Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.77918040_77918125delCA2600639596NEXNc.298+2_299del
c.106+2_107del
 gnomAD v3 gnomAD v4
1g.77918114T>GCA24705360NEXNc.299-11T>G (n.299-11T>G)
c.107-11T>G (n.107-11T>G)
 dbSNP
1g.77918114T=CA1141132135NEXNc.299-11T= (n.299-11T=)
c.107-11T= (n.107-11T=)
1g.77918115A=CA1177620313NEXNc.299-10A= (n.299-10A=)
c.107-10A= (n.107-10A=)
1g.77918115A>GCA524230682NEXNc.299-10A>G (n.299-10A>G)
c.107-10A>G (n.107-10A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.77918115A>TCA524230683NEXNc.299-10A>T (n.299-10A>T)
c.107-10A>T (n.107-10A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77918117A=CA1177620314NEXNc.299-8A= (n.299-8A=)
c.107-8A= (n.107-8A=)
1g.77918117A>GCA1177620315NEXNc.299-8A>G (n.299-8A>G)
c.107-8A>G (n.107-8A>G)
 dbSNP
1g.77918117A>TCA524230684NEXNc.299-8A>T (n.299-8A>T)
c.107-8A>T (n.107-8A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77918118T>CCA1177620317NEXNc.299-7T>C (n.299-7T>C)
c.107-7T>C (n.107-7T>C)
 dbSNP
1g.77918118T=CA1177620316NEXNc.299-7T= (n.299-7T=)
c.107-7T= (n.107-7T=)
1g.77918119T>ACA2646303566NEXNc.299-6T>A (n.299-6T>A)
c.107-6T>A (n.107-6T>A)
 gnomAD v4
1g.77918119T>GCA24705362NEXNc.299-6T>G (n.299-6T>G)
c.107-6T>G (n.107-6T>G)
 dbSNP
1g.77918119T=CA1177620318NEXNc.299-6T= (n.299-6T=)
c.107-6T= (n.107-6T=)
1g.77918121T>GCA2515041659NEXNc.299-4T>G (n.299-4T>G)
c.107-4T>G (n.107-4T>G)
1g.77918122T>CCA142153NEXNc.299-3T>C (n.299-3T>C)
c.107-3T>C (n.107-3T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77918122T=CA1144228864NEXNc.299-3T= (n.299-3T=)
c.107-3T= (n.107-3T=)
1g.77918123A>CCA340886406NEXNc.299-2A>C (n.299-2A>C)
c.107-2A>C (n.107-2A>C)
1g.77918123A>GCA340886407NEXNc.299-2A>G (n.299-2A>G)
c.107-2A>G (n.107-2A>G)
1g.77918123A>TCA340886408NEXNc.299-2A>T (n.299-2A>T)
c.107-2A>T (n.107-2A>T)
1g.77918124G>ACA340886411NEXNc.299-1G>A (n.299-1G>A)
c.107-1G>A (n.107-1G>A)
 COSMIC COSMIC
1g.77918124G>CCA340886409NEXNc.299-1G>C (n.299-1G>C)
c.107-1G>C (n.107-1G>C)
1g.77918124G>TCA340886410NEXNc.299-1G>T (n.299-1G>T)
c.107-1G>T (n.107-1G>T)
1g.77918125G>ACA340886412NEXNc.299G>A (p.Gly100Glu)
c.107G>A (p.Gly36Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.77918125G>CCA340886413NEXNc.299G>C (p.Gly100Ala)
c.107G>C (p.Gly36Ala)
1g.77918125G=CA1177620319NEXNc.299G= (p.Gly100=)
c.107G= (p.Gly36=)
1g.77918125G>TCA340886414NEXNc.299G>T (p.Gly100Val)
c.107G>T (p.Gly36Val)
1g.77918126A>CCA418709091NEXNc.300A>C (p.Gly100=)
c.108A>C (p.Gly36=)
1g.77918126A>GCA418709092NEXNc.300A>G (p.Gly100=)
c.108A>G (p.Gly36=)
1g.77918126A>TCA418709093NEXNc.300A>T (p.Gly100=)
c.108A>T (p.Gly36=)
 gnomAD v4
1g.77918127A>CCA340886415NEXNc.301A>C (p.Thr101Pro)
c.109A>C (p.Thr37Pro)
1g.77918127A>GCA340886416NEXNc.301A>G (p.Thr101Ala)
c.109A>G (p.Thr37Ala)
 COSMIC COSMIC
1g.77918127A>TCA340886417NEXNc.301A>T (p.Thr101Ser)
c.109A>T (p.Thr37Ser)
 gnomAD v4
1g.77918128C>ACA340886418NEXNc.302C>A (p.Thr101Asn)
c.110C>A (p.Thr37Asn)
c.1C>A
1g.77918128C>GCA340886419NEXNc.302C>G (p.Thr101Ser)
c.110C>G (p.Thr37Ser)
c.1C>G
1g.77918128C>TCA340886420NEXNc.302C>T (p.Thr101Ile)
c.110C>T (p.Thr37Ile)
c.1C>T
1g.77918129T>ACA418709100NEXNc.303T>A (p.Thr101=)
c.111T>A (p.Thr37=)
c.2T>A
1g.77918129T>CCA418709101NEXNc.303T>C (p.Thr101=)
c.111T>C (p.Thr37=)
c.2T>C
1g.77918129T>GCA418709103NEXNc.303T>G (p.Thr101=)
c.111T>G (p.Thr37=)
c.2T>G
1g.77918130G>ACA340886421NEXNc.304G>A (p.Val102Met)
c.112G>A (p.Val38Met)
c.3G>A
1g.77918130G>CCA340886422NEXNc.304G>C (p.Val102Leu)
c.112G>C (p.Val38Leu)
c.3G>C
1g.77918130G>TCA340886423NEXNc.304G>T (p.Val102Leu)
c.112G>T (p.Val38Leu)
c.3G>T
1g.77918131T>ACA340886424NEXNc.305T>A (p.Val102Glu)
c.113T>A (p.Val38Glu)
c.4T>A
1g.77918131T>CCA340886426NEXNc.305T>C (p.Val102Ala)
c.113T>C (p.Val38Ala)
c.4T>C
1g.77918131T>GCA340886425NEXNc.305T>G (p.Val102Gly)
c.113T>G (p.Val38Gly)
c.4T>G
1g.77918132G>ACA418709107NEXNc.306G>A (p.Val102=)
c.114G>A (p.Val38=)
c.5G>A
 dbSNP gnomAD v4
1g.77918132G>CCA418709108NEXNc.306G>C (p.Val102=)
c.114G>C (p.Val38=)
c.5G>C
1g.77918132G=CA1177620320NEXNc.306G= (p.Val102=)
c.114G= (p.Val38=)
c.5G=
1g.77918132G>TCA418709106NEXNc.306G>T (p.Val102=)
c.114G>T (p.Val38=)
c.5G>T
1g.77918133A>CCA340886427NEXNc.307A>C (p.Lys103Gln)
c.115A>C (p.Lys39Gln)
c.6A>C
1g.77918133A>GCA340886428NEXNc.307A>G (p.Lys103Glu)
c.115A>G (p.Lys39Glu)
c.6A>G
1g.77918133A>TCA340886429NEXNc.307A>T (p.Lys103Ter)
c.115A>T (p.Lys39Ter)
c.6A>T
1g.77918134A>CCA340886430NEXNc.308A>C (p.Lys103Thr)
c.116A>C (p.Lys39Thr)
c.7A>C
 gnomAD v4
1g.77918134A>GCA340886431NEXNc.308A>G (p.Lys103Arg)
c.116A>G (p.Lys39Arg)
c.7A>G
1g.77918134A>TCA340886432NEXNc.308A>T (p.Lys103Met)
c.116A>T (p.Lys39Met)
c.7A>T
1g.77918135G>ACA418709112NEXNc.309G>A (p.Lys103=)
c.117G>A (p.Lys39=)
c.8G>A
 dbSNP gnomAD v2 gnomAD v4
1g.77918135G>CCA340886433NEXNc.309G>C (p.Lys103Asn)
c.117G>C (p.Lys39Asn)
c.8G>C
1g.77918135G=CA1177620321NEXNc.309G= (p.Lys103=)
c.117G= (p.Lys39=)
c.8G=
1g.77918135G>TCA340886434NEXNc.309G>T (p.Lys103Asn)
c.117G>T (p.Lys39Asn)
c.8G>T
1g.77918136G>ACA918616NEXNc.310G>A (p.Gly104Ser)
c.118G>A (p.Gly40Ser)
c.9G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918136G>CCA340886435NEXNc.310G>C (p.Gly104Arg)
c.118G>C (p.Gly40Arg)
c.9G>C
1g.77918136G=CA1177620322NEXNc.310G= (p.Gly104=)
c.118G= (p.Gly40=)
c.9G=
1g.77918136G>TCA340886436NEXNc.310G>T (p.Gly104Cys)
c.118G>T (p.Gly40Cys)
c.9G>T
 gnomAD v4
1g.77918137G>ACA340886439NEXNc.311G>A (p.Gly104Asp)
c.119G>A (p.Gly40Asp)
c.10G>A
 ClinVar
1g.77918137G>CCA340886438NEXNc.311G>C (p.Gly104Ala)
c.119G>C (p.Gly40Ala)
c.10G>C
1g.77918137G>TCA340886437NEXNc.311G>T (p.Gly104Val)
c.119G>T (p.Gly40Val)
c.10G>T
1g.77918138T>ACA418709122NEXNc.312T>A (p.Gly104=)
c.120T>A (p.Gly40=)
c.11T>A
 gnomAD v4
1g.77918138T>CCA24705377NEXNc.312T>C (p.Gly104=)
c.120T>C (p.Gly40=)
c.11T>C
 dbSNP gnomAD v4
1g.77918138T>GCA418709123NEXNc.312T>G (p.Gly104=)
c.120T>G (p.Gly40=)
c.11T>G
1g.77918138T=CA1144445565NEXNc.312T= (p.Gly104=)
c.120T= (p.Gly40=)
c.11T=
1g.77918139A=CA1177620323NEXNc.313A= (p.Arg105=)
c.121A= (p.Arg41=)
c.12A=
1g.77918139A>CCA418709124NEXNc.313A>C (p.Arg105=)
c.121A>C (p.Arg41=)
c.12A>C
1g.77918139A>GCA340886440NEXNc.313A>G (p.Arg105Gly)
c.121A>G (p.Arg41Gly)
c.12A>G
 dbSNP
1g.77918139A>TCA340886441NEXNc.313A>T (p.Arg105Ter)
c.121A>T (p.Arg41Ter)
c.12A>T
1g.77918140G>ACA340886442NEXNc.314G>A (p.Arg105Lys)
c.122G>A (p.Arg41Lys)
c.13G>A
1g.77918140G>CCA918617NEXNc.314G>C (p.Arg105Thr)
c.122G>C (p.Arg41Thr)
c.13G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77918140G=CA1177620324NEXNc.314G= (p.Arg105=)
c.122G= (p.Arg41=)
c.13G=
1g.77918140G>TCA340886443NEXNc.314G>T (p.Arg105Ile)
c.122G>T (p.Arg41Ile)
c.13G>T
 gnomAD v4
1g.77918141A=CA1148043131NEXNc.315A= (p.Arg105=)
c.123A= (p.Arg41=)
c.14A=
1g.77918141A>CCA340886444NEXNc.315A>C (p.Arg105Ser)
c.123A>C (p.Arg41Ser)
c.14A>C
1g.77918141A>GCA918618NEXNc.315A>G (p.Arg105=)
c.123A>G (p.Arg41=)
c.14A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918141A>TCA340886445NEXNc.315A>T (p.Arg105Ser)
c.123A>T (p.Arg41Ser)
c.14A>T
 dbSNP gnomAD v2 gnomAD v4
1g.77918142T>ACA340886446NEXNc.316T>A (p.Phe106Ile)
c.124T>A (p.Phe42Ile)
c.15T>A
1g.77918142T>CCA340886447NEXNc.316T>C (p.Phe106Leu)
c.124T>C (p.Phe42Leu)
c.15T>C
 gnomAD v4
1g.77918142T>GCA340886448NEXNc.316T>G (p.Phe106Val)
c.124T>G (p.Phe42Val)
c.15T>G
1g.77918143T>ACA340886450NEXNc.317T>A (p.Phe106Tyr)
c.125T>A (p.Phe42Tyr)
c.16T>A
1g.77918143T>CCA340886451NEXNc.317T>C (p.Phe106Ser)
c.125T>C (p.Phe42Ser)
c.16T>C
1g.77918143T>GCA340886449NEXNc.317T>G (p.Phe106Cys)
c.125T>G (p.Phe42Cys)
c.16T>G
1g.77918144T>ACA340886453NEXNc.318T>A (p.Phe106Leu)
c.126T>A (p.Phe42Leu)
c.17T>A
1g.77918144T>CCA418709130NEXNc.318T>C (p.Phe106=)
c.126T>C (p.Phe42=)
c.17T>C
1g.77918144T>GCA340886452NEXNc.318T>G (p.Phe106Leu)
c.126T>G (p.Phe42Leu)
c.17T>G
1g.77918145G>ACA340886454NEXNc.319G>A (p.Ala107Thr)
c.127G>A (p.Ala43Thr)
c.18G>A
1g.77918145G>CCA340886455NEXNc.319G>C (p.Ala107Pro)
c.127G>C (p.Ala43Pro)
c.18G>C
 gnomAD v4
1g.77918145G>TCA340886456NEXNc.319G>T (p.Ala107Ser)
c.127G>T (p.Ala43Ser)
c.18G>T
1g.77918146C>ACA340886457NEXNc.320C>A (p.Ala107Asp)
c.128C>A (p.Ala43Asp)
c.19C>A
1g.77918146C=CA1177620325NEXNc.320C= (p.Ala107=)
c.128C= (p.Ala43=)
c.19C=
1g.77918146C>GCA340886458NEXNc.320C>G (p.Ala107Gly)
c.128C>G (p.Ala43Gly)
c.19C>G
1g.77918146C>TCA340886459NEXNc.320C>T (p.Ala107Val)
c.128C>T (p.Ala43Val)
c.19C>T
 ClinVar dbSNP
1g.77918147T>ACA418709135NEXNc.321T>A (p.Ala107=)
c.129T>A (p.Ala43=)
c.20T>A
 ClinVar dbSNP gnomAD v4
1g.77918147T>CCA418709134NEXNc.321T>C (p.Ala107=)
c.129T>C (p.Ala43=)
c.20T>C
1g.77918147T>GCA418709133NEXNc.321T>G (p.Ala107=)
c.129T>G (p.Ala43=)
c.20T>G
1g.77918147T=CA1177620326NEXNc.321T= (p.Ala107=)
c.129T= (p.Ala43=)
c.20T=
1g.77918148G>ACA24705381NEXNc.322G>A (p.Glu108Lys)
c.130G>A (p.Glu44Lys)
c.21G>A
 dbSNP COSMIC COSMIC
1g.77918148G>CCA340886460NEXNc.322G>C (p.Glu108Gln)
c.130G>C (p.Glu44Gln)
c.21G>C
1g.77918148G=CA1177620327NEXNc.322G= (p.Glu108=)
c.130G= (p.Glu44=)
c.21G=
1g.77918148G>TCA340886461NEXNc.322G>T (p.Glu108Ter)
c.130G>T (p.Glu44Ter)
c.21G>T
1g.77918149A>CCA340886462NEXNc.323A>C (p.Glu108Ala)
c.131A>C (p.Glu44Ala)
c.22A>C
1g.77918149A>GCA340886463NEXNc.323A>G (p.Glu108Gly)
c.131A>G (p.Glu44Gly)
c.22A>G
1g.77918149A>TCA340886464NEXNc.323A>T (p.Glu108Val)
c.131A>T (p.Glu44Val)
c.22A>T
1g.77918150A=CA1177620328NEXNc.324A= (p.Glu108=)
c.132A= (p.Glu44=)
c.23A=
1g.77918150A>CCA340886465NEXNc.324A>C (p.Glu108Asp)
c.132A>C (p.Glu44Asp)
c.23A>C
1g.77918150A>GCA418709139NEXNc.324A>G (p.Glu108=)
c.132A>G (p.Glu44=)
c.23A>G
 dbSNP gnomAD v3 gnomAD v4
1g.77918150A>TCA340886466NEXNc.324A>T (p.Glu108Asp)
c.132A>T (p.Glu44Asp)
c.23A>T
1g.77918151A=CA1177620329NEXNc.325A= (p.Met109=)
c.133A= (p.Met45=)
c.24A=
1g.77918151A>CCA340886467NEXNc.325A>C (p.Met109Leu)
c.133A>C (p.Met45Leu)
c.24A>C
1g.77918151A>GCA340886468NEXNc.325A>G (p.Met109Val)
c.133A>G (p.Met45Val)
c.24A>G
 dbSNP gnomAD v2 gnomAD v4
1g.77918151A>TCA340886469NEXNc.325A>T (p.Met109Leu)
c.133A>T (p.Met45Leu)
c.24A>T
1g.77918152T>ACA340886470NEXNc.326T>A (p.Met109Lys)
c.134T>A (p.Met45Lys)
c.25T>A
 dbSNP gnomAD v3 gnomAD v4
1g.77918152T>CCA340886471NEXNc.326T>C (p.Met109Thr)
c.134T>C (p.Met45Thr)
c.25T>C
1g.77918152T>GCA340886472NEXNc.326T>G (p.Met109Arg)
c.134T>G (p.Met45Arg)
c.25T>G
1g.77918152T=CA1177620330NEXNc.326T= (p.Met109=)
c.134T= (p.Met45=)
c.25T=
1g.77918153G>ACA340886473NEXNc.327G>A (p.Met109Ile)
c.135G>A (p.Met45Ile)
c.26G>A
1g.77918153G>CCA340886474NEXNc.327G>C (p.Met109Ile)
c.135G>C (p.Met45Ile)
c.26G>C
1g.77918153G>TCA340886475NEXNc.327G>T (p.Met109Ile)
c.135G>T (p.Met45Ile)
c.26G>T
1g.77918154G>ACA340886476NEXNc.328G>A (p.Glu110Lys)
c.136G>A (p.Glu46Lys)
c.27G>A
1g.77918154G>CCA24705386NEXNc.328G>C (p.Glu110Gln)
c.136G>C (p.Glu46Gln)
c.27G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77918154G=CA1177620331NEXNc.328G= (p.Glu110=)
c.136G= (p.Glu46=)
c.27G=
1g.77918154G>TCA340886477NEXNc.328G>T (p.Glu110Ter)
c.136G>T (p.Glu46Ter)
c.27G>T
1g.77918155delCA2646303617NEXNc.329del (p.Glu110GlyfsTer25)
c.137del (p.Glu46GlyfsTer25)
c.28del
 gnomAD v4
1g.77918155A=CA1144074546NEXNc.329A= (p.Glu110=)
c.137A= (p.Glu46=)
c.28A=
1g.77918155A>CCA340886479NEXNc.329A>C (p.Glu110Ala)
c.137A>C (p.Glu46Ala)
c.28A>C
 gnomAD v4
1g.77918155A>GCA918619NEXNc.329A>G (p.Glu110Gly)
c.137A>G (p.Glu46Gly)
c.28A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918155A>TCA340886478NEXNc.329A>T (p.Glu110Val)
c.137A>T (p.Glu46Val)
c.28A>T
1g.77918156G>ACA418709148NEXNc.330G>A (p.Glu110=)
c.138G>A (p.Glu46=)
c.29G>A
1g.77918156G>CCA340886480NEXNc.330G>C (p.Glu110Asp)
c.138G>C (p.Glu46Asp)
c.29G>C
1g.77918156G>TCA340886481NEXNc.330G>T (p.Glu110Asp)
c.138G>T (p.Glu46Asp)
c.29G>T
1g.77918157A>CCA340886482NEXNc.331A>C (p.Lys111Gln)
c.139A>C (p.Lys47Gln)
c.30A>C
1g.77918157A>GCA340886483NEXNc.331A>G (p.Lys111Glu)
c.139A>G (p.Lys47Glu)
c.30A>G
1g.77918157A>TCA340886484NEXNc.331A>T (p.Lys111Ter)
c.139A>T (p.Lys47Ter)
c.30A>T
1g.77918158A>CCA340886485NEXNc.332A>C (p.Lys111Thr)
c.140A>C (p.Lys47Thr)
c.31A>C
1g.77918158A>GCA340886486NEXNc.332A>G (p.Lys111Arg)
c.140A>G (p.Lys47Arg)
c.31A>G
1g.77918158A>TCA340886487NEXNc.332A>T (p.Lys111Ile)
c.140A>T (p.Lys47Ile)
c.31A>T
1g.77918159A>CCA340886488NEXNc.333A>C (p.Lys111Asn)
c.141A>C (p.Lys47Asn)
c.32A>C
1g.77918159A>GCA418709151NEXNc.333A>G (p.Lys111=)
c.141A>G (p.Lys47=)
c.32A>G
1g.77918159A>TCA340886489NEXNc.333A>T (p.Lys111Asn)
c.141A>T (p.Lys47Asn)
c.32A>T
1g.77918163_77918168delCA2646303619NEXNc.337_342del (p.Arg113_Gln114del)
c.145_150del (p.Arg49_Gln50del)
c.36_41del
 gnomAD v4
1g.77918160C>ACA340886490NEXNc.334C>A (p.Gln112Lys)
c.142C>A (p.Gln48Lys)
c.33C>A
1g.77918160C>GCA340886491NEXNc.334C>G (p.Gln112Glu)
c.142C>G (p.Gln48Glu)
c.33C>G
1g.77918160C>TCA340886492NEXNc.334C>T (p.Gln112Ter)
c.142C>T (p.Gln48Ter)
c.33C>T
 gnomAD v4
1g.77918160_77918161delinsCACA1177620332NEXNc.334_335delinsCA (p.Gln112=)
c.142_143delinsCA (p.Gln48=)
c.33_34delinsCA
1g.77918161A=CA1139954422NEXNc.335A= (p.Gln112=)
c.143A= (p.Gln48=)
c.34A=
1g.77918161A>CCA24705388NEXNc.335A>C (p.Gln112Pro)
c.143A>C (p.Gln48Pro)
c.34A>C
 dbSNP
1g.77918161A>GCA340886494NEXNc.335A>G (p.Gln112Arg)
c.143A>G (p.Gln48Arg)
c.34A>G
 ClinVar dbSNP
1g.77918161A>TCA340886493NEXNc.335A>T (p.Gln112Leu)
c.143A>T (p.Gln48Leu)
c.34A>T
1g.77918163delCA1177620333NEXNc.337del (p.Arg113AspfsTer22)
c.145del (p.Arg49AspfsTer22)
c.36del
 dbSNP gnomAD v4
1g.77918162_77918163delCA2646303629NEXNc.336_337del (p.Arg113ThrfsTer17)
c.144_145del (p.Arg49ThrfsTer17)
c.35_36del
 gnomAD v4
1g.77918162A>CCA340886495NEXNc.336A>C (p.Gln112His)
c.144A>C (p.Gln48His)
c.35A>C
1g.77918162A>GCA418709158NEXNc.336A>G (p.Gln112=)
c.144A>G (p.Gln48=)
c.35A>G
1g.77918162A>TCA340886496NEXNc.336A>T (p.Gln112His)
c.144A>T (p.Gln48His)
c.35A>T
1g.77918163A=CA1177620334NEXNc.337A= (p.Arg113=)
c.145A= (p.Arg49=)
c.36A=
1g.77918163A>CCA418709161NEXNc.337A>C (p.Arg113=)
c.145A>C (p.Arg49=)
c.36A>C
1g.77918163A>GCA340886497NEXNc.337A>G (p.Arg113Gly)
c.145A>G (p.Arg49Gly)
c.36A>G
 ClinVar dbSNP gnomAD v2
1g.77918163A>TCA340886498NEXNc.337A>T (p.Arg113Ter)
c.145A>T (p.Arg49Ter)
c.36A>T
1g.77918164G>ACA340886499NEXNc.338G>A (p.Arg113Lys)
c.146G>A (p.Arg49Lys)
c.37G>A
 COSMIC COSMIC
1g.77918164G>CCA340886500NEXNc.338G>C (p.Arg113Thr)
c.146G>C (p.Arg49Thr)
c.37G>C
1g.77918164G=CA1177620335NEXNc.338G= (p.Arg113=)
c.146G= (p.Arg49=)
c.37G=
1g.77918164G>TCA340886501NEXNc.338G>T (p.Arg113Ile)
c.146G>T (p.Arg49Ile)
c.37G>T
 dbSNP
1g.77918165A=CA1177620336NEXNc.339A= (p.Arg113=)
c.147A= (p.Arg49=)
c.38A=
1g.77918165A>CCA340886502NEXNc.339A>C (p.Arg113Ser)
c.147A>C (p.Arg49Ser)
c.38A>C
1g.77918165A>GCA918620NEXNc.339A>G (p.Arg113=)
c.147A>G (p.Arg49=)
c.38A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.77918165A>TCA340886503NEXNc.339A>T (p.Arg113Ser)
c.147A>T (p.Arg49Ser)
c.38A>T
1g.77918166C>ACA340886504NEXNc.340C>A (p.Gln114Lys)
c.148C>A (p.Gln50Lys)
c.39C>A
1g.77918166C>GCA340886505NEXNc.340C>G (p.Gln114Glu)
c.148C>G (p.Gln50Glu)
c.39C>G
1g.77918166C>TCA340886506NEXNc.340C>T (p.Gln114Ter)
c.148C>T (p.Gln50Ter)
c.39C>T
1g.77918166_77918168delinsCAACA1177620337NEXNc.340_342delinsCAA (p.Gln114=)
c.148_150delinsCAA (p.Gln50=)
c.39_41delinsCAA
1g.77918167A=CA1177620338NEXNc.341A= (p.Gln114=)
c.149A= (p.Gln50=)
c.40A=
1g.77918167A>CCA24705399NEXNc.341A>C (p.Gln114Pro)
c.149A>C (p.Gln50Pro)
c.40A>C
 dbSNP
1g.77918167A>GCA340886507NEXNc.341A>G (p.Gln114Arg)
c.149A>G (p.Gln50Arg)
c.40A>G
1g.77918167A>TCA340886508NEXNc.341A>T (p.Gln114Leu)
c.149A>T (p.Gln50Leu)
c.40A>T
1g.77918167_77918168delCA142154NEXNc.341_342del (p.Gln114ArgfsTer16)
c.149_150del (p.Gln50ArgfsTer16)
c.40_41del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918167_77918168delinsAACA1144228865NEXNc.341_342delinsAA (p.Gln114=)
c.149_150delinsAA (p.Gln50=)
c.40_41delinsAA
1g.77918168A>CCA340886510NEXNc.342A>C (p.Gln114His)
c.150A>C (p.Gln50His)
c.41A>C
1g.77918168A>GCA418709168NEXNc.342A>G (p.Gln114=)
c.150A>G (p.Gln50=)
c.41A>G
 gnomAD v4
1g.77918168A>TCA340886509NEXNc.342A>T (p.Gln114His)
c.150A>T (p.Gln50His)
c.41A>T
1g.77918169G>ACA340886512NEXNc.343G>A (p.Glu115Lys)
c.151G>A (p.Glu51Lys)
c.42G>A
 dbSNP gnomAD v4
1g.77918169G>CCA340886511NEXNc.343G>C (p.Glu115Gln)
c.151G>C (p.Glu51Gln)
c.42G>C
1g.77918169G=CA1177620339NEXNc.343G= (p.Glu115=)
c.151G= (p.Glu51=)
c.42G=
1g.77918169G>TCA340886513NEXNc.343G>T (p.Glu115Ter)
c.151G>T (p.Glu51Ter)
c.42G>T
1g.77918170A>CCA340886514NEXNc.344A>C (p.Glu115Ala)
c.152A>C (p.Glu51Ala)
c.43A>C
1g.77918170A>GCA340886515NEXNc.344A>G (p.Glu115Gly)
c.152A>G (p.Glu51Gly)
c.43A>G
 COSMIC COSMIC
1g.77918170A>TCA340886516NEXNc.344A>T (p.Glu115Val)
c.152A>T (p.Glu51Val)
c.43A>T
1g.77918171G>ACA918621NEXNc.345G>A (p.Glu115=)
c.153G>A (p.Glu51=)
c.44G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77918171G>CCA340886517NEXNc.345G>C (p.Glu115Asp)
c.153G>C (p.Glu51Asp)
c.44G>C
 ClinVar dbSNP
1g.77918171G=CA1177620340NEXNc.345G= (p.Glu115=)
c.153G= (p.Glu51=)
c.44G=
1g.77918171G>TCA918622NEXNc.345G>T (p.Glu115Asp)
c.153G>T (p.Glu51Asp)
c.44G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77918172delCA2646303645NEXNc.346del (p.Glu116AsnfsTer19)
c.154del (p.Glu52AsnfsTer19)
c.45del
 gnomAD v4
1g.77918172G>ACA340886518NEXNc.346G>A (p.Glu116Lys)
c.154G>A (p.Glu52Lys)
c.45G>A
 dbSNP gnomAD v2
1g.77918172G>CCA340886519NEXNc.346G>C (p.Glu116Gln)
c.154G>C (p.Glu52Gln)
c.45G>C
1g.77918172G=CA1177620341NEXNc.346G= (p.Glu116=)
c.154G= (p.Glu52=)
c.45G=
1g.77918172G>TCA340886520NEXNc.346G>T (p.Glu116Ter)
c.154G>T (p.Glu52Ter)
c.45G>T
1g.77918172_77918175delCA2600639603NEXNc.346_349del (p.Glu116LysfsTer18)
c.154_157del (p.Glu52LysfsTer18)
c.45_48del
 dbSNP gnomAD v3 gnomAD v4
1g.77918173A>CCA340886521NEXNc.347A>C (p.Glu116Ala)
c.155A>C (p.Glu52Ala)
c.46A>C
1g.77918173A>GCA340886522NEXNc.347A>G (p.Glu116Gly)
c.155A>G (p.Glu52Gly)
c.46A>G
1g.77918173A>TCA340886523NEXNc.347A>T (p.Glu116Val)
c.155A>T (p.Glu52Val)
c.46A>T
1g.77918174A>CCA340886524NEXNc.348A>C (p.Glu116Asp)
c.156A>C (p.Glu52Asp)
c.47A>C
1g.77918174A>GCA418709176NEXNc.348A>G (p.Glu116=)
c.156A>G (p.Glu52=)
c.47A>G
 gnomAD v4
1g.77918174A>TCA340886525NEXNc.348A>T (p.Glu116Asp)
c.156A>T (p.Glu52Asp)
c.47A>T
1g.77918175C>ACA340886526NEXNc.349C>A (p.Gln117Lys)
c.157C>A (p.Gln53Lys)
c.48C>A
 gnomAD v4
1g.77918175C>GCA340886527NEXNc.349C>G (p.Gln117Glu)
c.157C>G (p.Gln53Glu)
c.48C>G
1g.77918175C>TCA340886528NEXNc.349C>T (p.Gln117Ter)
c.157C>T (p.Gln53Ter)
c.48C>T
1g.77918175_77918176insTTCA2600639604NEXNc.349_350insTT (p.Gln117LeufsTer19)
c.157_158insTT (p.Gln53LeufsTer19)
c.48_49insTT
 dbSNP gnomAD v3 gnomAD v4
1g.77918176A=CA1177620342NEXNc.350A= (p.Gln117=)
c.158A= (p.Gln53=)
c.49A=
1g.77918176A>CCA340886529NEXNc.350A>C (p.Gln117Pro)
c.158A>C (p.Gln53Pro)
c.49A>C
 gnomAD v4
1g.77918176A>GCA340886530NEXNc.350A>G (p.Gln117Arg)
c.158A>G (p.Gln53Arg)
c.49A>G
 dbSNP gnomAD v2
1g.77918176A>TCA340886531NEXNc.350A>T (p.Gln117Leu)
c.158A>T (p.Gln53Leu)
c.49A>T
1g.77918177A>CCA340886532NEXNc.351A>C (p.Gln117His)
c.159A>C (p.Gln53His)
c.50A>C
1g.77918177A>GCA418709179NEXNc.351A>G (p.Gln117=)
c.159A>G (p.Gln53=)
c.50A>G
1g.77918177A>TCA340886533NEXNc.351A>T (p.Gln117His)
c.159A>T (p.Gln53His)
c.50A>T
1g.77918180_77918183delCA2580063257NEXNc.354_357del (p.Lys119GlufsTer15)
c.162_165del (p.Lys55GlufsTer15)
c.53_56del
 ClinVar
1g.77918178A>CCA418709184NEXNc.352A>C (p.Arg118=)
c.160A>C (p.Arg54=)
c.51A>C
 ClinVar dbSNP
1g.77918178A>GCA340886534NEXNc.352A>G (p.Arg118Gly)
c.160A>G (p.Arg54Gly)
c.51A>G
1g.77918178A>TCA340886535NEXNc.352A>T (p.Arg118Trp)
c.160A>T (p.Arg54Trp)
c.51A>T
1g.77918179G>ACA340886537NEXNc.353G>A (p.Arg118Lys)
c.161G>A (p.Arg54Lys)
c.52G>A
1g.77918179G>CCA340886538NEXNc.353G>C (p.Arg118Thr)
c.161G>C (p.Arg54Thr)
c.52G>C
1g.77918179G>TCA340886536NEXNc.353G>T (p.Arg118Met)
c.161G>T (p.Arg54Met)
c.52G>T
1g.77918180G>ACA918623NEXNc.354G>A (p.Arg118=)
c.162G>A (p.Arg54=)
c.53G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918180G>CCA340886539NEXNc.354G>C (p.Arg118Ser)
c.162G>C (p.Arg54Ser)
c.53G>C
1g.77918180G=CA1149142415NEXNc.354G= (p.Arg118=)
c.162G= (p.Arg54=)
c.53G=
1g.77918180G>TCA340886540NEXNc.354G>T (p.Arg118Ser)
c.162G>T (p.Arg54Ser)
c.53G>T
1g.77918181A>CCA340886541NEXNc.355A>C (p.Lys119Gln)
c.163A>C (p.Lys55Gln)
c.54A>C
1g.77918181A>GCA340886542NEXNc.355A>G (p.Lys119Glu)
c.163A>G (p.Lys55Glu)
c.54A>G
1g.77918181A>TCA340886543NEXNc.355A>T (p.Lys119Ter)
c.163A>T (p.Lys55Ter)
c.54A>T
1g.77918182A>CCA340886544NEXNc.356A>C (p.Lys119Thr)
c.164A>C (p.Lys55Thr)
c.55A>C
1g.77918182A>GCA340886546NEXNc.356A>G (p.Lys119Arg)
c.164A>G (p.Lys55Arg)
c.55A>G
 gnomAD v4
1g.77918182A>TCA340886545NEXNc.356A>T (p.Lys119Met)
c.164A>T (p.Lys55Met)
c.55A>T
1g.77918183G>ACA418709192NEXNc.357G>A (p.Lys119=)
c.165G>A (p.Lys55=)
c.56G>A
 gnomAD v4 COSMIC COSMIC
1g.77918183G>CCA340886547NEXNc.357G>C (p.Lys119Asn)
c.165G>C (p.Lys55Asn)
c.56G>C
1g.77918183G>TCA340886548NEXNc.357G>T (p.Lys119Asn)
c.165G>T (p.Lys55Asn)
c.56G>T
1g.77918184A>CCA418709195NEXNc.358A>C (p.Arg120=)
c.166A>C (p.Arg56=)
c.57A>C
1g.77918184A>GCA340886549NEXNc.358A>G (p.Arg120Gly)
c.166A>G (p.Arg56Gly)
c.57A>G
1g.77918184A>TCA340886550NEXNc.358A>T (p.Arg120Ter)
c.166A>T (p.Arg56Ter)
c.57A>T
1g.77918185G>ACA340886551NEXNc.359G>A (p.Arg120Lys)
c.167G>A (p.Arg56Lys)
c.58G>A
1g.77918185G>CCA340886553NEXNc.359G>C (p.Arg120Thr)
c.167G>C (p.Arg56Thr)
c.58G>C
1g.77918185G>TCA340886552NEXNc.359G>T (p.Arg120Ile)
c.167G>T (p.Arg56Ile)
c.58G>T
1g.77918186A>CCA340886554NEXNc.360A>C (p.Arg120Ser)
c.168A>C (p.Arg56Ser)
c.59A>C
1g.77918186A>GCA418709198NEXNc.360A>G (p.Arg120=)
c.168A>G (p.Arg56=)
c.59A>G
1g.77918186A>TCA340886555NEXNc.360A>T (p.Arg120Ser)
c.168A>T (p.Arg56Ser)
c.59A>T
1g.77918187A>CCA340886556NEXNc.361A>C (p.Thr121Pro)
c.169A>C (p.Thr57Pro)
c.60A>C
1g.77918187A>GCA340886557NEXNc.361A>G (p.Thr121Ala)
c.169A>G (p.Thr57Ala)
c.60A>G
1g.77918187A>TCA340886558NEXNc.361A>T (p.Thr121Ser)
c.169A>T (p.Thr57Ser)
c.60A>T
1g.77918188C>ACA340886559NEXNc.362C>A (p.Thr121Lys)
c.170C>A (p.Thr57Lys)
c.61C>A
 ClinVar gnomAD v4
1g.77918188C=CA1177620343NEXNc.362C= (p.Thr121=)
c.170C= (p.Thr57=)
c.61C=
1g.77918188C>GCA340886560NEXNc.362C>G (p.Thr121Arg)
c.170C>G (p.Thr57Arg)
c.61C>G
1g.77918188C>TCA918624NEXNc.362C>T (p.Thr121Met)
c.170C>T (p.Thr57Met)
c.61C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.77918189G>ACA142155NEXNc.363G>A (p.Thr121=)
c.171G>A (p.Thr57=)
c.62G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918189G>CCA418709201NEXNc.363G>C (p.Thr121=)
c.171G>C (p.Thr57=)
c.62G>C
1g.77918189G=CA1140555170NEXNc.363G= (p.Thr121=)
c.171G= (p.Thr57=)
c.62G=
1g.77918189G>TCA418709204NEXNc.363G>T (p.Thr121=)
c.171G>T (p.Thr57=)
c.62G>T
1g.77918190G>ACA340886561NEXNc.364G>A (p.Glu122Lys)
c.172G>A (p.Glu58Lys)
c.63G>A
1g.77918190G>CCA918625NEXNc.364G>C (p.Glu122Gln)
c.172G>C (p.Glu58Gln)
c.63G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918190G=CA1148888718NEXNc.364G= (p.Glu122=)
c.172G= (p.Glu58=)
c.63G=
1g.77918190G>TCA340886562NEXNc.364G>T (p.Glu122Ter)
c.172G>T (p.Glu58Ter)
c.63G>T
1g.77918191A>CCA340886564NEXNc.365A>C (p.Glu122Ala)
c.173A>C (p.Glu58Ala)
c.64A>C
1g.77918191A>GCA340886565NEXNc.365A>G (p.Glu122Gly)
c.173A>G (p.Glu58Gly)
c.64A>G
1g.77918191A>TCA340886563NEXNc.365A>T (p.Glu122Val)
c.173A>T (p.Glu58Val)
c.64A>T
1g.77918192G>ACA418709205NEXNc.366G>A (p.Glu122=)
c.174G>A (p.Glu58=)
c.65G>A
1g.77918192G>CCA340886567NEXNc.366G>C (p.Glu122Asp)
c.174G>C (p.Glu58Asp)
c.65G>C
1g.77918192G>TCA340886566NEXNc.366G>T (p.Glu122Asp)
c.174G>T (p.Glu58Asp)
c.65G>T
1g.77918193G>ACA340886568NEXNc.367G>A (p.Glu123Lys)
c.175G>A (p.Glu59Lys)
c.66G>A
 gnomAD v4 COSMIC COSMIC
1g.77918193G>CCA340886569NEXNc.367G>C (p.Glu123Gln)
c.175G>C (p.Glu59Gln)
c.66G>C
1g.77918193G>TCA340886570NEXNc.367G>T (p.Glu123Ter)
c.175G>T (p.Glu59Ter)
c.66G>T
1g.77918194A=CA1177620344NEXNc.368A= (p.Glu123=)
c.176A= (p.Glu59=)
c.67A=
1g.77918194A>CCA340886571NEXNc.368A>C (p.Glu123Ala)
c.176A>C (p.Glu59Ala)
c.67A>C
1g.77918194A>GCA340886572NEXNc.368A>G (p.Glu123Gly)
c.176A>G (p.Glu59Gly)
c.67A>G
1g.77918194A>TCA24705420NEXNc.368A>T (p.Glu123Val)
c.176A>T (p.Glu59Val)
c.67A>T
 dbSNP
1g.77918195G>ACA418709211NEXNc.369G>A (p.Glu123=)
c.177G>A (p.Glu59=)
c.68G>A
1g.77918195G>CCA340886573NEXNc.369G>C (p.Glu123Asp)
c.177G>C (p.Glu59Asp)
c.68G>C
1g.77918195G>TCA340886574NEXNc.369G>T (p.Glu123Asp)
c.177G>T (p.Glu59Asp)
c.68G>T
1g.77918196G>ACA918626NEXNc.370G>A (p.Glu124Lys)
c.178G>A (p.Glu60Lys)
c.69G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918196G>CCA340886575NEXNc.370G>C (p.Glu124Gln)
c.178G>C (p.Glu60Gln)
c.69G>C
1g.77918196G=CA1143882862NEXNc.370G= (p.Glu124=)
c.178G= (p.Glu60=)
c.69G=
1g.77918196G>TCA340886576NEXNc.370G>T (p.Glu124Ter)
c.178G>T (p.Glu60Ter)
c.69G>T
1g.77918197A>CCA340886578NEXNc.371A>C (p.Glu124Ala)
c.179A>C (p.Glu60Ala)
c.70A>C
1g.77918197A>GCA340886579NEXNc.371A>G (p.Glu124Gly)
c.179A>G (p.Glu60Gly)
c.70A>G
1g.77918197A>TCA340886577NEXNc.371A>T (p.Glu124Val)
c.179A>T (p.Glu60Val)
c.70A>T
1g.77918198delCA2646303703NEXNc.372del (p.Glu124AspfsTer11)
c.180del (p.Glu60AspfsTer11)
c.71del
 gnomAD v4
1g.77918198A>CCA340886580NEXNc.372A>C (p.Glu124Asp)
c.180A>C (p.Glu60Asp)
c.71A>C
1g.77918198A>GCA418709217NEXNc.372A>G (p.Glu124=)
c.180A>G (p.Glu60=)
c.71A>G
1g.77918198A>TCA340886581NEXNc.372A>T (p.Glu124Asp)
c.180A>T (p.Glu60Asp)
c.71A>T
1g.77918199C>ACA918627NEXNc.373C>A (p.Arg125=)
c.181C>A (p.Arg61=)
c.72C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.77918199C=CA1177620345NEXNc.373C= (p.Arg125=)
c.181C= (p.Arg61=)
c.72C=
1g.77918199C>GCA340886582NEXNc.373C>G (p.Arg125Gly)
c.181C>G (p.Arg61Gly)
c.72C>G
1g.77918199C>TCA340886583NEXNc.373C>T (p.Arg125Ter)
c.181C>T (p.Arg61Ter)
c.72C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.77918200G>ACA918628NEXNc.374G>A (p.Arg125Gln)
c.182G>A (p.Arg61Gln)
c.73G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.77918200G>CCA340886584NEXNc.374G>C (p.Arg125Pro)
c.182G>C (p.Arg61Pro)
c.73G>C
1g.77918200G=CA1148448917NEXNc.374G= (p.Arg125=)
c.182G= (p.Arg61=)
c.73G=
1g.77918200G>TCA340886585NEXNc.374G>T (p.Arg125Leu)
c.182G>T (p.Arg61Leu)
c.73G>T
1g.77918201A>CCA418709228NEXNc.375A>C (p.Arg125=)
c.183A>C (p.Arg61=)
c.74A>C
1g.77918201A>GCA418709229NEXNc.375A>G (p.Arg125=)
c.183A>G (p.Arg61=)
c.74A>G
1g.77918201A>TCA418709230NEXNc.375A>T (p.Arg125=)
c.183A>T (p.Arg61=)
c.74A>T
1g.77918202A=CA1177620346NEXNc.376A= (p.Lys126=)
c.184A= (p.Lys62=)
c.75A=
1g.77918202A>CCA24705428NEXNc.376A>C (p.Lys126Gln)
c.184A>C (p.Lys62Gln)
c.75A>C
 dbSNP gnomAD v4
1g.77918202A>GCA340886586NEXNc.376A>G (p.Lys126Glu)
c.184A>G (p.Lys62Glu)
c.75A>G
 dbSNP gnomAD v2 gnomAD v4
1g.77918202A>TCA340886587NEXNc.376A>T (p.Lys126Ter)
c.184A>T (p.Lys62Ter)
c.75A>T
1g.77918203A>CCA340886588NEXNc.377A>C (p.Lys126Thr)
c.185A>C (p.Lys62Thr)
c.76A>C
1g.77918203A>GCA340886589NEXNc.377A>G (p.Lys126Arg)
c.185A>G (p.Lys62Arg)
c.76A>G
1g.77918203A>TCA340886590NEXNc.377A>T (p.Lys126Ile)
c.185A>T (p.Lys62Ile)
c.76A>T
1g.77918204A=CA1177620347NEXNc.378A= (p.Lys126=)
c.186A= (p.Lys62=)
c.77A=
1g.77918204A>CCA340886591NEXNc.378A>C (p.Lys126Asn)
c.186A>C (p.Lys62Asn)
c.77A>C
1g.77918204A>GCA24705431NEXNc.378A>G (p.Lys126=)
c.186A>G (p.Lys62=)
c.77A>G
 ClinVar dbSNP
1g.77918204A>TCA340886592NEXNc.378A>T (p.Lys126Asn)
c.186A>T (p.Lys62Asn)
c.77A>T
1g.77918205C>ACA340886593NEXNc.379C>A (p.Arg127Ser)
c.187C>A (p.Arg63Ser)
c.78C>A
1g.77918205C=CA1177620348NEXNc.379C= (p.Arg127=)
c.187C= (p.Arg63=)
c.78C=
1g.77918205C>GCA24705448NEXNc.379C>G (p.Arg127Gly)
c.187C>G (p.Arg63Gly)
c.78C>G
 dbSNP gnomAD v4
1g.77918205C>TCA918629NEXNc.379C>T (p.Arg127Cys)
c.187C>T (p.Arg63Cys)
c.78C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.77918206G>ACA918630NEXNc.380G>A (p.Arg127His)
c.188G>A (p.Arg63His)
c.79G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.77918206G>CCA340886594NEXNc.380G>C (p.Arg127Pro)
c.188G>C (p.Arg63Pro)
c.79G>C
1g.77918206G=CA1177620349NEXNc.380G= (p.Arg127=)
c.188G= (p.Arg63=)
c.79G=
1g.77918206G>TCA340886595NEXNc.380G>T (p.Arg127Leu)
c.188G>T (p.Arg63Leu)
c.79G>T
 gnomAD v4
1g.77918207C>ACA418709238NEXNc.381C>A (p.Arg127=)
c.189C>A (p.Arg63=)
c.80C>A
 ClinVar dbSNP gnomAD v4
1g.77918207C>GCA418709239NEXNc.381C>G (p.Arg127=)
c.189C>G (p.Arg63=)
c.80C>G
1g.77918207C>TCA418709240NEXNc.381C>T (p.Arg127=)
c.189C>T (p.Arg63=)
c.80C>T
 gnomAD v4
1g.77918208A>CCA418709241NEXNc.382A>C (p.Arg128=)
c.190A>C (p.Arg64=)
c.81A>C
1g.77918208A>GCA340886596NEXNc.382A>G (p.Arg128Gly)
c.190A>G (p.Arg64Gly)
c.81A>G
1g.77918208A>TCA340886597NEXNc.382A>T (p.Arg128Ter)
c.190A>T (p.Arg64Ter)
c.81A>T
1g.77918209G>ACA340886889NEXNc.383G>A (p.Arg128Lys)
c.191G>A (p.Arg64Lys)
c.82G>A
1g.77918209G>CCA340886894NEXNc.383G>C (p.Arg128Thr)
c.191G>C (p.Arg64Thr)
c.82G>C
1g.77918209G>TCA340886895NEXNc.383G>T (p.Arg128Ile)
c.191G>T (p.Arg64Ile)
c.82G>T
1g.77918210A>CCA340886896NEXNc.384A>C (p.Arg128Ser)
c.192A>C (p.Arg64Ser)
c.83A>C
1g.77918210A>GCA418571111NEXNc.384A>G (p.Arg128=)
c.192A>G (p.Arg64=)
c.83A>G
1g.77918210A>TCA340886897NEXNc.384A>T (p.Arg128Ser)
c.192A>T (p.Arg64Ser)
c.83A>T
1g.77918211A>CCA340886906NEXNc.385A>C (p.Ile129Leu)
c.193A>C (p.Ile65Leu)
c.84A>C
1g.77918211A>GCA340886898NEXNc.385A>G (p.Ile129Val)
c.193A>G (p.Ile65Val)
c.84A>G
1g.77918211A>TCA340886903NEXNc.385A>T (p.Ile129Phe)
c.193A>T (p.Ile65Phe)
c.84A>T
1g.77918212T>ACA340886908NEXNc.386T>A (p.Ile129Asn)
c.194T>A (p.Ile65Asn)
c.85T>A
1g.77918212T>CCA340886910NEXNc.386T>C (p.Ile129Thr)
c.194T>C (p.Ile65Thr)
c.85T>C
 dbSNP
1g.77918212T>GCA340886915NEXNc.386T>G (p.Ile129Ser)
c.194T>G (p.Ile65Ser)
c.85T>G
1g.77918212T=CA1177620350NEXNc.386T= (p.Ile129=)
c.194T= (p.Ile65=)
c.85T=
1g.77918213T>ACA24705455NEXNc.387T>A (p.Ile129=)
c.195T>A (p.Ile65=)
c.86T>A
 dbSNP
1g.77918213T>CCA418571112NEXNc.387T>C (p.Ile129=)
c.195T>C (p.Ile65=)
c.86T>C
1g.77918213T>GCA340886919NEXNc.387T>G (p.Ile129Met)
c.195T>G (p.Ile65Met)
c.86T>G
1g.77918213T=CA1177620351NEXNc.387T= (p.Ile129=)
c.195T= (p.Ile65=)
c.86T=
1g.77918214G>ACA340886922NEXNc.388G>A (p.Glu130Lys)
c.196G>A (p.Glu66Lys)
c.87G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.77918214G>CCA340886924NEXNc.388G>C (p.Glu130Gln)
c.196G>C (p.Glu66Gln)
c.87G>C
1g.77918214G=CA1177620352NEXNc.388G= (p.Glu130=)
c.196G= (p.Glu66=)
c.87G=
1g.77918214G>TCA340886926NEXNc.388G>T (p.Glu130Ter)
c.196G>T (p.Glu66Ter)
c.87G>T
 COSMIC

Number of alleles fetched