Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.41474466G>ACA412992081NYXc.998G>A (p.Trp333Ter)
c.1013G>A (p.Trp338Ter)
Xg.41474466G>CCA412992082NYXc.998G>C (p.Trp333Ser)
c.1013G>C (p.Trp338Ser)
Xg.41474466G>TCA412992083NYXc.998G>T (p.Trp333Leu)
c.1013G>T (p.Trp338Leu)
Xg.41474467G>ACA412992084NYXc.999G>A (p.Trp333Ter)
c.1014G>A (p.Trp338Ter)
Xg.41474467G>CCA412992085NYXc.999G>C (p.Trp333Cys)
c.1014G>C (p.Trp338Cys)
Xg.41474467G>TCA412992086NYXc.999G>T (p.Trp333Cys)
c.1014G>T (p.Trp338Cys)
Xg.41474468T>ACA412992088NYXc.1000T>A (p.Cys334Ser)
c.1015T>A (p.Cys339Ser)
Xg.41474468T>CCA412992089NYXc.1000T>C (p.Cys334Arg)
c.1015T>C (p.Cys339Arg)
Xg.41474468T>GCA412992087NYXc.1000T>G (p.Cys334Gly)
c.1015T>G (p.Cys339Gly)
Xg.41474469G>ACA412992090NYXc.1001G>A (p.Cys334Tyr)
c.1016G>A (p.Cys339Tyr)
 gnomAD v4
Xg.41474469G>CCA412992091NYXc.1001G>C (p.Cys334Ser)
c.1016G>C (p.Cys339Ser)
Xg.41474469G>TCA412992092NYXc.1001G>T (p.Cys334Phe)
c.1016G>T (p.Cys339Phe)
 gnomAD v4
Xg.41474470C>ACA412992093NYXc.1002C>A (p.Cys334Ter)
c.1017C>A (p.Cys339Ter)
Xg.41474470C=CA2425928083NYXc.1002C= (p.Cys334=)
c.1017C= (p.Cys339=)
Xg.41474470C>GCA412992094NYXc.1002C>G (p.Cys334Trp)
c.1017C>G (p.Cys339Trp)
 COSMIC
Xg.41474470C>TCA516366204NYXc.1002C>T (p.Cys334=)
c.1017C>T (p.Cys339=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474471T>ACA412992097NYXc.1003T>A (p.Cys335Ser)
c.1018T>A (p.Cys340Ser)
Xg.41474471T>CCA412992095NYXc.1003T>C (p.Cys335Arg)
c.1018T>C (p.Cys340Arg)
 ClinVar
Xg.41474471T>GCA412992096NYXc.1003T>G (p.Cys335Gly)
c.1018T>G (p.Cys340Gly)
 ClinVar dbSNP
Xg.41474471T=CA2425928084NYXc.1003T= (p.Cys335=)
c.1018T= (p.Cys340=)
Xg.41474472G>ACA412992098NYXc.1004G>A (p.Cys335Tyr)
c.1019G>A (p.Cys340Tyr)
Xg.41474472G>CCA412992099NYXc.1004G>C (p.Cys335Ser)
c.1019G>C (p.Cys340Ser)
Xg.41474472G>TCA412992100NYXc.1004G>T (p.Cys335Phe)
c.1019G>T (p.Cys340Phe)
Xg.41474473C>ACA412992101NYXc.1005C>A (p.Cys335Ter)
c.1020C>A (p.Cys340Ter)
Xg.41474473C=CA2425928085NYXc.1005C= (p.Cys335=)
c.1020C= (p.Cys340=)
Xg.41474473C>GCA412992102NYXc.1005C>G (p.Cys335Trp)
c.1020C>G (p.Cys340Trp)
Xg.41474473C>TCA516366223NYXc.1005C>T (p.Cys335=)
c.1020C>T (p.Cys340=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474474G>ACA10389894NYXc.1006G>A (p.Asp336Asn)
c.1021G>A (p.Asp341Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474474G>CCA412992104NYXc.1006G>C (p.Asp336His)
c.1021G>C (p.Asp341His)
 gnomAD v4
Xg.41474474G=CA2425928086NYXc.1006G= (p.Asp336=)
c.1021G= (p.Asp341=)
Xg.41474474G>TCA412992103NYXc.1006G>T (p.Asp336Tyr)
c.1021G>T (p.Asp341Tyr)
 gnomAD v4
Xg.41474475A>CCA412992105NYXc.1007A>C (p.Asp336Ala)
c.1022A>C (p.Asp341Ala)
Xg.41474475A>GCA412992106NYXc.1007A>G (p.Asp336Gly)
c.1022A>G (p.Asp341Gly)
Xg.41474475A>TCA412992107NYXc.1007A>T (p.Asp336Val)
c.1022A>T (p.Asp341Val)
Xg.41474476C>ACA412992108NYXc.1008C>A (p.Asp336Glu)
c.1023C>A (p.Asp341Glu)
Xg.41474476C>GCA412992109NYXc.1008C>G (p.Asp336Glu)
c.1023C>G (p.Asp341Glu)
Xg.41474476C>TCA516366244NYXc.1008C>T (p.Asp336=)
c.1023C>T (p.Asp341=)
 gnomAD v4
Xg.41474477T>ACA412992110NYXc.1009T>A (p.Cys337Ser)
c.1024T>A (p.Cys342Ser)
Xg.41474477T>CCA412992111NYXc.1009T>C (p.Cys337Arg)
c.1024T>C (p.Cys342Arg)
Xg.41474477T>GCA412992112NYXc.1009T>G (p.Cys337Gly)
c.1024T>G (p.Cys342Gly)
Xg.41474478G>ACA412992113NYXc.1010G>A (p.Cys337Tyr)
c.1025G>A (p.Cys342Tyr)
 gnomAD v4
Xg.41474478G>CCA412992114NYXc.1010G>C (p.Cys337Ser)
c.1025G>C (p.Cys342Ser)
Xg.41474478G>TCA412992115NYXc.1010G>T (p.Cys337Phe)
c.1025G>T (p.Cys342Phe)
 gnomAD v4
Xg.41474479C>ACA412992117NYXc.1011C>A (p.Cys337Ter)
c.1026C>A (p.Cys342Ter)
Xg.41474479C>GCA412992116NYXc.1011C>G (p.Cys337Trp)
c.1026C>G (p.Cys342Trp)
Xg.41474479C>TCA516366250NYXc.1011C>T (p.Cys337=)
c.1026C>T (p.Cys342=)
Xg.41474480delCA2820585822NYXc.1012del (p.Arg338ValfsTer5)
c.1027del (p.Arg343ValfsTer5)
Xg.41474480C>ACA412992118NYXc.1012C>A (p.Arg338Ser)
c.1027C>A (p.Arg343Ser)
Xg.41474480C=CA2425928087NYXc.1012C= (p.Arg338=)
c.1027C= (p.Arg343=)
Xg.41474480C>GCA412992120NYXc.1012C>G (p.Arg338Gly)
c.1027C>G (p.Arg343Gly)
Xg.41474480C>TCA412992119NYXc.1012C>T (p.Arg338Cys)
c.1027C>T (p.Arg343Cys)
 dbSNP gnomAD v4
Xg.41474481G>ACA412992121NYXc.1013G>A (p.Arg338His)
c.1028G>A (p.Arg343His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.41474481G>CCA412992122NYXc.1013G>C (p.Arg338Pro)
c.1028G>C (p.Arg343Pro)
Xg.41474481G=CA2425928088NYXc.1013G= (p.Arg338=)
c.1028G= (p.Arg343=)
Xg.41474481G>TCA412992123NYXc.1013G>T (p.Arg338Leu)
c.1028G>T (p.Arg343Leu)
 gnomAD v4
Xg.41474482T>ACA516366258NYXc.1014T>A (p.Arg338=)
c.1029T>A (p.Arg343=)
Xg.41474482T>CCA516366259NYXc.1014T>C (p.Arg338=)
c.1029T>C (p.Arg343=)
Xg.41474482T>GCA10389895NYXc.1014T>G (p.Arg338=)
c.1029T>G (p.Arg343=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474482T=CA2425928089NYXc.1014T= (p.Arg338=)
c.1029T= (p.Arg343=)
Xg.41474483C>ACA412992124NYXc.1015C>A (p.Leu339Met)
c.1030C>A (p.Leu344Met)
Xg.41474483C=CA2425928090NYXc.1015C= (p.Leu339=)
c.1030C= (p.Leu344=)
Xg.41474483C>GCA412992125NYXc.1015C>G (p.Leu339Val)
c.1030C>G (p.Leu344Val)
 dbSNP gnomAD v4
Xg.41474483C>TCA516366266NYXc.1015C>T (p.Leu339=)
c.1030C>T (p.Leu344=)
Xg.41474484T>ACA412992126NYXc.1016T>A (p.Leu339Gln)
c.1031T>A (p.Leu344Gln)
Xg.41474484T>CCA412992127NYXc.1016T>C (p.Leu339Pro)
c.1031T>C (p.Leu344Pro)
Xg.41474484T>GCA412992128NYXc.1016T>G (p.Leu339Arg)
c.1031T>G (p.Leu344Arg)
Xg.41474485G>ACA516366278NYXc.1017G>A (p.Leu339=)
c.1032G>A (p.Leu344=)
 gnomAD v4
Xg.41474485G>CCA516366277NYXc.1017G>C (p.Leu339=)
c.1032G>C (p.Leu344=)
Xg.41474485G>TCA516366276NYXc.1017G>T (p.Leu339=)
c.1032G>T (p.Leu344=)
 gnomAD v4
Xg.41474486G>ACA412992129NYXc.1018G>A (p.Glu340Lys)
c.1033G>A (p.Glu345Lys)
Xg.41474486G>CCA412992130NYXc.1018G>C (p.Glu340Gln)
c.1033G>C (p.Glu345Gln)
Xg.41474486G>TCA412992131NYXc.1018G>T (p.Glu340Ter)
c.1033G>T (p.Glu345Ter)
 gnomAD v4
Xg.41474487A>CCA412992132NYXc.1019A>C (p.Glu340Ala)
c.1034A>C (p.Glu345Ala)
Xg.41474487A>GCA412992134NYXc.1019A>G (p.Glu340Gly)
c.1034A>G (p.Glu345Gly)
Xg.41474487A>TCA412992133NYXc.1019A>T (p.Glu340Val)
c.1034A>T (p.Glu345Val)
Xg.41474488G>ACA10389896NYXc.1020G>A (p.Glu340=)
c.1035G>A (p.Glu345=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474488G>CCA412992135NYXc.1020G>C (p.Glu340Asp)
c.1035G>C (p.Glu345Asp)
Xg.41474488G=CA2425928091NYXc.1020G= (p.Glu340=)
c.1035G= (p.Glu345=)
Xg.41474488G>TCA412992136NYXc.1020G>T (p.Glu340Asp)
c.1035G>T (p.Glu345Asp)
Xg.41474489T>ACA412992137NYXc.1021T>A (p.Trp341Arg)
c.1036T>A (p.Trp346Arg)
Xg.41474489T>CCA412992138NYXc.1021T>C (p.Trp341Arg)
c.1036T>C (p.Trp346Arg)
Xg.41474489T>GCA412992139NYXc.1021T>G (p.Trp341Gly)
c.1036T>G (p.Trp346Gly)
Xg.41474490G>ACA412992140NYXc.1022G>A (p.Trp341Ter)
c.1037G>A (p.Trp346Ter)
Xg.41474490G>CCA412992141NYXc.1022G>C (p.Trp341Ser)
c.1037G>C (p.Trp346Ser)
 gnomAD v4
Xg.41474490G>TCA412992142NYXc.1022G>T (p.Trp341Leu)
c.1037G>T (p.Trp346Leu)
Xg.41474491G>ACA412992144NYXc.1023G>A (p.Trp341Ter)
c.1038G>A (p.Trp346Ter)
 ClinVar
Xg.41474491G>CCA412992145NYXc.1023G>C (p.Trp341Cys)
c.1038G>C (p.Trp346Cys)
Xg.41474491G>TCA412992143NYXc.1023G>T (p.Trp341Cys)
c.1038G>T (p.Trp346Cys)
Xg.41474492C>ACA412992146NYXc.1024C>A (p.Leu342Met)
c.1039C>A (p.Leu347Met)
 gnomAD v4
Xg.41474492C>GCA412992147NYXc.1024C>G (p.Leu342Val)
c.1039C>G (p.Leu347Val)
Xg.41474492C>TCA516366322NYXc.1024C>T (p.Leu342=)
c.1039C>T (p.Leu347=)
 gnomAD v4
Xg.41474493T>ACA412992148NYXc.1025T>A (p.Leu342Gln)
c.1040T>A (p.Leu347Gln)
Xg.41474493T>CCA227933NYXc.1025T>C (p.Leu342Pro)
c.1040T>C (p.Leu347Pro)
 ClinVar dbSNP
Xg.41474493T>GCA412992149NYXc.1025T>G (p.Leu342Arg)
c.1040T>G (p.Leu347Arg)
Xg.41474493T=CA2425928092NYXc.1025T= (p.Leu342=)
c.1040T= (p.Leu347=)
Xg.41474494G>ACA516366330NYXc.1026G>A (p.Leu342=)
c.1041G>A (p.Leu347=)
Xg.41474494G>CCA516366331NYXc.1026G>C (p.Leu342=)
c.1041G>C (p.Leu347=)
Xg.41474494G>TCA516366339NYXc.1026G>T (p.Leu342=)
c.1041G>T (p.Leu347=)
Xg.41474495A=CA2425928093NYXc.1027A= (p.Arg343=)
c.1042A= (p.Arg348=)
Xg.41474495A>CCA516366343NYXc.1027A>C (p.Arg343=)
c.1042A>C (p.Arg348=)
Xg.41474495A>GCA10389897NYXc.1027A>G (p.Arg343Gly)
c.1042A>G (p.Arg348Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474495A>TCA412992150NYXc.1027A>T (p.Arg343Trp)
c.1042A>T (p.Arg348Trp)
Xg.41474496G>ACA10389898NYXc.1028G>A (p.Arg343Lys)
c.1043G>A (p.Arg348Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474496G>CCA412992151NYXc.1028G>C (p.Arg343Thr)
c.1043G>C (p.Arg348Thr)
Xg.41474496G=CA2425928094NYXc.1028G= (p.Arg343=)
c.1043G= (p.Arg348=)
Xg.41474496G>TCA412992152NYXc.1028G>T (p.Arg343Met)
c.1043G>T (p.Arg348Met)
Xg.41474497G>ACA516366358NYXc.1029G>A (p.Arg343=)
c.1044G>A (p.Arg348=)
Xg.41474497G>CCA412992153NYXc.1029G>C (p.Arg343Ser)
c.1044G>C (p.Arg348Ser)
Xg.41474497G>TCA412992154NYXc.1029G>T (p.Arg343Ser)
c.1044G>T (p.Arg348Ser)
 gnomAD v4
Xg.41474498G>ACA412992156NYXc.1030G>A (p.Asp344Asn)
c.1045G>A (p.Asp349Asn)
 gnomAD v4 COSMIC
Xg.41474498G>CCA412992157NYXc.1030G>C (p.Asp344His)
c.1045G>C (p.Asp349His)
Xg.41474498G>TCA412992155NYXc.1030G>T (p.Asp344Tyr)
c.1045G>T (p.Asp349Tyr)
 gnomAD v4
Xg.41474499A=CA2425928095NYXc.1031A= (p.Asp344=)
c.1046A= (p.Asp349=)
Xg.41474499A>CCA412992158NYXc.1031A>C (p.Asp344Ala)
c.1046A>C (p.Asp349Ala)
Xg.41474499A>GCA412992159NYXc.1031A>G (p.Asp344Gly)
c.1046A>G (p.Asp349Gly)
Xg.41474499A>TCA10389899NYXc.1031A>T (p.Asp344Val)
c.1046A>T (p.Asp349Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474500C>ACA412992160NYXc.1032C>A (p.Asp344Glu)
c.1047C>A (p.Asp349Glu)
Xg.41474500C>GCA412992161NYXc.1032C>G (p.Asp344Glu)
c.1047C>G (p.Asp349Glu)
 ClinVar
Xg.41474500C>TCA516366371NYXc.1032C>T (p.Asp344=)
c.1047C>T (p.Asp349=)
Xg.41474501T>ACA412992164NYXc.1033T>A (p.Trp345Arg)
c.1048T>A (p.Trp350Arg)
Xg.41474501T>CCA412992162NYXc.1033T>C (p.Trp345Arg)
c.1048T>C (p.Trp350Arg)
 gnomAD v4
Xg.41474501T>GCA412992163NYXc.1033T>G (p.Trp345Gly)
c.1048T>G (p.Trp350Gly)
Xg.41474502G>ACA227934NYXc.1034G>A (p.Trp345Ter)
c.1049G>A (p.Trp350Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474502G>CCA412992165NYXc.1034G>C (p.Trp345Ser)
c.1049G>C (p.Trp350Ser)
Xg.41474502G=CA2425928096NYXc.1034G= (p.Trp345=)
c.1049G= (p.Trp350=)
Xg.41474502G>TCA412992166NYXc.1034G>T (p.Trp345Leu)
c.1049G>T (p.Trp350Leu)
Xg.41474503G>ACA412992167NYXc.1035G>A (p.Trp345Ter)
c.1050G>A (p.Trp350Ter)
 gnomAD v4
Xg.41474503G>CCA412992168NYXc.1035G>C (p.Trp345Cys)
c.1050G>C (p.Trp350Cys)
Xg.41474503G>TCA412992169NYXc.1035G>T (p.Trp345Cys)
c.1050G>T (p.Trp350Cys)
 gnomAD v4
Xg.41474504A=CA2425928097NYXc.1036A= (p.Met346=)
c.1051A= (p.Met351=)
Xg.41474504A>CCA10389900NYXc.1036A>C (p.Met346Leu)
c.1051A>C (p.Met351Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474504A>GCA412992171NYXc.1036A>G (p.Met346Val)
c.1051A>G (p.Met351Val)
 gnomAD v4
Xg.41474504A>TCA412992170NYXc.1036A>T (p.Met346Leu)
c.1051A>T (p.Met351Leu)
 gnomAD v4
Xg.41474505T>ACA412992173NYXc.1037T>A (p.Met346Lys)
c.1052T>A (p.Met351Lys)
Xg.41474505T>CCA412992172NYXc.1037T>C (p.Met346Thr)
c.1052T>C (p.Met351Thr)
Xg.41474505T>GCA412992174NYXc.1037T>G (p.Met346Arg)
c.1052T>G (p.Met351Arg)
Xg.41474506G>ACA412992175NYXc.1038G>A (p.Met346Ile)
c.1053G>A (p.Met351Ile)
Xg.41474506G>CCA412992176NYXc.1038G>C (p.Met346Ile)
c.1053G>C (p.Met351Ile)
Xg.41474506G>TCA412992177NYXc.1038G>T (p.Met346Ile)
c.1053G>T (p.Met351Ile)
Xg.41474507G>ACA412992178NYXc.1039G>A (p.Glu347Lys)
c.1054G>A (p.Glu352Lys)
Xg.41474507G>CCA412992179NYXc.1039G>C (p.Glu347Gln)
c.1054G>C (p.Glu352Gln)
Xg.41474507G>TCA412992180NYXc.1039G>T (p.Glu347Ter)
c.1054G>T (p.Glu352Ter)
 gnomAD v4
Xg.41474508delCA2579588826NYXc.1040del (p.Glu347GlyfsTer25)
c.1055del (p.Glu352GlyfsTer25)
Xg.41474508A>CCA412992181NYXc.1040A>C (p.Glu347Ala)
c.1055A>C (p.Glu352Ala)
Xg.41474508A>GCA412992182NYXc.1040A>G (p.Glu347Gly)
c.1055A>G (p.Glu352Gly)
 gnomAD v4
Xg.41474508A>TCA412992183NYXc.1040A>T (p.Glu347Val)
c.1055A>T (p.Glu352Val)
Xg.41474509G>ACA516366425NYXc.1041G>A (p.Glu347=)
c.1056G>A (p.Glu352=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474509G>CCA412992184NYXc.1041G>C (p.Glu347Asp)
c.1056G>C (p.Glu352Asp)
Xg.41474509G=CA2425928098NYXc.1041G= (p.Glu347=)
c.1056G= (p.Glu352=)
Xg.41474509G>TCA412992185NYXc.1041G>T (p.Glu347Asp)
c.1056G>T (p.Glu352Asp)
Xg.41474510G>ACA412992188NYXc.1042G>A (p.Gly348Ser)
c.1057G>A (p.Gly353Ser)
 ClinVar dbSNP
Xg.41474510G>CCA412992187NYXc.1042G>C (p.Gly348Arg)
c.1057G>C (p.Gly353Arg)
Xg.41474510G>TCA412992186NYXc.1042G>T (p.Gly348Cys)
c.1057G>T (p.Gly353Cys)
 gnomAD v4
Xg.41474511G>ACA412992483NYXc.1043G>A (p.Gly348Asp)
c.1058G>A (p.Gly353Asp)
Xg.41474511G>CCA412992484NYXc.1043G>C (p.Gly348Ala)
c.1058G>C (p.Gly353Ala)
Xg.41474511G>TCA412992485NYXc.1043G>T (p.Gly348Val)
c.1058G>T (p.Gly353Val)
 gnomAD v4
Xg.41474512C>ACA516365876NYXc.1044C>A (p.Gly348=)
c.1059C>A (p.Gly353=)
Xg.41474512C>GCA516365875NYXc.1044C>G (p.Gly348=)
c.1059C>G (p.Gly353=)
Xg.41474512C>TCA516365874NYXc.1044C>T (p.Gly348=)
c.1059C>T (p.Gly353=)
Xg.41474513T>ACA412992486NYXc.1045T>A (p.Ser349Thr)
c.1060T>A (p.Ser354Thr)
Xg.41474513T>CCA412992487NYXc.1045T>C (p.Ser349Pro)
c.1060T>C (p.Ser354Pro)
Xg.41474513T>GCA412992488NYXc.1045T>G (p.Ser349Ala)
c.1060T>G (p.Ser354Ala)
Xg.41474514C>ACA412992489NYXc.1046C>A (p.Ser349Tyr)
c.1061C>A (p.Ser354Tyr)
 gnomAD v4
Xg.41474514C>GCA412992490NYXc.1046C>G (p.Ser349Cys)
c.1061C>G (p.Ser354Cys)
Xg.41474514C>TCA412992491NYXc.1046C>T (p.Ser349Phe)
c.1061C>T (p.Ser354Phe)
 COSMIC
Xg.41474515C>ACA516365879NYXc.1047C>A (p.Ser349=)
c.1062C>A (p.Ser354=)
 gnomAD v4
Xg.41474515C=CA2425928099NYXc.1047C= (p.Ser349=)
c.1062C= (p.Ser354=)
Xg.41474515C>GCA516365880NYXc.1047C>G (p.Ser349=)
c.1062C>G (p.Ser354=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474515C>TCA516365881NYXc.1047C>T (p.Ser349=)
c.1062C>T (p.Ser354=)
 gnomAD v4
Xg.41474516G>ACA10389901NYXc.1048G>A (p.Gly350Arg)
c.1063G>A (p.Gly355Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474516G>CCA412992492NYXc.1048G>C (p.Gly350Arg)
c.1063G>C (p.Gly355Arg)
Xg.41474516G=CA2425928100NYXc.1048G= (p.Gly350=)
c.1063G= (p.Gly355=)
Xg.41474516G>TCA412992493NYXc.1048G>T (p.Gly350Ter)
c.1063G>T (p.Gly355Ter)
 gnomAD v4
Xg.41474517G>ACA412992496NYXc.1049G>A (p.Gly350Glu)
c.1064G>A (p.Gly355Glu)
Xg.41474517G>CCA412992495NYXc.1049G>C (p.Gly350Ala)
c.1064G>C (p.Gly355Ala)
Xg.41474517G>TCA412992494NYXc.1049G>T (p.Gly350Val)
c.1064G>T (p.Gly355Val)
 gnomAD v4
Xg.41474518A>CCA516365882NYXc.1050A>C (p.Gly350=)
c.1065A>C (p.Gly355=)
Xg.41474518A>GCA516365884NYXc.1050A>G (p.Gly350=)
c.1065A>G (p.Gly355=)
 gnomAD v4
Xg.41474518A>TCA516365883NYXc.1050A>T (p.Gly350=)
c.1065A>T (p.Gly355=)
Xg.41474519C>ACA412992497NYXc.1051C>A (p.Arg351Ser)
c.1066C>A (p.Arg356Ser)
Xg.41474519C=CA2425928101NYXc.1051C= (p.Arg351=)
c.1066C= (p.Arg356=)
Xg.41474519C>GCA412992498NYXc.1051C>G (p.Arg351Gly)
c.1066C>G (p.Arg356Gly)
 dbSNP gnomAD v4
Xg.41474519C>TCA10389902NYXc.1051C>T (p.Arg351Cys)
c.1066C>T (p.Arg356Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474519_41474521delinsCGTCA2425928102NYXc.1051_1053delinsCGT (p.Arg351=)
c.1066_1068delinsCGT (p.Arg356=)
Xg.41474520G>ACA412992499NYXc.1052G>A (p.Arg351His)
c.1067G>A (p.Arg356His)
 gnomAD v4
Xg.41474520G>CCA412992500NYXc.1052G>C (p.Arg351Pro)
c.1067G>C (p.Arg356Pro)
Xg.41474520G>TCA412992501NYXc.1052G>T (p.Arg351Leu)
c.1067G>T (p.Arg356Leu)
Xg.41474522_41474523delCA915951044NYXc.1054_1055del (p.Val352HisfsTer?)
c.1069_1070del (p.Val357HisfsTer?)
 ClinVar dbSNP
Xg.41474521T>ACA516365885NYXc.1053T>A (p.Arg351=)
c.1068T>A (p.Arg356=)
Xg.41474521T>CCA516365886NYXc.1053T>C (p.Arg351=)
c.1068T>C (p.Arg356=)
Xg.41474521T>GCA516365887NYXc.1053T>G (p.Arg351=)
c.1068T>G (p.Arg356=)
Xg.41474522G>ACA412992502NYXc.1054G>A (p.Val352Ile)
c.1069G>A (p.Val357Ile)
 gnomAD v4
Xg.41474522G>CCA412992503NYXc.1054G>C (p.Val352Leu)
c.1069G>C (p.Val357Leu)
Xg.41474522G>TCA412992504NYXc.1054G>T (p.Val352Phe)
c.1069G>T (p.Val357Phe)
 gnomAD v4
Xg.41474523delCA2546103442NYXc.1055del (p.Val352AlafsTer20)
c.1070del (p.Val357AlafsTer20)
Xg.41474523T>ACA412992505NYXc.1055T>A (p.Val352Asp)
c.1070T>A (p.Val357Asp)
Xg.41474523T>CCA412992506NYXc.1055T>C (p.Val352Ala)
c.1070T>C (p.Val357Ala)
Xg.41474523T>GCA412992507NYXc.1055T>G (p.Val352Gly)
c.1070T>G (p.Val357Gly)
Xg.41474524C>ACA516365890NYXc.1056C>A (p.Val352=)
c.1071C>A (p.Val357=)
Xg.41474524C>GCA516365892NYXc.1056C>G (p.Val352=)
c.1071C>G (p.Val357=)
Xg.41474524C>TCA516365891NYXc.1056C>T (p.Val352=)
c.1071C>T (p.Val357=)
Xg.41474525A=CA2425928103NYXc.1057A= (p.Thr353=)
c.1072A= (p.Thr358=)
Xg.41474525A>CCA412992510NYXc.1057A>C (p.Thr353Pro)
c.1072A>C (p.Thr358Pro)
Xg.41474525A>GCA412992508NYXc.1057A>G (p.Thr353Ala)
c.1072A>G (p.Thr358Ala)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474525A>TCA412992509NYXc.1057A>T (p.Thr353Ser)
c.1072A>T (p.Thr358Ser)
Xg.41474525_41474526insGCA2545649389NYXc.1057_1058insG (p.Thr353SerfsTer?)
c.1072_1073insG (p.Thr358SerfsTer?)
Xg.41474526C>ACA412992512NYXc.1058C>A (p.Thr353Asn)
c.1073C>A (p.Thr358Asn)
Xg.41474526C=CA2425928104NYXc.1058C= (p.Thr353=)
c.1073C= (p.Thr358=)
Xg.41474526C>GCA412992514NYXc.1058C>G (p.Thr353Ser)
c.1073C>G (p.Thr358Ser)
 gnomAD v4
Xg.41474526C>TCA412992515NYXc.1058C>T (p.Thr353Ile)
c.1073C>T (p.Thr358Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474527C>ACA516365894NYXc.1059C>A (p.Thr353=)
c.1074C>A (p.Thr358=)
 gnomAD v4 COSMIC
Xg.41474527C=CA2425928105NYXc.1059C= (p.Thr353=)
c.1074C= (p.Thr358=)
Xg.41474527C>GCA516365895NYXc.1059C>G (p.Thr353=)
c.1074C>G (p.Thr358=)
Xg.41474527C>TCA10389903NYXc.1059C>T (p.Thr353=)
c.1074C>T (p.Thr358=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474528G>ACA412992518NYXc.1060G>A (p.Asp354Asn)
c.1075G>A (p.Asp359Asn)
 gnomAD v4
Xg.41474528G>CCA412992520NYXc.1060G>C (p.Asp354His)
c.1075G>C (p.Asp359His)
Xg.41474528G>TCA412992522NYXc.1060G>T (p.Asp354Tyr)
c.1075G>T (p.Asp359Tyr)
Xg.41474529A>CCA412992523NYXc.1061A>C (p.Asp354Ala)
c.1076A>C (p.Asp359Ala)
Xg.41474529A>GCA412992525NYXc.1061A>G (p.Asp354Gly)
c.1076A>G (p.Asp359Gly)
Xg.41474529A>TCA412992526NYXc.1061A>T (p.Asp354Val)
c.1076A>T (p.Asp359Val)
Xg.41474530C>ACA412992528NYXc.1062C>A (p.Asp354Glu)
c.1077C>A (p.Asp359Glu)
Xg.41474530C=CA2425928106NYXc.1062C= (p.Asp354=)
c.1077C= (p.Asp359=)
Xg.41474530C>GCA412992529NYXc.1062C>G (p.Asp354Glu)
c.1077C>G (p.Asp359Glu)
 dbSNP
Xg.41474530C>TCA516365897NYXc.1062C>T (p.Asp354=)
c.1077C>T (p.Asp359=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474531G>ACA10389904NYXc.1063G>A (p.Val355Met)
c.1078G>A (p.Val360Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474531G>CCA412992534NYXc.1063G>C (p.Val355Leu)
c.1078G>C (p.Val360Leu)
Xg.41474531G=CA2425928107NYXc.1063G= (p.Val355=)
c.1078G= (p.Val360=)
Xg.41474531G>TCA412992532NYXc.1063G>T (p.Val355Leu)
c.1078G>T (p.Val360Leu)
Xg.41474532T>ACA412992536NYXc.1064T>A (p.Val355Glu)
c.1079T>A (p.Val360Glu)
Xg.41474532T>CCA412992538NYXc.1064T>C (p.Val355Ala)
c.1079T>C (p.Val360Ala)
Xg.41474532T>GCA412992539NYXc.1064T>G (p.Val355Gly)
c.1079T>G (p.Val360Gly)
Xg.41474533G>ACA516365903NYXc.1065G>A (p.Val355=)
c.1080G>A (p.Val360=)
 gnomAD v4
Xg.41474533G>CCA516365901NYXc.1065G>C (p.Val355=)
c.1080G>C (p.Val360=)
Xg.41474533G>TCA516365902NYXc.1065G>T (p.Val355=)
c.1080G>T (p.Val360=)
Xg.41474534C>ACA412992542NYXc.1066C>A (p.Pro356Thr)
c.1081C>A (p.Pro361Thr)
Xg.41474534C>GCA412992543NYXc.1066C>G (p.Pro356Ala)
c.1081C>G (p.Pro361Ala)
Xg.41474534C>TCA412992545NYXc.1066C>T (p.Pro356Ser)
c.1081C>T (p.Pro361Ser)
 gnomAD v4 COSMIC
Xg.41474535C>ACA412992551NYXc.1067C>A (p.Pro356Gln)
c.1082C>A (p.Pro361Gln)
 gnomAD v4
Xg.41474535C>GCA412992547NYXc.1067C>G (p.Pro356Arg)
c.1082C>G (p.Pro361Arg)
Xg.41474535C>TCA412992549NYXc.1067C>T (p.Pro356Leu)
c.1082C>T (p.Pro361Leu)
 gnomAD v4
Xg.41474536G>ACA516365907NYXc.1068G>A (p.Pro356=)
c.1083G>A (p.Pro361=)
 gnomAD v4
Xg.41474536G>CCA516365908NYXc.1068G>C (p.Pro356=)
c.1083G>C (p.Pro361=)
Xg.41474536G>TCA516365909NYXc.1068G>T (p.Pro356=)
c.1083G>T (p.Pro361=)
 gnomAD v4
Xg.41474537T>ACA412992553NYXc.1069T>A (p.Cys357Ser)
c.1084T>A (p.Cys362Ser)
Xg.41474537T>CCA412992555NYXc.1069T>C (p.Cys357Arg)
c.1084T>C (p.Cys362Arg)
Xg.41474537T>GCA412992556NYXc.1069T>G (p.Cys357Gly)
c.1084T>G (p.Cys362Gly)
Xg.41474538G>ACA412992558NYXc.1070G>A (p.Cys357Tyr)
c.1085G>A (p.Cys362Tyr)
Xg.41474538G>CCA412992560NYXc.1070G>C (p.Cys357Ser)
c.1085G>C (p.Cys362Ser)
Xg.41474538G=CA2425928108NYXc.1070G= (p.Cys357=)
c.1085G= (p.Cys362=)
Xg.41474538G>TCA329217076NYXc.1070G>T (p.Cys357Phe)
c.1085G>T (p.Cys362Phe)
 dbSNP gnomAD v4 COSMIC
Xg.41474539delCA2695233446NYXc.1071del (p.Cys357TrpfsTer15)
c.1086del (p.Cys362TrpfsTer15)
Xg.41474539C>ACA412992563NYXc.1071C>A (p.Cys357Ter)
c.1086C>A (p.Cys362Ter)
 ClinVar
Xg.41474539C=CA2425928109NYXc.1071C= (p.Cys357=)
c.1086C= (p.Cys362=)
Xg.41474539C>GCA412992566NYXc.1071C>G (p.Cys357Trp)
c.1086C>G (p.Cys362Trp)
Xg.41474539C>TCA10389905NYXc.1071C>T (p.Cys357=)
c.1086C>T (p.Cys362=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474540G>ACA412992568NYXc.1072G>A (p.Ala358Thr)
c.1087G>A (p.Ala363Thr)
 gnomAD v4
Xg.41474540G>CCA412992570NYXc.1072G>C (p.Ala358Pro)
c.1087G>C (p.Ala363Pro)
Xg.41474540G=CA2425928110NYXc.1072G= (p.Ala358=)
c.1087G= (p.Ala363=)
Xg.41474540G>TCA412992572NYXc.1072G>T (p.Ala358Ser)
c.1087G>T (p.Ala363Ser)
 dbSNP gnomAD v4
Xg.41474541C>ACA412992574NYXc.1073C>A (p.Ala358Asp)
c.1088C>A (p.Ala363Asp)
Xg.41474541C=CA2425928111NYXc.1073C= (p.Ala358=)
c.1088C= (p.Ala363=)
Xg.41474541C>GCA412992576NYXc.1073C>G (p.Ala358Gly)
c.1088C>G (p.Ala363Gly)
 gnomAD v4
Xg.41474541C>TCA412992578NYXc.1073C>T (p.Ala358Val)
c.1088C>T (p.Ala363Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474542C>ACA516365915NYXc.1074C>A (p.Ala358=)
c.1089C>A (p.Ala363=)
 gnomAD v4
Xg.41474542C>GCA516365916NYXc.1074C>G (p.Ala358=)
c.1089C>G (p.Ala363=)
Xg.41474542C>TCA516365917NYXc.1074C>T (p.Ala358=)
c.1089C>T (p.Ala363=)
Xg.41474543T>ACA412992580NYXc.1075T>A (p.Ser359Thr)
c.1090T>A (p.Ser364Thr)
Xg.41474543T>CCA412992582NYXc.1075T>C (p.Ser359Pro)
c.1090T>C (p.Ser364Pro)
 gnomAD v4
Xg.41474543T>GCA412992583NYXc.1075T>G (p.Ser359Ala)
c.1090T>G (p.Ser364Ala)
Xg.41474544C>ACA10389906NYXc.1076C>A (p.Ser359Tyr)
c.1091C>A (p.Ser364Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41474544C=CA2425928112NYXc.1076C= (p.Ser359=)
c.1091C= (p.Ser364=)
Xg.41474544C>GCA412992586NYXc.1076C>G (p.Ser359Cys)
c.1091C>G (p.Ser364Cys)
Xg.41474544C>TCA10389907NYXc.1076C>T (p.Ser359Phe)
c.1091C>T (p.Ser364Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474547delCA645612109NYXc.1079del (p.Pro360ArgfsTer12)
c.1094del (p.Pro365ArgfsTer12)
 gnomAD v4 COSMIC
Xg.41474545C>ACA516365921NYXc.1077C>A (p.Ser359=)
c.1092C>A (p.Ser364=)
Xg.41474545C=CA2425928113NYXc.1077C= (p.Ser359=)
c.1092C= (p.Ser364=)
Xg.41474545C>GCA516365922NYXc.1077C>G (p.Ser359=)
c.1092C>G (p.Ser364=)
Xg.41474545C>TCA516365924NYXc.1077C>T (p.Ser359=)
c.1092C>T (p.Ser364=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474546C>ACA412992589NYXc.1078C>A (p.Pro360Thr)
c.1093C>A (p.Pro365Thr)
 gnomAD v4
Xg.41474546C=CA2425928114NYXc.1078C= (p.Pro360=)
c.1093C= (p.Pro365=)
Xg.41474546C>GCA412992593NYXc.1078C>G (p.Pro360Ala)
c.1093C>G (p.Pro365Ala)
Xg.41474546C>TCA412992591NYXc.1078C>T (p.Pro360Ser)
c.1093C>T (p.Pro365Ser)
 ClinVar dbSNP
Xg.41474547C>ACA412992595NYXc.1079C>A (p.Pro360Gln)
c.1094C>A (p.Pro365Gln)
 gnomAD v4
Xg.41474547C>GCA412992597NYXc.1079C>G (p.Pro360Arg)
c.1094C>G (p.Pro365Arg)
 gnomAD v4
Xg.41474547C>TCA412992598NYXc.1079C>T (p.Pro360Leu)
c.1094C>T (p.Pro365Leu)
 gnomAD v4 COSMIC
Xg.41474548G>ACA329217077NYXc.1080G>A (p.Pro360=)
c.1095G>A (p.Pro365=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474548G>CCA516365932NYXc.1080G>C (p.Pro360=)
c.1095G>C (p.Pro365=)
Xg.41474548G=CA2425928115NYXc.1080G= (p.Pro360=)
c.1095G= (p.Pro365=)
Xg.41474548G>TCA516365933NYXc.1080G>T (p.Pro360=)
c.1095G>T (p.Pro365=)
 ClinVar gnomAD v4
Xg.41474549G>ACA412992599NYXc.1081G>A (p.Gly361Ser)
c.1096G>A (p.Gly366Ser)
Xg.41474549G>CCA329217078NYXc.1081G>C (p.Gly361Arg)
c.1096G>C (p.Gly366Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474549G=CA2425928116NYXc.1081G= (p.Gly361=)
c.1096G= (p.Gly366=)
Xg.41474549G>TCA412992602NYXc.1081G>T (p.Gly361Cys)
c.1096G>T (p.Gly366Cys)
 gnomAD v4
Xg.41474550G>ACA412992604NYXc.1082G>A (p.Gly361Asp)
c.1097G>A (p.Gly366Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474550G>CCA412992605NYXc.1082G>C (p.Gly361Ala)
c.1097G>C (p.Gly366Ala)
 dbSNP gnomAD v3 gnomAD v4
Xg.41474550G=CA2425928117NYXc.1082G= (p.Gly361=)
c.1097G= (p.Gly366=)
Xg.41474550G>TCA412992607NYXc.1082G>T (p.Gly361Val)
c.1097G>T (p.Gly366Val)
 gnomAD v4
Xg.41474551C>ACA516365938NYXc.1083C>A (p.Gly361=)
c.1098C>A (p.Gly366=)
Xg.41474551C=CA2425928118NYXc.1083C= (p.Gly361=)
c.1098C= (p.Gly366=)
Xg.41474551C>GCA516365940NYXc.1083C>G (p.Gly361=)
c.1098C>G (p.Gly366=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41474551C>TCA516365941NYXc.1083C>T (p.Gly361=)
c.1098C>T (p.Gly366=)
 ClinVar
Xg.41474552T>ACA412992610NYXc.1084T>A (p.Ser362Thr)
c.1099T>A (p.Ser367Thr)
Xg.41474552T>CCA412992611NYXc.1084T>C (p.Ser362Pro)
c.1099T>C (p.Ser367Pro)
Xg.41474552T>GCA412992613NYXc.1084T>G (p.Ser362Ala)
c.1099T>G (p.Ser367Ala)
Xg.41474553C>ACA412992618NYXc.1085C>A (p.Ser362Tyr)
c.1100C>A (p.Ser367Tyr)
 gnomAD v4
Xg.41474553C>GCA412992617NYXc.1085C>G (p.Ser362Cys)
c.1100C>G (p.Ser367Cys)
Xg.41474553C>TCA412992615NYXc.1085C>T (p.Ser362Phe)
c.1100C>T (p.Ser367Phe)
Xg.41474554C>ACA516365946NYXc.1086C>A (p.Ser362=)
c.1101C>A (p.Ser367=)
 gnomAD v4
Xg.41474554C=CA2425928119NYXc.1086C= (p.Ser362=)
c.1101C= (p.Ser367=)
Xg.41474554C>GCA516365945NYXc.1086C>G (p.Ser362=)
c.1101C>G (p.Ser367=)
Xg.41474554C>TCA10389908NYXc.1086C>T (p.Ser362=)
c.1101C>T (p.Ser367=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474555G>ACA329217079NYXc.1087G>A (p.Val363Met)
c.1102G>A (p.Val368Met)
 dbSNP gnomAD v4
Xg.41474555G>CCA412992621NYXc.1087G>C (p.Val363Leu)
c.1102G>C (p.Val368Leu)
Xg.41474555G=CA2425928120NYXc.1087G= (p.Val363=)
c.1102G= (p.Val368=)
Xg.41474555G>TCA412992622NYXc.1087G>T (p.Val363Leu)
c.1102G>T (p.Val368Leu)
 gnomAD v4
Xg.41474556T>ACA412992624NYXc.1088T>A (p.Val363Glu)
c.1103T>A (p.Val368Glu)
 ClinVar
Xg.41474556T>CCA412992626NYXc.1088T>C (p.Val363Ala)
c.1103T>C (p.Val368Ala)
Xg.41474556T>GCA412992628NYXc.1088T>G (p.Val363Gly)
c.1103T>G (p.Val368Gly)
Xg.41474557G>ACA516365952NYXc.1089G>A (p.Val363=)
c.1104G>A (p.Val368=)
Xg.41474557G>CCA516365953NYXc.1089G>C (p.Val363=)
c.1104G>C (p.Val368=)
Xg.41474557G>TCA516365955NYXc.1089G>T (p.Val363=)
c.1104G>T (p.Val368=)
Xg.41474558G>ACA412992630NYXc.1090G>A (p.Ala364Thr)
c.1105G>A (p.Ala369Thr)
 gnomAD v4
Xg.41474558G>CCA412992632NYXc.1090G>C (p.Ala364Pro)
c.1105G>C (p.Ala369Pro)
Xg.41474558G>TCA412992633NYXc.1090G>T (p.Ala364Ser)
c.1105G>T (p.Ala369Ser)
Xg.41474559C>ACA412992636NYXc.1091C>A (p.Ala364Asp)
c.1106C>A (p.Ala369Asp)
 gnomAD v4
Xg.41474559C>GCA412992637NYXc.1091C>G (p.Ala364Gly)
c.1106C>G (p.Ala369Gly)
Xg.41474559C>TCA412992638NYXc.1091C>T (p.Ala364Val)
c.1106C>T (p.Ala369Val)
 gnomAD v4
Xg.41474560C>ACA516365958NYXc.1092C>A (p.Ala364=)
c.1107C>A (p.Ala369=)
Xg.41474560C=CA2425928121NYXc.1092C= (p.Ala364=)
c.1107C= (p.Ala369=)
Xg.41474560C>GCA516365961NYXc.1092C>G (p.Ala364=)
c.1107C>G (p.Ala369=)
Xg.41474560C>TCA516365959NYXc.1092C>T (p.Ala364=)
c.1107C>T (p.Ala369=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.41474561G>ACA412992643NYXc.1093G>A (p.Gly365Ser)
c.1108G>A (p.Gly370Ser)
 gnomAD v4 COSMIC
Xg.41474561G>CCA412992644NYXc.1093G>C (p.Gly365Arg)
c.1108G>C (p.Gly370Arg)
Xg.41474561G>TCA412992641NYXc.1093G>T (p.Gly365Cys)
c.1108G>T (p.Gly370Cys)
 gnomAD v4
Xg.41474562G>ACA412992646NYXc.1094G>A (p.Gly365Asp)
c.1109G>A (p.Gly370Asp)
 gnomAD v4
Xg.41474562G>CCA412992647NYXc.1094G>C (p.Gly365Ala)
c.1109G>C (p.Gly370Ala)
Xg.41474562G=CA2425928122NYXc.1094G= (p.Gly365=)
c.1109G= (p.Gly370=)
Xg.41474562G>TCA227938NYXc.1094G>T (p.Gly365Val)
c.1109G>T (p.Gly370Val)
 ClinVar dbSNP gnomAD v4
Xg.41474563C>ACA516365968NYXc.1095C>A (p.Gly365=)
c.1110C>A (p.Gly370=)
 gnomAD v4
Xg.41474563C=CA2425928123NYXc.1095C= (p.Gly365=)
c.1110C= (p.Gly370=)
Xg.41474563C>GCA516365966NYXc.1095C>G (p.Gly365=)
c.1110C>G (p.Gly370=)
Xg.41474563C>TCA516365964NYXc.1095C>T (p.Gly365=)
c.1110C>T (p.Gly370=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474564C>ACA412992650NYXc.1096C>A (p.Leu366Met)
c.1111C>A (p.Leu371Met)
 gnomAD v4
Xg.41474564C=CA2425928124NYXc.1096C= (p.Leu366=)
c.1111C= (p.Leu371=)
Xg.41474564C>GCA412992652NYXc.1096C>G (p.Leu366Val)
c.1111C>G (p.Leu371Val)
Xg.41474564C>TCA10389909NYXc.1096C>T (p.Leu366=)
c.1111C>T (p.Leu371=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41474565T>ACA412992655NYXc.1097T>A (p.Leu366Gln)
c.1112T>A (p.Leu371Gln)
 gnomAD v4
Xg.41474565T>CCA412992656NYXc.1097T>C (p.Leu366Pro)
c.1112T>C (p.Leu371Pro)
 gnomAD v4
Xg.41474565T>GCA412992658NYXc.1097T>G (p.Leu366Arg)
c.1112T>G (p.Leu371Arg)
Xg.41474566G>ACA516365971NYXc.1098G>A (p.Leu366=)
c.1113G>A (p.Leu371=)
Xg.41474566G>CCA516365975NYXc.1098G>C (p.Leu366=)
c.1113G>C (p.Leu371=)
 gnomAD v4
Xg.41474566G>TCA516365972NYXc.1098G>T (p.Leu366=)
c.1113G>T (p.Leu371=)
 gnomAD v4

Number of alleles fetched