c.681G>T (p.Gln227His)
c.783G>T (p.Gln261His)
c.690G>T (p.Gln230His)
c.75G>T (p.Gln25His)
c.588G>T (p.Gln196His)
 gnomAD v4
1g.8326009G>ACA338162799SLC45A1c.682G>A (p.Asp228Asn)
c.784G>A (p.Asp262Asn)
c.691G>A (p.Asp231Asn)
c.76G>A (p.Asp26Asn)
c.589G>A (p.Asp197Asn)
1g.8326009G>CCA570162SLC45A1c.682G>C (p.Asp228His)
c.784G>C (p.Asp262His)
c.691G>C (p.Asp231His)
c.76G>C (p.Asp26His)
c.589G>C (p.Asp197His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8326009G=CA1152270697SLC45A1c.682G= (p.Asp228=)
c.784G= (p.Asp262=)
c.691G= (p.Asp231=)
c.76G= (p.Asp26=)
c.589G= (p.Asp197=)
1g.8326009G>TCA338162802SLC45A1c.682G>T (p.Asp228Tyr)
c.784G>T (p.Asp262Tyr)
c.691G>T (p.Asp231Tyr)
c.76G>T (p.Asp26Tyr)
c.589G>T (p.Asp197Tyr)
 gnomAD v4
1g.8326010A>CCA338162803SLC45A1c.683A>C (p.Asp228Ala)
c.785A>C (p.Asp262Ala)
c.692A>C (p.Asp231Ala)
c.77A>C (p.Asp26Ala)
c.590A>C (p.Asp197Ala)
 gnomAD v4
1g.8326010A>GCA338162805SLC45A1c.683A>G (p.Asp228Gly)
c.785A>G (p.Asp262Gly)
c.692A>G (p.Asp231Gly)
c.77A>G (p.Asp26Gly)
c.590A>G (p.Asp197Gly)
1g.8326010A>TCA338162807SLC45A1c.683A>T (p.Asp228Val)
c.785A>T (p.Asp262Val)
c.692A>T (p.Asp231Val)
c.77A>T (p.Asp26Val)
c.590A>T (p.Asp197Val)
1g.8326011C>ACA338162808SLC45A1c.684C>A (p.Asp228Glu)
c.786C>A (p.Asp262Glu)
c.693C>A (p.Asp231Glu)
c.78C>A (p.Asp26Glu)
c.591C>A (p.Asp197Glu)
1g.8326011C=CA1152270699SLC45A1c.684C= (p.Asp228=)
c.786C= (p.Asp262=)
c.693C= (p.Asp231=)
c.78C= (p.Asp26=)
c.591C= (p.Asp197=)
1g.8326011C>GCA338162810SLC45A1c.684C>G (p.Asp228Glu)
c.786C>G (p.Asp262Glu)
c.693C>G (p.Asp231Glu)
c.78C>G (p.Asp26Glu)
c.591C>G (p.Asp197Glu)
1g.8326011C>TCA415835946SLC45A1c.684C>T (p.Asp228=)
c.786C>T (p.Asp262=)
c.693C>T (p.Asp231=)
c.78C>T (p.Asp26=)
c.591C>T (p.Asp197=)
 dbSNP gnomAD v2 gnomAD v4
1g.8326012C>ACA415835947SLC45A1c.685C>A (p.Arg229=)
c.787C>A (p.Arg263=)
c.694C>A (p.Arg232=)
c.79C>A (p.Arg27=)
c.592C>A (p.Arg198=)
1g.8326012C>GCA338162812SLC45A1c.685C>G (p.Arg229Gly)
c.787C>G (p.Arg263Gly)
c.694C>G (p.Arg232Gly)
c.79C>G (p.Arg27Gly)
c.592C>G (p.Arg198Gly)
 gnomAD v4
1g.8326012C>TCA338162814SLC45A1c.685C>T (p.Arg229Ter)
c.787C>T (p.Arg263Ter)
c.694C>T (p.Arg232Ter)
c.79C>T (p.Arg27Ter)
c.592C>T (p.Arg198Ter)
 gnomAD v4
1g.8326013G>ACA570163SLC45A1c.686G>A (p.Arg229Gln)
c.788G>A (p.Arg263Gln)
c.695G>A (p.Arg232Gln)
c.80G>A (p.Arg27Gln)
c.593G>A (p.Arg198Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8326013G>CCA338162817SLC45A1c.686G>C (p.Arg229Pro)
c.788G>C (p.Arg263Pro)
c.695G>C (p.Arg232Pro)
c.80G>C (p.Arg27Pro)
c.593G>C (p.Arg198Pro)
1g.8326013G=CA1144003116SLC45A1c.686G= (p.Arg229=)
c.788G= (p.Arg263=)
c.695G= (p.Arg232=)
c.80G= (p.Arg27=)
c.593G= (p.Arg198=)
1g.8326013G>TCA338162818SLC45A1c.686G>T (p.Arg229Leu)
c.788G>T (p.Arg263Leu)
c.695G>T (p.Arg232Leu)
c.80G>T (p.Arg27Leu)
c.593G>T (p.Arg198Leu)
 gnomAD v4
1g.8326014A=CA1152270707SLC45A1c.687A= (p.Arg229=)
c.789A= (p.Arg263=)
c.696A= (p.Arg232=)
c.81A= (p.Arg27=)
c.594A= (p.Arg198=)
1g.8326014A>CCA415835950SLC45A1c.687A>C (p.Arg229=)
c.789A>C (p.Arg263=)
c.696A>C (p.Arg232=)
c.81A>C (p.Arg27=)
c.594A>C (p.Arg198=)
 dbSNP gnomAD v3 gnomAD v4
1g.8326014A>GCA415835949SLC45A1c.687A>G (p.Arg229=)
c.789A>G (p.Arg263=)
c.696A>G (p.Arg232=)
c.81A>G (p.Arg27=)
c.594A>G (p.Arg198=)
1g.8326014A>TCA415835948SLC45A1c.687A>T (p.Arg229=)
c.789A>T (p.Arg263=)
c.696A>T (p.Arg232=)
c.81A>T (p.Arg27=)
c.594A>T (p.Arg198=)
1g.8326015G>ACA338162823SLC45A1c.688G>A (p.Gly230Ser)
c.790G>A (p.Gly264Ser)
c.697G>A (p.Gly233Ser)
c.82G>A (p.Gly28Ser)
c.595G>A (p.Gly199Ser)
 dbSNP gnomAD v4
1g.8326015G>CCA338162822SLC45A1c.688G>C (p.Gly230Arg)
c.790G>C (p.Gly264Arg)
c.697G>C (p.Gly233Arg)
c.82G>C (p.Gly28Arg)
c.595G>C (p.Gly199Arg)
1g.8326015G=CA1152270709SLC45A1c.688G= (p.Gly230=)
c.790G= (p.Gly264=)
c.697G= (p.Gly233=)
c.82G= (p.Gly28=)
c.595G= (p.Gly199=)
1g.8326015G>TCA338162821SLC45A1c.688G>T (p.Gly230Cys)
c.790G>T (p.Gly264Cys)
c.697G>T (p.Gly233Cys)
c.82G>T (p.Gly28Cys)
c.595G>T (p.Gly199Cys)
 gnomAD v4
1g.8326016G>ACA338162825SLC45A1c.689G>A (p.Gly230Asp)
c.791G>A (p.Gly264Asp)
c.698G>A (p.Gly233Asp)
c.83G>A (p.Gly28Asp)
c.596G>A (p.Gly199Asp)
1g.8326016G>CCA338162827SLC45A1c.689G>C (p.Gly230Ala)
c.791G>C (p.Gly264Ala)
c.698G>C (p.Gly233Ala)
c.83G>C (p.Gly28Ala)
c.596G>C (p.Gly199Ala)
1g.8326016G>TCA338162829SLC45A1c.689G>T (p.Gly230Val)
c.791G>T (p.Gly264Val)
c.698G>T (p.Gly233Val)
c.83G>T (p.Gly28Val)
c.596G>T (p.Gly199Val)
 gnomAD v4
1g.8326017C>ACA415835951SLC45A1c.690C>A (p.Gly230=)
c.792C>A (p.Gly264=)
c.699C>A (p.Gly233=)
c.84C>A (p.Gly28=)
c.597C>A (p.Gly199=)
 gnomAD v4
1g.8326017C>GCA415835952SLC45A1c.690C>G (p.Gly230=)
c.792C>G (p.Gly264=)
c.699C>G (p.Gly233=)
c.84C>G (p.Gly28=)
c.597C>G (p.Gly199=)
1g.8326017C>TCA415835953SLC45A1c.690C>T (p.Gly230=)
c.792C>T (p.Gly264=)
c.699C>T (p.Gly233=)
c.84C>T (p.Gly28=)
c.597C>T (p.Gly199=)
1g.8326018C>ACA338162831SLC45A1c.691C>A (p.Leu231Met)
c.793C>A (p.Leu265Met)
c.700C>A (p.Leu234Met)
c.85C>A (p.Leu29Met)
c.598C>A (p.Leu200Met)
1g.8326018C>GCA338162833SLC45A1c.691C>G (p.Leu231Val)
c.793C>G (p.Leu265Val)
c.700C>G (p.Leu234Val)
c.85C>G (p.Leu29Val)
c.598C>G (p.Leu200Val)
 dbSNP gnomAD v3 gnomAD v4
1g.8326018C>TCA415835955SLC45A1c.691C>T (p.Leu231=)
c.793C>T (p.Leu265=)
c.700C>T (p.Leu234=)
c.85C>T (p.Leu29=)
c.598C>T (p.Leu200=)
1g.8326019T>ACA338162835SLC45A1c.692T>A (p.Leu231Gln)
c.794T>A (p.Leu265Gln)
c.701T>A (p.Leu234Gln)
c.86T>A (p.Leu29Gln)
c.599T>A (p.Leu200Gln)
1g.8326019T>CCA338162836SLC45A1c.692T>C (p.Leu231Pro)
c.794T>C (p.Leu265Pro)
c.701T>C (p.Leu234Pro)
c.86T>C (p.Leu29Pro)
c.599T>C (p.Leu200Pro)
 gnomAD v4
1g.8326019T>GCA338162838SLC45A1c.692T>G (p.Leu231Arg)
c.794T>G (p.Leu265Arg)
c.701T>G (p.Leu234Arg)
c.86T>G (p.Leu29Arg)
c.599T>G (p.Leu200Arg)
1g.8326020G>ACA415835956SLC45A1c.693G>A (p.Leu231=)
c.795G>A (p.Leu265=)
c.702G>A (p.Leu234=)
c.87G>A (p.Leu29=)
c.600G>A (p.Leu200=)
1g.8326020G>CCA415835958SLC45A1c.693G>C (p.Leu231=)
c.795G>C (p.Leu265=)
c.702G>C (p.Leu234=)
c.87G>C (p.Leu29=)
c.600G>C (p.Leu200=)
1g.8326020G>TCA415835959SLC45A1c.693G>T (p.Leu231=)
c.795G>T (p.Leu265=)
c.702G>T (p.Leu234=)
c.87G>T (p.Leu29=)
c.600G>T (p.Leu200=)
 gnomAD v4
1g.8326020_8326021delCA2574198914SLC45A1c.693_694del (p.Asn232HisfsTer23)
c.795_796del (p.Asn266HisfsTer23)
c.702_703del (p.Asn235HisfsTer23)
c.87_88del (p.Asn30HisfsTer23)
c.600_601del (p.Asn201HisfsTer23)
1g.8326021A>CCA338162839SLC45A1c.694A>C (p.Asn232His)
c.796A>C (p.Asn266His)
c.703A>C (p.Asn235His)
c.88A>C (p.Asn30His)
c.601A>C (p.Asn201His)
1g.8326021A>GCA338162840SLC45A1c.694A>G (p.Asn232Asp)
c.796A>G (p.Asn266Asp)
c.703A>G (p.Asn235Asp)
c.88A>G (p.Asn30Asp)
c.601A>G (p.Asn201Asp)
1g.8326021A>TCA338162842SLC45A1c.694A>T (p.Asn232Tyr)
c.796A>T (p.Asn266Tyr)
c.703A>T (p.Asn235Tyr)
c.88A>T (p.Asn30Tyr)
c.601A>T (p.Asn201Tyr)
1g.8326022A>CCA338162844SLC45A1c.695A>C (p.Asn232Thr)
c.797A>C (p.Asn266Thr)
c.704A>C (p.Asn235Thr)
c.89A>C (p.Asn30Thr)
c.602A>C (p.Asn201Thr)
1g.8326022A>GCA338162845SLC45A1c.695A>G (p.Asn232Ser)
c.797A>G (p.Asn266Ser)
c.704A>G (p.Asn235Ser)
c.89A>G (p.Asn30Ser)
c.602A>G (p.Asn201Ser)
1g.8326022A>TCA338162847SLC45A1c.695A>T (p.Asn232Ile)
c.797A>T (p.Asn266Ile)
c.704A>T (p.Asn235Ile)
c.89A>T (p.Asn30Ile)
c.602A>T (p.Asn201Ile)
1g.8326023C>ACA338162850SLC45A1c.696C>A (p.Asn232Lys)
c.798C>A (p.Asn266Lys)
c.705C>A (p.Asn235Lys)
c.90C>A (p.Asn30Lys)
c.603C>A (p.Asn201Lys)
1g.8326023C=CA1152270711SLC45A1c.696C= (p.Asn232=)
c.798C= (p.Asn266=)
c.705C= (p.Asn235=)
c.90C= (p.Asn30=)
c.603C= (p.Asn201=)
1g.8326023C>GCA570164SLC45A1c.696C>G (p.Asn232Lys)
c.798C>G (p.Asn266Lys)
c.705C>G (p.Asn235Lys)
c.90C>G (p.Asn30Lys)
c.603C>G (p.Asn201Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8326023C>TCA415835960SLC45A1c.696C>T (p.Asn232=)
c.798C>T (p.Asn266=)
c.705C>T (p.Asn235=)
c.90C>T (p.Asn30=)
c.603C>T (p.Asn201=)
 gnomAD v4
1g.8326024A>CCA338162852SLC45A1c.697A>C (p.Ile233Leu)
c.799A>C (p.Ile267Leu)
c.706A>C (p.Ile236Leu)
c.91A>C (p.Ile31Leu)
c.604A>C (p.Ile202Leu)
1g.8326024A>GCA338162854SLC45A1c.697A>G (p.Ile233Val)
c.799A>G (p.Ile267Val)
c.706A>G (p.Ile236Val)
c.91A>G (p.Ile31Val)
c.604A>G (p.Ile202Val)
 gnomAD v4
1g.8326024A>TCA338162855SLC45A1c.697A>T (p.Ile233Phe)
c.799A>T (p.Ile267Phe)
c.706A>T (p.Ile236Phe)
c.91A>T (p.Ile31Phe)
c.604A>T (p.Ile202Phe)
1g.8326025T>ACA338162857SLC45A1c.698T>A (p.Ile233Asn)
c.800T>A (p.Ile267Asn)
c.707T>A (p.Ile236Asn)
c.92T>A (p.Ile31Asn)
c.605T>A (p.Ile202Asn)
1g.8326025T>CCA338162859SLC45A1c.698T>C (p.Ile233Thr)
c.800T>C (p.Ile267Thr)
c.707T>C (p.Ile236Thr)
c.92T>C (p.Ile31Thr)
c.605T>C (p.Ile202Thr)
1g.8326025T>GCA338162861SLC45A1c.698T>G (p.Ile233Ser)
c.800T>G (p.Ile267Ser)
c.707T>G (p.Ile236Ser)
c.92T>G (p.Ile31Ser)
c.605T>G (p.Ile202Ser)
1g.8326026C>ACA415835961SLC45A1c.699C>A (p.Ile233=)
c.801C>A (p.Ile267=)
c.708C>A (p.Ile236=)
c.93C>A (p.Ile31=)
c.606C>A (p.Ile202=)
1g.8326026C>GCA338162862SLC45A1c.699C>G (p.Ile233Met)
c.801C>G (p.Ile267Met)
c.708C>G (p.Ile236Met)
c.93C>G (p.Ile31Met)
c.606C>G (p.Ile202Met)
1g.8326026C>TCA415835962SLC45A1c.699C>T (p.Ile233=)
c.801C>T (p.Ile267=)
c.708C>T (p.Ile236=)
c.93C>T (p.Ile31=)
c.606C>T (p.Ile202=)
1g.8326027C>ACA338162864SLC45A1c.700C>A (p.His234Asn)
c.802C>A (p.His268Asn)
c.709C>A (p.His237Asn)
c.94C>A (p.His32Asn)
c.607C>A (p.His203Asn)
1g.8326027C>GCA338162866SLC45A1c.700C>G (p.His234Asp)
c.802C>G (p.His268Asp)
c.709C>G (p.His237Asp)
c.94C>G (p.His32Asp)
c.607C>G (p.His203Asp)
1g.8326027C>TCA338162868SLC45A1c.700C>T (p.His234Tyr)
c.802C>T (p.His268Tyr)
c.709C>T (p.His237Tyr)
c.94C>T (p.His32Tyr)
c.607C>T (p.His203Tyr)
1g.8326028A>CCA338162870SLC45A1c.701A>C (p.His234Pro)
c.803A>C (p.His268Pro)
c.710A>C (p.His237Pro)
c.95A>C (p.His32Pro)
c.608A>C (p.His203Pro)
1g.8326028A>GCA338162871SLC45A1c.701A>G (p.His234Arg)
c.803A>G (p.His268Arg)
c.710A>G (p.His237Arg)
c.95A>G (p.His32Arg)
c.608A>G (p.His203Arg)
1g.8326028A>TCA338162873SLC45A1c.701A>T (p.His234Leu)
c.803A>T (p.His268Leu)
c.710A>T (p.His237Leu)
c.95A>T (p.His32Leu)
c.608A>T (p.His203Leu)
1g.8326029C>ACA338162877SLC45A1c.702C>A (p.His234Gln)
c.804C>A (p.His268Gln)
c.711C>A (p.His237Gln)
c.96C>A (p.His32Gln)
c.609C>A (p.His203Gln)
 gnomAD v4
1g.8326029C=CA1143453460SLC45A1c.702C= (p.His234=)
c.804C= (p.His268=)
c.711C= (p.His237=)
c.96C= (p.His32=)
c.609C= (p.His203=)
1g.8326029C>GCA338162875SLC45A1c.702C>G (p.His234Gln)
c.804C>G (p.His268Gln)
c.711C>G (p.His237Gln)
c.96C>G (p.His32Gln)
c.609C>G (p.His203Gln)
1g.8326029C>TCA570165SLC45A1c.702C>T (p.His234=)
c.804C>T (p.His268=)
c.711C>T (p.His237=)
c.96C>T (p.His32=)
c.609C>T (p.His203=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8326030G>ACA570166SLC45A1c.703G>A (p.Ala235Thr)
c.805G>A (p.Ala269Thr)
c.712G>A (p.Ala238Thr)
c.97G>A (p.Ala33Thr)
c.610G>A (p.Ala204Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.8326030G>CCA338162880SLC45A1c.703G>C (p.Ala235Pro)
c.805G>C (p.Ala269Pro)
c.712G>C (p.Ala238Pro)
c.97G>C (p.Ala33Pro)
c.610G>C (p.Ala204Pro)
1g.8326030G=CA1148303616SLC45A1c.703G= (p.Ala235=)
c.805G= (p.Ala269=)
c.712G= (p.Ala238=)
c.97G= (p.Ala33=)
c.610G= (p.Ala204=)
1g.8326030G>TCA338162882SLC45A1c.703G>T (p.Ala235Ser)
c.805G>T (p.Ala269Ser)
c.712G>T (p.Ala238Ser)
c.97G>T (p.Ala33Ser)
c.610G>T (p.Ala204Ser)
 gnomAD v4
1g.8326031C>ACA338162884SLC45A1c.704C>A (p.Ala235Asp)
c.806C>A (p.Ala269Asp)
c.713C>A (p.Ala238Asp)
c.98C>A (p.Ala33Asp)
c.611C>A (p.Ala204Asp)
 gnomAD v4
1g.8326031C>GCA338162886SLC45A1c.704C>G (p.Ala235Gly)
c.806C>G (p.Ala269Gly)
c.713C>G (p.Ala238Gly)
c.98C>G (p.Ala33Gly)
c.611C>G (p.Ala204Gly)
1g.8326031C>TCA338162887SLC45A1c.704C>T (p.Ala235Val)
c.806C>T (p.Ala269Val)
c.713C>T (p.Ala238Val)
c.98C>T (p.Ala33Val)
c.611C>T (p.Ala204Val)
1g.8326033delCA2643069223SLC45A1c.706del (p.Leu236SerfsTer?)
c.808del (p.Leu270SerfsTer?)
c.715del (p.Leu239SerfsTer?)
c.100del (p.Leu34SerfsTer?)
c.613del (p.Leu205SerfsTer?)
 gnomAD v4
1g.8326032C>ACA415835963SLC45A1c.705C>A (p.Ala235=)
c.807C>A (p.Ala269=)
c.714C>A (p.Ala238=)
c.99C>A (p.Ala33=)
c.612C>A (p.Ala204=)
1g.8326032C>GCA415835964SLC45A1c.705C>G (p.Ala235=)
c.807C>G (p.Ala269=)
c.714C>G (p.Ala238=)
c.99C>G (p.Ala33=)
c.612C>G (p.Ala204=)
1g.8326032C>TCA415835965SLC45A1c.705C>T (p.Ala235=)
c.807C>T (p.Ala269=)
c.714C>T (p.Ala238=)
c.99C>T (p.Ala33=)
c.612C>T (p.Ala204=)
1g.8326033C>ACA338162889SLC45A1c.706C>A (p.Leu236Ile)
c.808C>A (p.Leu270Ile)
c.715C>A (p.Leu239Ile)
c.100C>A (p.Leu34Ile)
c.613C>A (p.Leu205Ile)
1g.8326033C=CA1152270718SLC45A1c.706C= (p.Leu236=)
c.808C= (p.Leu270=)
c.715C= (p.Leu239=)
c.100C= (p.Leu34=)
c.613C= (p.Leu205=)
1g.8326033C>GCA338162891SLC45A1c.706C>G (p.Leu236Val)
c.808C>G (p.Leu270Val)
c.715C>G (p.Leu239Val)
c.100C>G (p.Leu34Val)
c.613C>G (p.Leu205Val)
1g.8326033C>TCA570167SLC45A1c.706C>T (p.Leu236Phe)
c.808C>T (p.Leu270Phe)
c.715C>T (p.Leu239Phe)
c.100C>T (p.Leu34Phe)
c.613C>T (p.Leu205Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8326034T>ACA338162896SLC45A1c.707T>A (p.Leu236His)
c.809T>A (p.Leu270His)
c.716T>A (p.Leu239His)
c.101T>A (p.Leu34His)
c.614T>A (p.Leu205His)
1g.8326034T>CCA338162898SLC45A1c.707T>C (p.Leu236Pro)
c.809T>C (p.Leu270Pro)
c.716T>C (p.Leu239Pro)
c.101T>C (p.Leu34Pro)
c.614T>C (p.Leu205Pro)
1g.8326034T>GCA338162900SLC45A1c.707T>G (p.Leu236Arg)
c.809T>G (p.Leu270Arg)
c.716T>G (p.Leu239Arg)
c.101T>G (p.Leu34Arg)
c.614T>G (p.Leu205Arg)
1g.8326035C>ACA415835967SLC45A1c.708C>A (p.Leu236=)
c.810C>A (p.Leu270=)
c.717C>A (p.Leu239=)
c.102C>A (p.Leu34=)
c.615C>A (p.Leu205=)
1g.8326035C=CA1152270723SLC45A1c.708C= (p.Leu236=)
c.810C= (p.Leu270=)
c.717C= (p.Leu239=)
c.102C= (p.Leu34=)
c.615C= (p.Leu205=)
1g.8326035C>GCA415835966SLC45A1c.708C>G (p.Leu236=)
c.810C>G (p.Leu270=)
c.717C>G (p.Leu239=)
c.102C>G (p.Leu34=)
c.615C>G (p.Leu205=)
1g.8326035C>TCA570168SLC45A1c.708C>T (p.Leu236=)
c.810C>T (p.Leu270=)
c.717C>T (p.Leu239=)
c.102C>T (p.Leu34=)
c.615C>T (p.Leu205=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8326036C>ACA338162905SLC45A1c.709C>A (p.Leu237Met)
c.811C>A (p.Leu271Met)
c.718C>A (p.Leu240Met)
c.103C>A (p.Leu35Met)
c.616C>A (p.Leu206Met)
1g.8326036C=CA1152270724SLC45A1c.709C= (p.Leu237=)
c.811C= (p.Leu271=)
c.718C= (p.Leu240=)
c.103C= (p.Leu35=)
c.616C= (p.Leu206=)
1g.8326036C>GCA338162903SLC45A1c.709C>G (p.Leu237Val)
c.811C>G (p.Leu271Val)
c.718C>G (p.Leu240Val)
c.103C>G (p.Leu35Val)
c.616C>G (p.Leu206Val)
 dbSNP
1g.8326036C>TCA415835968SLC45A1c.709C>T (p.Leu237=)
c.811C>T (p.Leu271=)
c.718C>T (p.Leu240=)
c.103C>T (p.Leu35=)
c.616C>T (p.Leu206=)
1g.8326037T>ACA338162906SLC45A1c.710T>A (p.Leu237Gln)
c.812T>A (p.Leu271Gln)
c.719T>A (p.Leu240Gln)
c.104T>A (p.Leu35Gln)
c.617T>A (p.Leu206Gln)
1g.8326037T>CCA338162907SLC45A1c.710T>C (p.Leu237Pro)
c.812T>C (p.Leu271Pro)
c.719T>C (p.Leu240Pro)
c.104T>C (p.Leu35Pro)
c.617T>C (p.Leu206Pro)
1g.8326037T>GCA338162908SLC45A1c.710T>G (p.Leu237Arg)
c.812T>G (p.Leu271Arg)
c.719T>G (p.Leu240Arg)
c.104T>G (p.Leu35Arg)
c.617T>G (p.Leu206Arg)
1g.8326038G>ACA415835969SLC45A1c.711G>A (p.Leu237=)
c.813G>A (p.Leu271=)
c.720G>A (p.Leu240=)
c.105G>A (p.Leu35=)
c.618G>A (p.Leu206=)
 dbSNP gnomAD v2 gnomAD v4
1g.8326038G>CCA415835970SLC45A1c.711G>C (p.Leu237=)
c.813G>C (p.Leu271=)
c.720G>C (p.Leu240=)
c.105G>C (p.Leu35=)
c.618G>C (p.Leu206=)
 dbSNP gnomAD v3 gnomAD v4
1g.8326038G=CA1152270725SLC45A1c.711G= (p.Leu237=)
c.813G= (p.Leu271=)
c.720G= (p.Leu240=)
c.105G= (p.Leu35=)
c.618G= (p.Leu206=)
1g.8326038G>TCA415835971SLC45A1c.711G>T (p.Leu237=)
c.813G>T (p.Leu271=)
c.720G>T (p.Leu240=)
c.105G>T (p.Leu35=)
c.618G>T (p.Leu206=)
1g.8326039G>ACA338162910SLC45A1c.712G>A (p.Ala238Thr)
c.814G>A (p.Ala272Thr)
c.721G>A (p.Ala241Thr)
c.106G>A (p.Ala36Thr)
c.619G>A (p.Ala207Thr)
 gnomAD v4
1g.8326039G>CCA338162912SLC45A1c.712G>C (p.Ala238Pro)
c.814G>C (p.Ala272Pro)
c.721G>C (p.Ala241Pro)
c.106G>C (p.Ala36Pro)
c.619G>C (p.Ala207Pro)
1g.8326039G>TCA338162913SLC45A1c.712G>T (p.Ala238Ser)
c.814G>T (p.Ala272Ser)
c.721G>T (p.Ala241Ser)
c.106G>T (p.Ala36Ser)
c.619G>T (p.Ala207Ser)
 gnomAD v4
1g.8326040C>ACA338162915SLC45A1c.713C>A (p.Ala238Glu)
c.815C>A (p.Ala272Glu)
c.722C>A (p.Ala241Glu)
c.107C>A (p.Ala36Glu)
c.620C>A (p.Ala207Glu)
 gnomAD v4
1g.8326040C>GCA338162916SLC45A1c.713C>G (p.Ala238Gly)
c.815C>G (p.Ala272Gly)
c.722C>G (p.Ala241Gly)
c.107C>G (p.Ala36Gly)
c.620C>G (p.Ala207Gly)
1g.8326040C>TCA338162919SLC45A1c.713C>T (p.Ala238Val)
c.815C>T (p.Ala272Val)
c.722C>T (p.Ala241Val)
c.107C>T (p.Ala36Val)
c.620C>T (p.Ala207Val)
 gnomAD v4
1g.8326041A=CA1152270728SLC45A1c.714A= (p.Ala238=)
c.816A= (p.Ala272=)
c.723A= (p.Ala241=)
c.108A= (p.Ala36=)
c.621A= (p.Ala207=)
1g.8326041A>CCA415835972SLC45A1c.714A>C (p.Ala238=)
c.816A>C (p.Ala272=)
c.723A>C (p.Ala241=)
c.108A>C (p.Ala36=)
c.621A>C (p.Ala207=)
 dbSNP gnomAD v2 gnomAD v4
1g.8326041A>GCA570169SLC45A1c.714A>G (p.Ala238=)
c.816A>G (p.Ala272=)
c.723A>G (p.Ala241=)
c.108A>G (p.Ala36=)
c.621A>G (p.Ala207=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8326041A>TCA415835973SLC45A1c.714A>T (p.Ala238=)
c.816A>T (p.Ala272=)
c.723A>T (p.Ala241=)
c.108A>T (p.Ala36=)
c.621A>T (p.Ala207=)
1g.8326042G>ACA338162922SLC45A1c.715G>A (p.Gly239Ser)
c.817G>A (p.Gly273Ser)
c.724G>A (p.Gly242Ser)
c.109G>A (p.Gly37Ser)
c.622G>A (p.Gly208Ser)
1g.8326042G>CCA338162923SLC45A1c.715G>C (p.Gly239Arg)
c.817G>C (p.Gly273Arg)
c.724G>C (p.Gly242Arg)
c.109G>C (p.Gly37Arg)
c.622G>C (p.Gly208Arg)
1g.8326042G>TCA338162926SLC45A1c.715G>T (p.Gly239Cys)
c.817G>T (p.Gly273Cys)
c.724G>T (p.Gly242Cys)
c.109G>T (p.Gly37Cys)
c.622G>T (p.Gly208Cys)
1g.8326043G>ACA338162930SLC45A1c.715+1G>A (n.715+1G>A)
c.817+1G>A (n.817+1G>A)
c.724+1G>A (n.724+1G>A)
c.109+1G>A (n.109+1G>A)
c.622+1G>A (n.622+1G>A)
 dbSNP
1g.8326043G>CCA338162933SLC45A1c.715+1G>C (n.715+1G>C)
c.817+1G>C (n.817+1G>C)
c.724+1G>C (n.724+1G>C)
c.109+1G>C (n.109+1G>C)
c.622+1G>C (n.622+1G>C)
1g.8326043G=CA1152270732SLC45A1c.715+1G= (n.715+1G=)
c.817+1G= (n.817+1G=)
c.724+1G= (n.724+1G=)
c.109+1G= (n.109+1G=)
c.622+1G= (n.622+1G=)
1g.8326043G>TCA338162932SLC45A1c.715+1G>T (n.715+1G>T)
c.817+1G>T (n.817+1G>T)
c.724+1G>T (n.724+1G>T)
c.109+1G>T (n.109+1G>T)
c.622+1G>T (n.622+1G>T)
 gnomAD v4
1g.8326044T>ACA338162935SLC45A1c.715+2T>A (n.715+2T>A)
c.817+2T>A (n.817+2T>A)
c.724+2T>A (n.724+2T>A)
c.109+2T>A (n.109+2T>A)
c.622+2T>A (n.622+2T>A)
1g.8326044T>CCA338162939SLC45A1c.715+2T>C (n.715+2T>C)
c.817+2T>C (n.817+2T>C)
c.724+2T>C (n.724+2T>C)
c.109+2T>C (n.109+2T>C)
c.622+2T>C (n.622+2T>C)
 gnomAD v4
1g.8326044T>GCA338162937SLC45A1c.715+2T>G (n.715+2T>G)
c.817+2T>G (n.817+2T>G)
c.724+2T>G (n.724+2T>G)
c.109+2T>G (n.109+2T>G)
c.622+2T>G (n.622+2T>G)
 dbSNP
1g.8326044T=CA1152270735SLC45A1c.715+2T= (n.715+2T=)
c.817+2T= (n.817+2T=)
c.724+2T= (n.724+2T=)
c.109+2T= (n.109+2T=)
c.622+2T= (n.622+2T=)
1g.8326045G>ACA1152270738SLC45A1c.715+3G>A (n.715+3G>A)
c.817+3G>A (n.817+3G>A)
c.724+3G>A (n.724+3G>A)
c.109+3G>A (n.109+3G>A)
c.622+3G>A (n.622+3G>A)
 dbSNP gnomAD v4
1g.8326045G=CA1152270737SLC45A1c.715+3G= (n.715+3G=)
c.817+3G= (n.817+3G=)
c.724+3G= (n.724+3G=)
c.109+3G= (n.109+3G=)
c.622+3G= (n.622+3G=)
1g.8326046A>GCA2643069224SLC45A1c.715+4A>G (n.715+4A>G)
c.817+4A>G (n.817+4A>G)
c.724+4A>G (n.724+4A>G)
c.109+4A>G (n.109+4A>G)
c.622+4A>G (n.622+4A>G)
 gnomAD v4
1g.8326046A>TCA2643069225SLC45A1c.715+4A>T (n.715+4A>T)
c.817+4A>T (n.817+4A>T)
c.724+4A>T (n.724+4A>T)
c.109+4A>T (n.109+4A>T)
c.622+4A>T (n.622+4A>T)
 gnomAD v4
1g.8326051C>ACA2643069226SLC45A1c.715+9C>A (n.715+9C>A)
c.817+9C>A (n.817+9C>A)
c.724+9C>A (n.724+9C>A)
c.109+9C>A (n.109+9C>A)
c.622+9C>A (n.622+9C>A)
 gnomAD v4
1g.8326052C=CA1152270740SLC45A1c.715+10C= (n.715+10C=)
c.817+10C= (n.817+10C=)
c.724+10C= (n.724+10C=)
c.109+10C= (n.109+10C=)
c.622+10C= (n.622+10C=)
1g.8326052C>TCA570170SLC45A1c.715+10C>T (n.715+10C>T)
c.817+10C>T (n.817+10C>T)
c.724+10C>T (n.724+10C>T)
c.109+10C>T (n.109+10C>T)
c.622+10C>T (n.622+10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8326053G>ACA570171SLC45A1c.715+11G>A (n.715+11G>A)
c.817+11G>A (n.817+11G>A)
c.724+11G>A (n.724+11G>A)
c.109+11G>A (n.109+11G>A)
c.622+11G>A (n.622+11G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8326053G>CCA2643069227SLC45A1c.715+11G>C (n.715+11G>C)
c.817+11G>C (n.817+11G>C)
c.724+11G>C (n.724+11G>C)
c.109+11G>C (n.109+11G>C)
c.622+11G>C (n.622+11G>C)
 gnomAD v4
1g.8326053G=CA1144105845SLC45A1c.715+11G= (n.715+11G=)
c.817+11G= (n.817+11G=)
c.724+11G= (n.724+11G=)
c.109+11G= (n.109+11G=)
c.622+11G= (n.622+11G=)
1g.8326053G>TCA521020106SLC45A1c.715+11G>T (n.715+11G>T)
c.817+11G>T (n.817+11G>T)
c.724+11G>T (n.724+11G>T)
c.109+11G>T (n.109+11G>T)
c.622+11G>T (n.622+11G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.8326055A=CA1152270746SLC45A1c.715+13A= (n.715+13A=)
c.817+13A= (n.817+13A=)
c.724+13A= (n.724+13A=)
c.109+13A= (n.109+13A=)
c.622+13A= (n.622+13A=)
1g.8326055A>CCA521020108SLC45A1c.715+13A>C (n.715+13A>C)
c.817+13A>C (n.817+13A>C)
c.724+13A>C (n.724+13A>C)
c.109+13A>C (n.109+13A>C)
c.622+13A>C (n.622+13A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.8326055A>GCA570172SLC45A1c.715+13A>G (n.715+13A>G)
c.817+13A>G (n.817+13A>G)
c.724+13A>G (n.724+13A>G)
c.109+13A>G (n.109+13A>G)
c.622+13A>G (n.622+13A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8326056G>TCA2643069228SLC45A1c.715+14G>T (n.715+14G>T)
c.817+14G>T (n.817+14G>T)
c.724+14G>T (n.724+14G>T)
c.109+14G>T (n.109+14G>T)
c.622+14G>T (n.622+14G>T)
 gnomAD v4
1g.8326057C>ACA2643069229SLC45A1c.715+15C>A (n.715+15C>A)
c.817+15C>A (n.817+15C>A)
c.724+15C>A (n.724+15C>A)
c.109+15C>A (n.109+15C>A)
c.622+15C>A (n.622+15C>A)
 gnomAD v4
1g.8326057C=CA1143734316SLC45A1c.715+15C= (n.715+15C=)
c.817+15C= (n.817+15C=)
c.724+15C= (n.724+15C=)
c.109+15C= (n.109+15C=)
c.622+15C= (n.622+15C=)
1g.8326057C>TCA570173SLC45A1c.715+15C>T (n.715+15C>T)
c.817+15C>T (n.817+15C>T)
c.724+15C>T (n.724+15C>T)
c.109+15C>T (n.109+15C>T)
c.622+15C>T (n.622+15C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8326059G>ACA2643069230SLC45A1c.715+17G>A (n.715+17G>A)
c.817+17G>A (n.817+17G>A)
c.724+17G>A (n.724+17G>A)
c.109+17G>A (n.109+17G>A)
c.622+17G>A (n.622+17G>A)
 gnomAD v4
1g.8326061delCA2574198915SLC45A1c.715+19del (n.715+19del)
c.817+19del (n.817+19del)
c.724+19del (n.724+19del)
c.109+19del (n.109+19del)
c.622+19del (n.622+19del)
1g.8326061G>ACA2643069231SLC45A1c.715+19G>A (n.715+19G>A)
c.817+19G>A (n.817+19G>A)
c.724+19G>A (n.724+19G>A)
c.109+19G>A (n.109+19G>A)
c.622+19G>A (n.622+19G>A)
 gnomAD v4
1g.8326062C>ACA2643069232SLC45A1c.715+20C>A (n.715+20C>A)
c.817+20C>A (n.817+20C>A)
c.724+20C>A (n.724+20C>A)
c.109+20C>A (n.109+20C>A)
c.622+20C>A (n.622+20C>A)
 gnomAD v4
1g.8326062C=CA1152270752SLC45A1c.715+20C= (n.715+20C=)
c.817+20C= (n.817+20C=)
c.724+20C= (n.724+20C=)
c.109+20C= (n.109+20C=)
c.622+20C= (n.622+20C=)
1g.8326062C>GCA570174SLC45A1c.715+20C>G (n.715+20C>G)
c.817+20C>G (n.817+20C>G)
c.724+20C>G (n.724+20C>G)
c.109+20C>G (n.109+20C>G)
c.622+20C>G (n.622+20C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.8326063C>ACA2643069233SLC45A1c.715+21C>A (n.715+21C>A)
c.817+21C>A (n.817+21C>A)
c.724+21C>A (n.724+21C>A)
c.109+21C>A (n.109+21C>A)
c.622+21C>A (n.622+21C>A)
 gnomAD v4
1g.8326063C=CA1152270754SLC45A1c.715+21C= (n.715+21C=)
c.817+21C= (n.817+21C=)
c.724+21C= (n.724+21C=)
c.109+21C= (n.109+21C=)
c.622+21C= (n.622+21C=)
1g.8326063C>GCA570175SLC45A1c.715+21C>G (n.715+21C>G)
c.817+21C>G (n.817+21C>G)
c.724+21C>G (n.724+21C>G)
c.109+21C>G (n.109+21C>G)
c.622+21C>G (n.622+21C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.8326063C>TCA521020113SLC45A1c.715+21C>T (n.715+21C>T)
c.817+21C>T (n.817+21C>T)
c.724+21C>T (n.724+21C>T)
c.109+21C>T (n.109+21C>T)
c.622+21C>T (n.622+21C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched