Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.24174695dupCA2578541579DCDC2c.*39dup (n.*39dup)
gnomAD v4
6g.24174693T>CCA2677514142DCDC2c.*37A>G (n.*37A>G)
gnomAD v4
6g.24174694T>CCA2677514143DCDC2c.*36A>G (n.*36A>G)
gnomAD v4
6g.24174695T>CCA2677514144DCDC2c.*35A>G (n.*35A>G)
gnomAD v4
6g.24174696C>ACA2677514145DCDC2c.*34G>T (n.*34G>T)
gnomAD v4
6g.24174696C=CA1616321895DCDC2c.*34G= (n.*34G=)
6g.24174696C>TCA136621781DCDC2c.*34G>A (n.*34G>A)
dbSNP gnomAD v2 gnomAD v4
6g.24174697T>CCA2677514146DCDC2c.*33A>G (n.*33A>G)
gnomAD v4
6g.24174699G>ACA2677514148DCDC2c.*31C>T (n.*31C>T)
gnomAD v4
6g.24174699G>TCA2677514149DCDC2c.*31C>A (n.*31C>A)
gnomAD v4
6g.24174699_24174706delCA2677514147DCDC2c.*24_*31del (n.*24_*31del)
gnomAD v4
6g.24174700C>ACA566220578DCDC2c.*30G>T (n.*30G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.24174700C=CA1616321900DCDC2c.*30G= (n.*30G=)
6g.24174700C>GCA566220579DCDC2c.*30G>C (n.*30G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24174700C>TCA3654420DCDC2c.*30G>A (n.*30G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24174701G>ACA3654421DCDC2c.*29C>T (n.*29C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24174701G>CCA2677514150DCDC2c.*29C>G (n.*29C>G)
gnomAD v4
6g.24174701G=CA1616321903DCDC2c.*29C= (n.*29C=)
6g.24174701G>TCA650738715DCDC2c.*29C>A (n.*29C>A)
gnomAD v4 COSMIC
6g.24174702A>GCA2547999638DCDC2c.*28T>C (n.*28T>C)
6g.24174702A>TCA2529616558DCDC2c.*28T>A (n.*28T>A)
6g.24174703T>ACA2770321633DCDC2c.*27A>T (n.*27A>T)
6g.24174703T>CCA566220582DCDC2c.*27A>G (n.*27A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24174703T=CA1616321907DCDC2c.*27A= (n.*27A=)
6g.24174704C>ACA136621782DCDC2c.*26G>T (n.*26G>T)
dbSNP gnomAD v4
6g.24174704C=CA1616321909DCDC2c.*26G= (n.*26G=)
6g.24174704C>TCA2677514151DCDC2c.*26G>A (n.*26G>A)
gnomAD v4
6g.24174705C>ACA2677514152DCDC2c.*25G>T (n.*25G>T)
gnomAD v4
6g.24174705C>TCA2578541580DCDC2c.*25G>A (n.*25G>A)
gnomAD v4
6g.24174706A>CCA2578541581DCDC2c.*24T>G (n.*24T>G)
gnomAD v4
6g.24174706A>GCA2578541582DCDC2c.*24T>C (n.*24T>C)
6g.24174706A>TCA2677514153DCDC2c.*24T>A (n.*24T>A)
gnomAD v4
6g.24174707T>CCA136621783DCDC2c.*23A>G (n.*23A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24174707T=CA1616321911DCDC2c.*23A= (n.*23A=)
6g.24174708A>CCA2578541583DCDC2c.*22T>G (n.*22T>G)
6g.24174708A>GCA2677514154DCDC2c.*22T>C (n.*22T>C)
gnomAD v4
6g.24174709T>ACA3654423DCDC2c.*21A>T (n.*21A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24174709T>CCA3654422DCDC2c.*21A>G (n.*21A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24174709T=CA1616321915DCDC2c.*21A= (n.*21A=)
6g.24174710A>TCA2677514155DCDC2c.*20T>A (n.*20T>A)
gnomAD v4
6g.24174710_24174712delinsACTCA1616321918DCDC2c.*18_*20delinsAGT (n.*18_*20delinsAGT)
6g.24174711C>ACA2677514156DCDC2c.*19G>T (n.*19G>T)
gnomAD v4
6g.24174711C=CA1616321921DCDC2c.*19G= (n.*19G=)
6g.24174711C>TCA3654425DCDC2c.*19G>A (n.*19G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24174715_24174716delCA3654424DCDC2c.*18_*19del (n.*18_*19del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24174712T>CCA2677514157DCDC2c.*18A>G (n.*18A>G)
gnomAD v4
6g.24174712T>GCA823284364DCDC2c.*18A>C (n.*18A>C)
dbSNP gnomAD v4
6g.24174712T=CA1616321923DCDC2c.*18A= (n.*18A=)
6g.24174713C>TCA2677514158DCDC2c.*17G>A (n.*17G>A)
gnomAD v4
6g.24174714T>CCA1616321927DCDC2c.*16A>G (n.*16A>G)
dbSNP gnomAD v4
6g.24174714T=CA1616321926DCDC2c.*16A= (n.*16A=)
6g.24174716T>CCA3654426DCDC2c.*14A>G (n.*14A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24174716T>GCA823284373DCDC2c.*14A>C (n.*14A>C)
dbSNP gnomAD v4
6g.24174716T=CA1616321929DCDC2c.*14A= (n.*14A=)
6g.24174720delCA2677514159DCDC2c.*14del (n.*14del)
gnomAD v4
6g.24174719_24174720delCA2677514160DCDC2c.*13_*14del (n.*13_*14del)
gnomAD v4
6g.24174718T>CCA3654427DCDC2c.*12A>G (n.*12A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24174718T=CA1616321933DCDC2c.*12A= (n.*12A=)
6g.24174719T>CCA3654428DCDC2c.*11A>G (n.*11A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24174719T>GCA2677514161DCDC2c.*11A>C (n.*11A>C)
gnomAD v4
6g.24174719T=CA1616321935DCDC2c.*11A= (n.*11A=)
6g.24174720T>ACA1616321938DCDC2c.*10A>T (n.*10A>T)
dbSNP
6g.24174720T>CCA2677514162DCDC2c.*10A>G (n.*10A>G)
ClinVar gnomAD v4
6g.24174720T=CA1616321937DCDC2c.*10A= (n.*10A=)
6g.24174721A=CA1616321939DCDC2c.*9T= (n.*9T=)
6g.24174721A>CCA1616321940DCDC2c.*9T>G (n.*9T>G)
dbSNP
6g.24174721A>TCA2677514164DCDC2c.*9T>A (n.*9T>A)
gnomAD v4
6g.24174721_24174725delCA2677514163DCDC2c.*5_*9del (n.*5_*9del)
gnomAD v4
6g.24174724_24174725delCA2677514165DCDC2c.*8_*9del (n.*8_*9del)
gnomAD v4
6g.24174724A=CA1616321942DCDC2c.*6T= (n.*6T=)
6g.24174724A>TCA566220586DCDC2c.*6T>A (n.*6T>A)
dbSNP gnomAD v2
6g.24174725A>GCA2770321637DCDC2c.*5T>C (n.*5T>C)
6g.24174727G>ACA1616321945DCDC2c.*3C>T (n.*3C>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.24174727G>CCA3654429DCDC2c.*3C>G (n.*3C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24174727G=CA1616321943DCDC2c.*3C= (n.*3C=)
6g.24174727G>TCA2581551507DCDC2c.*3C>A (n.*3C>A)
gnomAD v4
6g.24174727_24174728insGATCGCAAGAAAAATCCA2677514166DCDC2c.*2_*3insGATTTTTCTTGCGATC (n.*2_*3insGATTTTTCTTGCGATC)
gnomAD v4
6g.24174728T>CCA650738716DCDC2c.*2A>G (n.*2A>G)
gnomAD v4 COSMIC COSMIC
6g.24174728T>GCA1616321947DCDC2c.*2A>C (n.*2A>C)
dbSNP
6g.24174728T=CA1616321946DCDC2c.*2A= (n.*2A=)
6g.24174729T>CCA2677514167DCDC2c.*1A>G (n.*1A>G)
gnomAD v4
6g.24174730C>ACA363278511DCDC2c.1431G>T (p.Ter477Tyr)
c.690G>T (p.Ter230Tyr)
gnomAD v4
6g.24174730C>GCA363278512DCDC2c.1431G>C (p.Ter477Tyr)
c.690G>C (p.Ter230Tyr)
6g.24174730C>TCA448951254DCDC2c.1431G>A (p.Ter477=)
c.690G>A (p.Ter230=)
gnomAD v4
6g.24174731T>ACA363278513DCDC2c.1430A>T (p.Ter477Leu)
c.689A>T (p.Ter230Leu)
6g.24174731T>CCA363278514DCDC2c.1430A>G (p.Ter477Trp)
c.689A>G (p.Ter230Trp)
gnomAD v4
6g.24174731T>GCA363278515DCDC2c.1430A>C (p.Ter477Ser)
c.689A>C (p.Ter230Ser)
gnomAD v4
6g.24174732A=CA1616321949DCDC2c.1429T= (p.Ter477=)
c.688T= (p.Ter230=)
6g.24174732A>CCA363278516DCDC2c.1429T>G (p.Ter477Glu)
c.688T>G (p.Ter230Glu)
6g.24174732A>GCA136621784DCDC2c.1429T>C (p.Ter477Gln)
c.688T>C (p.Ter230Gln)
dbSNP
6g.24174732A>TCA363278517DCDC2c.1429T>A (p.Ter477Lys)
c.688T>A (p.Ter230Lys)
gnomAD v4
6g.24174733delCA2677514168DCDC2c.1429del (p.Ter477ArgextTer?)
c.688del (p.Ter230ArgextTer?)
gnomAD v4
6g.24174733A>CCA448951255DCDC2c.1428T>G (p.Ala476=)
c.687T>G (p.Ala229=)
6g.24174733A>GCA448951256DCDC2c.1428T>C (p.Ala476=)
c.687T>C (p.Ala229=)
gnomAD v4
6g.24174733A>TCA448951257DCDC2c.1428T>A (p.Ala476=)
c.687T>A (p.Ala229=)
6g.24174734G>ACA136621785DCDC2c.1427C>T (p.Ala476Val)
c.686C>T (p.Ala229Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24174734G>CCA363278518DCDC2c.1427C>G (p.Ala476Gly)
c.686C>G (p.Ala229Gly)
6g.24174734G=CA1616321951DCDC2c.1427C= (p.Ala476=)
c.686C= (p.Ala229=)
6g.24174734G>TCA363278519DCDC2c.1427C>A (p.Ala476Asp)
c.686C>A (p.Ala229Asp)
gnomAD v4
6g.24174735C>ACA363278522DCDC2c.1426G>T (p.Ala476Ser)
c.685G>T (p.Ala229Ser)
6g.24174735C>GCA363278521DCDC2c.1426G>C (p.Ala476Pro)
c.685G>C (p.Ala229Pro)
6g.24174735C>TCA363278520DCDC2c.1426G>A (p.Ala476Thr)
c.685G>A (p.Ala229Thr)
gnomAD v4
6g.24174736C>ACA448951258DCDC2c.1425G>T (p.Val475=)
c.684G>T (p.Val228=)
COSMIC COSMIC
6g.24174736C=CA1616321955DCDC2c.1425G= (p.Val475=)
c.684G= (p.Val228=)
6g.24174736C>GCA448951259DCDC2c.1425G>C (p.Val475=)
c.684G>C (p.Val228=)
6g.24174736C>TCA448951260DCDC2c.1425G>A (p.Val475=)
c.684G>A (p.Val228=)
dbSNP gnomAD v4
6g.24174737A>CCA363278523DCDC2c.1424T>G (p.Val475Gly)
c.683T>G (p.Val228Gly)
6g.24174737A>GCA363278524DCDC2c.1424T>C (p.Val475Ala)
c.683T>C (p.Val228Ala)
gnomAD v4
6g.24174737A>TCA363278525DCDC2c.1424T>A (p.Val475Glu)
c.683T>A (p.Val228Glu)
6g.24174738C>ACA363278526DCDC2c.1423G>T (p.Val475Leu)
c.682G>T (p.Val228Leu)
dbSNP gnomAD v4
6g.24174738C=CA1616321961DCDC2c.1423G= (p.Val475=)
c.682G= (p.Val228=)
6g.24174738C>GCA363278527DCDC2c.1423G>C (p.Val475Leu)
c.682G>C (p.Val228Leu)
6g.24174738C>TCA3654430DCDC2c.1423G>A (p.Val475Met)
c.682G>A (p.Val228Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24174739G>ACA3654431DCDC2c.1422C>T (p.Ala474=)
c.681C>T (p.Ala227=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24174739G>CCA448951261DCDC2c.1422C>G (p.Ala474=)
c.681C>G (p.Ala227=)
6g.24174739G=CA1616321963DCDC2c.1422C= (p.Ala474=)
c.681C= (p.Ala227=)
6g.24174739G>TCA448951262DCDC2c.1422C>A (p.Ala474=)
c.681C>A (p.Ala227=)
gnomAD v4 COSMIC COSMIC
6g.24174740G>ACA363278528DCDC2c.1421C>T (p.Ala474Val)
c.680C>T (p.Ala227Val)
gnomAD v4
6g.24174740G>CCA363278529DCDC2c.1421C>G (p.Ala474Gly)
c.680C>G (p.Ala227Gly)
gnomAD v4
6g.24174740G>TCA363278530DCDC2c.1421C>A (p.Ala474Asp)
c.680C>A (p.Ala227Asp)
gnomAD v4
6g.24174741C>ACA363278531DCDC2c.1420G>T (p.Ala474Ser)
c.679G>T (p.Ala227Ser)
dbSNP
6g.24174741C=CA1616321967DCDC2c.1420G= (p.Ala474=)
c.679G= (p.Ala227=)
6g.24174741C>GCA363278532DCDC2c.1420G>C (p.Ala474Pro)
c.679G>C (p.Ala227Pro)
6g.24174741C>TCA363278533DCDC2c.1420G>A (p.Ala474Thr)
c.679G>A (p.Ala227Thr)
gnomAD v4 COSMIC
6g.24174742delCA2770321643DCDC2c.1419del (p.Ala474ProfsTer?)
c.678del (p.Ala227ProfsTer?)
6g.24174742A>CCA448951265DCDC2c.1419T>G (p.Ala473=)
c.678T>G (p.Ala226=)
6g.24174742A>GCA448951264DCDC2c.1419T>C (p.Ala473=)
c.678T>C (p.Ala226=)
6g.24174742A>TCA448951263DCDC2c.1419T>A (p.Ala473=)
c.678T>A (p.Ala226=)
6g.24174743G>ACA363278535DCDC2c.1418C>T (p.Ala473Val)
c.677C>T (p.Ala226Val)
6g.24174743G>CCA363278536DCDC2c.1418C>G (p.Ala473Gly)
c.677C>G (p.Ala226Gly)
6g.24174743G=CA1616321969DCDC2c.1418C= (p.Ala473=)
c.677C= (p.Ala226=)
6g.24174743G>TCA363278534DCDC2c.1418C>A (p.Ala473Asp)
c.677C>A (p.Ala226Asp)
dbSNP gnomAD v3 gnomAD v4
6g.24174744C>ACA363278539DCDC2c.1417G>T (p.Ala473Ser)
c.676G>T (p.Ala226Ser)
gnomAD v4
6g.24174744C=CA1616321971DCDC2c.1417G= (p.Ala473=)
c.676G= (p.Ala226=)
6g.24174744C>GCA363278537DCDC2c.1417G>C (p.Ala473Pro)
c.676G>C (p.Ala226Pro)
6g.24174744C>TCA363278538DCDC2c.1417G>A (p.Ala473Thr)
c.676G>A (p.Ala226Thr)
dbSNP gnomAD v4
6g.24174744_24174746delinsCATCA1616321972DCDC2c.1415_1417delinsATG (p.Tyr472=)
c.674_676delinsATG (p.Tyr225=)
6g.24174745A>CCA363278540DCDC2c.1416T>G (p.Tyr472Ter)
c.675T>G (p.Tyr225Ter)
6g.24174745A>GCA448951266DCDC2c.1416T>C (p.Tyr472=)
c.675T>C (p.Tyr225=)
6g.24174745A>TCA363278541DCDC2c.1416T>A (p.Tyr472Ter)
c.675T>A (p.Tyr225Ter)
6g.24174746_24174747delCA1616321974DCDC2c.1415_1416del (p.Tyr472CysfsTer9)
c.674_675del (p.Tyr225CysfsTer9)
dbSNP
6g.24174746T>ACA363278542DCDC2c.1415A>T (p.Tyr472Phe)
c.674A>T (p.Tyr225Phe)
gnomAD v4
6g.24174746T>CCA363278543DCDC2c.1415A>G (p.Tyr472Cys)
c.674A>G (p.Tyr225Cys)
dbSNP gnomAD v2 gnomAD v4
6g.24174746T>GCA363278544DCDC2c.1415A>C (p.Tyr472Ser)
c.674A>C (p.Tyr225Ser)
6g.24174746T=CA1616321975DCDC2c.1415A= (p.Tyr472=)
c.674A= (p.Tyr225=)
6g.24174747_24174753delCA2677514169DCDC2c.1409_1415del (p.Lys470MetfsTer?)
c.668_674del (p.Lys223MetfsTer?)
gnomAD v4
6g.24174747A>CCA363278545DCDC2c.1414T>G (p.Tyr472Asp)
c.673T>G (p.Tyr225Asp)
6g.24174747A>GCA363278546DCDC2c.1414T>C (p.Tyr472His)
c.673T>C (p.Tyr225His)
6g.24174747A>TCA363278547DCDC2c.1414T>A (p.Tyr472Asn)
c.673T>A (p.Tyr225Asn)
6g.24174748G>ACA448951267DCDC2c.1413C>T (p.Asp471=)
c.672C>T (p.Asp224=)
gnomAD v4
6g.24174748G>CCA363278548DCDC2c.1413C>G (p.Asp471Glu)
c.672C>G (p.Asp224Glu)
6g.24174748G>TCA363278549DCDC2c.1413C>A (p.Asp471Glu)
c.672C>A (p.Asp224Glu)
6g.24174749T>ACA136621786DCDC2c.1412A>T (p.Asp471Val)
c.671A>T (p.Asp224Val)
dbSNP gnomAD v2 gnomAD v4
6g.24174749T>CCA363278551DCDC2c.1412A>G (p.Asp471Gly)
c.671A>G (p.Asp224Gly)
6g.24174749T>GCA363278550DCDC2c.1412A>C (p.Asp471Ala)
c.671A>C (p.Asp224Ala)
6g.24174749T=CA1616321976DCDC2c.1412A= (p.Asp471=)
c.671A= (p.Asp224=)
6g.24174749_24174750delinsTCCA1616321977DCDC2c.1411_1412delinsGA (p.Asp471=)
c.670_671delinsGA (p.Asp224=)
6g.24174750C>ACA363278552DCDC2c.1411G>T (p.Asp471Tyr)
c.670G>T (p.Asp224Tyr)
6g.24174750C>GCA363278553DCDC2c.1411G>C (p.Asp471His)
c.670G>C (p.Asp224His)
6g.24174750C>TCA363278554DCDC2c.1411G>A (p.Asp471Asn)
c.670G>A (p.Asp224Asn)
dbSNP
6g.24174751delCA823284446DCDC2c.1411del (p.Asp471ThrfsTer?)
c.670del (p.Asp224ThrfsTer?)
dbSNP gnomAD v3 gnomAD v4
6g.24174751C>ACA363278555DCDC2c.1410G>T (p.Lys470Asn)
c.669G>T (p.Lys223Asn)
6g.24174751C=CA1616321981DCDC2c.1410G= (p.Lys470=)
c.669G= (p.Lys223=)
6g.24174751C>GCA363278556DCDC2c.1410G>C (p.Lys470Asn)
c.669G>C (p.Lys223Asn)
6g.24174751C>TCA448951268DCDC2c.1410G>A (p.Lys470=)
c.669G>A (p.Lys223=)
dbSNP
6g.24174752T>ACA363278559DCDC2c.1409A>T (p.Lys470Met)
c.668A>T (p.Lys223Met)
6g.24174752T>CCA363278557DCDC2c.1409A>G (p.Lys470Arg)
c.668A>G (p.Lys223Arg)
6g.24174752T>GCA363278558DCDC2c.1409A>C (p.Lys470Thr)
c.668A>C (p.Lys223Thr)
gnomAD v4
6g.24174753T>ACA363278560DCDC2c.1408A>T (p.Lys470Ter)
c.667A>T (p.Lys223Ter)
6g.24174753T>CCA363278561DCDC2c.1408A>G (p.Lys470Glu)
c.667A>G (p.Lys223Glu)
6g.24174753T>GCA363278562DCDC2c.1408A>C (p.Lys470Gln)
c.667A>C (p.Lys223Gln)
6g.24174754G>ACA448951269DCDC2c.1407C>T (p.Asn469=)
c.666C>T (p.Asn222=)
gnomAD v4
6g.24174754G>CCA363278563DCDC2c.1407C>G (p.Asn469Lys)
c.666C>G (p.Asn222Lys)
6g.24174754G>TCA363278564DCDC2c.1407C>A (p.Asn469Lys)
c.666C>A (p.Asn222Lys)
6g.24174755T>ACA363278567DCDC2c.1406A>T (p.Asn469Ile)
c.665A>T (p.Asn222Ile)
6g.24174755T>CCA363278566DCDC2c.1406A>G (p.Asn469Ser)
c.665A>G (p.Asn222Ser)
6g.24174755T>GCA363278565DCDC2c.1406A>C (p.Asn469Thr)
c.665A>C (p.Asn222Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24174755T=CA1616321985DCDC2c.1406A= (p.Asn469=)
c.665A= (p.Asn222=)
6g.24174756T>ACA363278568DCDC2c.1405A>T (p.Asn469Tyr)
c.664A>T (p.Asn222Tyr)
6g.24174756T>CCA363278569DCDC2c.1405A>G (p.Asn469Asp)
c.664A>G (p.Asn222Asp)
6g.24174756T>GCA136621787DCDC2c.1405A>C (p.Asn469His)
c.664A>C (p.Asn222His)
dbSNP gnomAD v2 gnomAD v4
6g.24174756T=CA1616321986DCDC2c.1405A= (p.Asn469=)
c.664A= (p.Asn222=)
6g.24174757T>ACA363278570DCDC2c.1404A>T (p.Gln468His)
c.663A>T (p.Gln221His)
6g.24174757T>CCA448951270DCDC2c.1404A>G (p.Gln468=)
c.663A>G (p.Gln221=)
6g.24174757T>GCA363278571DCDC2c.1404A>C (p.Gln468His)
c.663A>C (p.Gln221His)
6g.24174758T>ACA363278572DCDC2c.1403A>T (p.Gln468Leu)
c.662A>T (p.Gln221Leu)
6g.24174758T>CCA363278573DCDC2c.1403A>G (p.Gln468Arg)
c.662A>G (p.Gln221Arg)
gnomAD v4
6g.24174758T>GCA363278574DCDC2c.1403A>C (p.Gln468Pro)
c.662A>C (p.Gln221Pro)
6g.24174759delCA2677514170DCDC2c.1402del (p.Gln468LysfsTer?)
c.661del (p.Gln221LysfsTer?)
gnomAD v4
6g.24174759G>ACA363278575DCDC2c.1402C>T (p.Gln468Ter)
c.661C>T (p.Gln221Ter)
6g.24174759G>CCA363278576DCDC2c.1402C>G (p.Gln468Glu)
c.661C>G (p.Gln221Glu)
6g.24174759G=CA1616321988DCDC2c.1402C= (p.Gln468=)
c.661C= (p.Gln221=)
6g.24174759G>TCA363278577DCDC2c.1402C>A (p.Gln468Lys)
c.661C>A (p.Gln221Lys)
dbSNP gnomAD v2 gnomAD v4
6g.24174760T>ACA363278578DCDC2c.1401A>T (p.Gln467His)
c.660A>T (p.Gln220His)
gnomAD v4
6g.24174760T>CCA448951271DCDC2c.1401A>G (p.Gln467=)
c.660A>G (p.Gln220=)
dbSNP
6g.24174760T>GCA363278579DCDC2c.1401A>C (p.Gln467His)
c.660A>C (p.Gln220His)
6g.24174761T>ACA363278582DCDC2c.1400A>T (p.Gln467Leu)
c.659A>T (p.Gln220Leu)
6g.24174761T>CCA363278580DCDC2c.1400A>G (p.Gln467Arg)
c.659A>G (p.Gln220Arg)
dbSNP gnomAD v3 gnomAD v4
6g.24174761T>GCA363278581DCDC2c.1400A>C (p.Gln467Pro)
c.659A>C (p.Gln220Pro)
6g.24174761T=CA1616321991DCDC2c.1400A= (p.Gln467=)
c.659A= (p.Gln220=)
6g.24174762G>ACA363278583DCDC2c.1399C>T (p.Gln467Ter)
c.658C>T (p.Gln220Ter)
gnomAD v4
6g.24174762G>CCA363278584DCDC2c.1399C>G (p.Gln467Glu)
c.658C>G (p.Gln220Glu)
6g.24174762G>TCA363278585DCDC2c.1399C>A (p.Gln467Lys)
c.658C>A (p.Gln220Lys)
gnomAD v4 COSMIC
6g.24174763delCA2677514171DCDC2c.1399del (p.Gln467AsnfsTer?)
c.658del (p.Gln220AsnfsTer?)
gnomAD v4
6g.24174762_24174765delinsGGTTCA1616321993DCDC2c.1396_1399delinsAACC (p.Asn466=)
c.655_658delinsAACC (p.Asn219=)
6g.24174763G>ACA448951272DCDC2c.1398C>T (p.Asn466=)
c.657C>T (p.Asn219=)
6g.24174763G>CCA363278586DCDC2c.1398C>G (p.Asn466Lys)
c.657C>G (p.Asn219Lys)
6g.24174763G>TCA363278587DCDC2c.1398C>A (p.Asn466Lys)
c.657C>A (p.Asn219Lys)
6g.24174766_24174768delCA1616321995DCDC2c.1396_1398del (p.Asn466del)
c.655_657del (p.Asn219del)
dbSNP
6g.24174764T>ACA363278588DCDC2c.1397A>T (p.Asn466Ile)
c.656A>T (p.Asn219Ile)
6g.24174764T>CCA363278589DCDC2c.1397A>G (p.Asn466Ser)
c.656A>G (p.Asn219Ser)
6g.24174764T>GCA363278590DCDC2c.1397A>C (p.Asn466Thr)
c.656A>C (p.Asn219Thr)
6g.24174765T>ACA363278591DCDC2c.1396A>T (p.Asn466Tyr)
c.655A>T (p.Asn219Tyr)
6g.24174765T>CCA3654432DCDC2c.1396A>G (p.Asn466Asp)
c.655A>G (p.Asn219Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24174765T>GCA363278592DCDC2c.1396A>C (p.Asn466His)
c.655A>C (p.Asn219His)
6g.24174765T=CA1616321997DCDC2c.1396A= (p.Asn466=)
c.655A= (p.Asn219=)
6g.24174766G>ACA448951273DCDC2c.1395C>T (p.Asn465=)
c.654C>T (p.Asn218=)
6g.24174766G>CCA363278593DCDC2c.1395C>G (p.Asn465Lys)
c.654C>G (p.Asn218Lys)
gnomAD v4
6g.24174766G>TCA363278594DCDC2c.1395C>A (p.Asn465Lys)
c.654C>A (p.Asn218Lys)
COSMIC COSMIC
6g.24174767T>ACA363278596DCDC2c.1394A>T (p.Asn465Ile)
c.653A>T (p.Asn218Ile)
6g.24174767T>CCA363278597DCDC2c.1394A>G (p.Asn465Ser)
c.653A>G (p.Asn218Ser)
dbSNP gnomAD v2 gnomAD v4
6g.24174767T>GCA363278595DCDC2c.1394A>C (p.Asn465Thr)
c.653A>C (p.Asn218Thr)
6g.24174767T=CA1616321998DCDC2c.1394A= (p.Asn465=)
c.653A= (p.Asn218=)
6g.24174768T>ACA363278599DCDC2c.1393A>T (p.Asn465Tyr)
c.652A>T (p.Asn218Tyr)
6g.24174768T>CCA363278598DCDC2c.1393A>G (p.Asn465Asp)
c.652A>G (p.Asn218Asp)
6g.24174768T>GCA363278600DCDC2c.1393A>C (p.Asn465His)
c.652A>C (p.Asn218His)
6g.24174768_24174771delinsTTTCCA1616322003DCDC2c.1390_1393delinsGAAA (p.Glu464=)
c.649_652delinsGAAA (p.Glu217=)
6g.24174769T>ACA363278601DCDC2c.1392A>T (p.Glu464Asp)
c.651A>T (p.Glu217Asp)
6g.24174769T>CCA448951274DCDC2c.1392A>G (p.Glu464=)
c.651A>G (p.Glu217=)
6g.24174769T>GCA363278602DCDC2c.1392A>C (p.Glu464Asp)
c.651A>C (p.Glu217Asp)
6g.24174769_24174771delCA1616322004DCDC2c.1390_1392del (p.Glu464del)
c.649_651del (p.Glu217del)
dbSNP
6g.24174770T>ACA363278603DCDC2c.1391A>T (p.Glu464Val)
c.650A>T (p.Glu217Val)
6g.24174770T>CCA363278604DCDC2c.1391A>G (p.Glu464Gly)
c.650A>G (p.Glu217Gly)
6g.24174770T>GCA363278605DCDC2c.1391A>C (p.Glu464Ala)
c.650A>C (p.Glu217Ala)
6g.24174771C>ACA363278606DCDC2c.1390G>T (p.Glu464Ter)
c.649G>T (p.Glu217Ter)
6g.24174771C=CA1616322009DCDC2c.1390G= (p.Glu464=)
c.649G= (p.Glu217=)
6g.24174771C>GCA363278607DCDC2c.1390G>C (p.Glu464Gln)
c.649G>C (p.Glu217Gln)
6g.24174771C>TCA363278608DCDC2c.1390G>A (p.Glu464Lys)
c.649G>A (p.Glu217Lys)
ClinVar dbSNP COSMIC COSMIC
6g.24174772A>CCA363278609DCDC2c.1389T>G (p.Asn463Lys)
c.648T>G (p.Asn216Lys)
6g.24174772A>GCA448951275DCDC2c.1389T>C (p.Asn463=)
c.648T>C (p.Asn216=)
gnomAD v4
6g.24174772A>TCA363278610DCDC2c.1389T>A (p.Asn463Lys)
c.648T>A (p.Asn216Lys)
6g.24174773T>ACA363278611DCDC2c.1388A>T (p.Asn463Ile)
c.647A>T (p.Asn216Ile)
6g.24174773T>CCA363278612DCDC2c.1388A>G (p.Asn463Ser)
c.647A>G (p.Asn216Ser)
6g.24174773T>GCA363278613DCDC2c.1388A>C (p.Asn463Thr)
c.647A>C (p.Asn216Thr)
dbSNP
6g.24174773T=CA1616322011DCDC2c.1388A= (p.Asn463=)
c.647A= (p.Asn216=)
6g.24174774T>ACA363278614DCDC2c.1387A>T (p.Asn463Tyr)
c.646A>T (p.Asn216Tyr)
6g.24174774T>CCA363278616DCDC2c.1387A>G (p.Asn463Asp)
c.646A>G (p.Asn216Asp)
6g.24174774T>GCA363278615DCDC2c.1387A>C (p.Asn463His)
c.646A>C (p.Asn216His)
6g.24174775T>ACA363278617DCDC2c.1386A>T (p.Glu462Asp)
c.645A>T (p.Glu215Asp)
6g.24174775T>CCA448951276DCDC2c.1386A>G (p.Glu462=)
c.645A>G (p.Glu215=)
6g.24174775T>GCA363278618DCDC2c.1386A>C (p.Glu462Asp)
c.645A>C (p.Glu215Asp)
6g.24174776T>ACA363278619DCDC2c.1385A>T (p.Glu462Val)
c.644A>T (p.Glu215Val)
6g.24174776T>CCA363278620DCDC2c.1385A>G (p.Glu462Gly)
c.644A>G (p.Glu215Gly)
dbSNP gnomAD v4
6g.24174776T>GCA363278621DCDC2c.1385A>C (p.Glu462Ala)
c.644A>C (p.Glu215Ala)
6g.24174776T=CA1616322013DCDC2c.1385A= (p.Glu462=)
c.644A= (p.Glu215=)
6g.24174777C>ACA363278622DCDC2c.1384G>T (p.Glu462Ter)
c.643G>T (p.Glu215Ter)
gnomAD v4
6g.24174777C>GCA363278623DCDC2c.1384G>C (p.Glu462Gln)
c.643G>C (p.Glu215Gln)
6g.24174777C>TCA363278624DCDC2c.1384G>A (p.Glu462Lys)
c.643G>A (p.Glu215Lys)
COSMIC COSMIC
6g.24174778T>ACA363278625DCDC2c.1383A>T (p.Glu461Asp)
c.642A>T (p.Glu214Asp)
6g.24174778T>CCA448951277DCDC2c.1383A>G (p.Glu461=)
c.642A>G (p.Glu214=)
gnomAD v4
6g.24174778T>GCA363278626DCDC2c.1383A>C (p.Glu461Asp)
c.642A>C (p.Glu214Asp)
6g.24174779T>ACA363278628DCDC2c.1382A>T (p.Glu461Val)
c.641A>T (p.Glu214Val)
6g.24174779T>CCA363278629DCDC2c.1382A>G (p.Glu461Gly)
c.641A>G (p.Glu214Gly)
6g.24174779T>GCA363278627DCDC2c.1382A>C (p.Glu461Ala)
c.641A>C (p.Glu214Ala)
6g.24174780C>ACA136621788DCDC2c.1381G>T (p.Glu461Ter)
c.640G>T (p.Glu214Ter)
dbSNP
6g.24174780C=CA1616322015DCDC2c.1381G= (p.Glu461=)
c.640G= (p.Glu214=)
6g.24174780C>GCA363278630DCDC2c.1381G>C (p.Glu461Gln)
c.640G>C (p.Glu214Gln)
6g.24174780C>TCA363278631DCDC2c.1381G>A (p.Glu461Lys)
c.640G>A (p.Glu214Lys)
6g.24174781T>ACA448951278DCDC2c.1380A>T (p.Pro460=)
c.639A>T (p.Pro213=)
6g.24174781T>CCA448951279DCDC2c.1380A>G (p.Pro460=)
c.639A>G (p.Pro213=)
gnomAD v4
6g.24174781T>GCA448951280DCDC2c.1380A>C (p.Pro460=)
c.639A>C (p.Pro213=)
6g.24174782G>ACA363278632DCDC2c.1379C>T (p.Pro460Leu)
c.638C>T (p.Pro213Leu)
6g.24174782G>CCA363278633DCDC2c.1379C>G (p.Pro460Arg)
c.638C>G (p.Pro213Arg)
6g.24174782G>TCA363278634DCDC2c.1379C>A (p.Pro460Gln)
c.638C>A (p.Pro213Gln)
6g.24174783G>ACA363278637DCDC2c.1378C>T (p.Pro460Ser)
c.637C>T (p.Pro213Ser)
ClinVar dbSNP gnomAD v4
6g.24174783G>CCA363278635DCDC2c.1378C>G (p.Pro460Ala)
c.637C>G (p.Pro213Ala)
dbSNP gnomAD v2 gnomAD v4
6g.24174783G=CA1616322017DCDC2c.1378C= (p.Pro460=)
c.637C= (p.Pro213=)
6g.24174783G>TCA363278636DCDC2c.1378C>A (p.Pro460Thr)
c.637C>A (p.Pro213Thr)
6g.24174784A>CCA363278638DCDC2c.1377T>G (p.Ser459Arg)
c.636T>G (p.Ser212Arg)
gnomAD v4
6g.24174784A>GCA448951281DCDC2c.1377T>C (p.Ser459=)
c.636T>C (p.Ser212=)
6g.24174784A>TCA363278639DCDC2c.1377T>A (p.Ser459Arg)
c.636T>A (p.Ser212Arg)
6g.24174785C>ACA363278640DCDC2c.1376G>T (p.Ser459Ile)
c.635G>T (p.Ser212Ile)
6g.24174785C=CA1616322021DCDC2c.1376G= (p.Ser459=)
c.635G= (p.Ser212=)
6g.24174785C>GCA363278641DCDC2c.1376G>C (p.Ser459Thr)
c.635G>C (p.Ser212Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.24174785C>TCA363278642DCDC2c.1376G>A (p.Ser459Asn)
c.635G>A (p.Ser212Asn)
6g.24174786T>ACA363278643DCDC2c.1375A>T (p.Ser459Cys)
c.634A>T (p.Ser212Cys)
6g.24174786T>CCA363278645DCDC2c.1375A>G (p.Ser459Gly)
c.634A>G (p.Ser212Gly)
6g.24174786T>GCA363278644DCDC2c.1375A>C (p.Ser459Arg)
c.634A>C (p.Ser212Arg)
6g.24174787G>ACA448951282DCDC2c.1374C>T (p.Thr458=)
c.633C>T (p.Thr211=)
gnomAD v4
6g.24174787G>CCA448951283DCDC2c.1374C>G (p.Thr458=)
c.633C>G (p.Thr211=)
6g.24174787G>TCA448951284DCDC2c.1374C>A (p.Thr458=)
c.633C>A (p.Thr211=)
6g.24174788G>ACA363278646DCDC2c.1373C>T (p.Thr458Ile)
c.632C>T (p.Thr211Ile)
gnomAD v4
6g.24174788G>CCA363278647DCDC2c.1373C>G (p.Thr458Ser)
c.632C>G (p.Thr211Ser)
gnomAD v4
6g.24174788G>TCA363278648DCDC2c.1373C>A (p.Thr458Asn)
c.632C>A (p.Thr211Asn)
6g.24174789T>ACA363278649DCDC2c.1372A>T (p.Thr458Ser)
c.631A>T (p.Thr211Ser)
6g.24174789T>CCA363278650DCDC2c.1372A>G (p.Thr458Ala)
c.631A>G (p.Thr211Ala)
6g.24174789T>GCA363278651DCDC2c.1372A>C (p.Thr458Pro)
c.631A>C (p.Thr211Pro)
6g.24174790_24174795dupCA2677514172DCDC2c.1367_1372dup (p.Ile457_Thr458insLysIle)
c.626_631dup (p.Ile210_Thr211insLysIle)
gnomAD v4
6g.24174790A=CA1616322023DCDC2c.1371T= (p.Ile457=)
c.630T= (p.Ile210=)
6g.24174790A>CCA3654433DCDC2c.1371T>G (p.Ile457Met)
c.630T>G (p.Ile210Met)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.24174790A>GCA448951285DCDC2c.1371T>C (p.Ile457=)
c.630T>C (p.Ile210=)
6g.24174790A>TCA448951286DCDC2c.1371T>A (p.Ile457=)
c.630T>A (p.Ile210=)
6g.24174791dupCA2740727504DCDC2c.1371dup (p.Thr458TyrfsTer7)
c.630dup (p.Thr211TyrfsTer7)
6g.24174791A>CCA363278652DCDC2c.1370T>G (p.Ile457Ser)
c.629T>G (p.Ile210Ser)
6g.24174791A>GCA363278653DCDC2c.1370T>C (p.Ile457Thr)
c.629T>C (p.Ile210Thr)
6g.24174791A>TCA363278654DCDC2c.1370T>A (p.Ile457Asn)
c.629T>A (p.Ile210Asn)
6g.24174791_24174793delCA2677514173DCDC2c.1368_1370del (p.Lys456_Ile457delinsAsn)
c.627_629del (p.Lys209_Ile210delinsAsn)
gnomAD v4
6g.24174792T>ACA363278655DCDC2c.1369A>T (p.Ile457Phe)
c.628A>T (p.Ile210Phe)
6g.24174792T>CCA363278656DCDC2c.1369A>G (p.Ile457Val)
c.628A>G (p.Ile210Val)
6g.24174792T>GCA363278657DCDC2c.1369A>C (p.Ile457Leu)
c.628A>C (p.Ile210Leu)
6g.24174793T>ACA3654434DCDC2c.1368A>T (p.Lys456Asn)
c.627A>T (p.Lys209Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.24174793T>CCA448951287DCDC2c.1368A>G (p.Lys456=)
c.627A>G (p.Lys209=)
6g.24174793T>GCA363278658DCDC2c.1368A>C (p.Lys456Asn)
c.627A>C (p.Lys209Asn)
6g.24174793T=CA1616322026DCDC2c.1368A= (p.Lys456=)
c.627A= (p.Lys209=)

Number of alleles fetched