Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.99861524T>ACA341328972AGLc.104T>A (p.Leu35Ter)
n.315T>A
c.56T>A (p.Leu19Ter)
c.53T>A (p.Leu18Ter)
1g.99861524T>CCA341328976AGLc.104T>C (p.Leu35Ser)
n.315T>C
c.56T>C (p.Leu19Ser)
c.53T>C (p.Leu18Ser)
1g.99861524T>GCA16040820AGLc.104T>G (p.Leu35Ter)
n.315T>G
c.56T>G (p.Leu19Ter)
c.53T>G (p.Leu18Ter)
 ClinVar dbSNP gnomAD v4
1g.99861524T=CA1183923508AGLc.104T= (p.Leu35=)
n.315T=
c.56T= (p.Leu19=)
c.53T= (p.Leu18=)
1g.99861525A>CCA341328984AGLc.105A>C (p.Leu35Phe)
n.316A>C
c.57A>C (p.Leu19Phe)
c.54A>C (p.Leu18Phe)
1g.99861525A>GCA419093633AGLc.105A>G (p.Leu35=)
n.316A>G
c.57A>G (p.Leu19=)
c.54A>G (p.Leu18=)
1g.99861525A>TCA341328990AGLc.105A>T (p.Leu35Phe)
n.316A>T
c.57A>T (p.Leu19Phe)
c.54A>T (p.Leu18Phe)
1g.99861526G>ACA341328994AGLc.106G>A (p.Gly36Ser)
n.317G>A
c.58G>A (p.Gly20Ser)
c.55G>A (p.Gly19Ser)
 ClinVar dbSNP
1g.99861526G>CCA27560417AGLc.106G>C (p.Gly36Arg)
n.317G>C
c.58G>C (p.Gly20Arg)
c.55G>C (p.Gly19Arg)
 ClinVar dbSNP
1g.99861526G=CA1148427154AGLc.106G= (p.Gly36=)
n.317G=
c.58G= (p.Gly20=)
c.55G= (p.Gly19=)
1g.99861526G>TCA341329008AGLc.106G>T (p.Gly36Cys)
n.317G>T
c.58G>T (p.Gly20Cys)
c.55G>T (p.Gly19Cys)
1g.99861527G>ACA966063AGLc.107G>A (p.Gly36Asp)
n.318G>A
c.59G>A (p.Gly20Asp)
c.56G>A (p.Gly19Asp)
 dbSNP ExAC gnomAD v2
1g.99861527G>CCA341329027AGLc.107G>C (p.Gly36Ala)
n.318G>C
c.59G>C (p.Gly20Ala)
c.56G>C (p.Gly19Ala)
1g.99861527G=CA1148901642AGLc.107G= (p.Gly36=)
n.318G=
c.59G= (p.Gly20=)
c.56G= (p.Gly19=)
1g.99861527G>TCA341329030AGLc.107G>T (p.Gly36Val)
n.318G>T
c.59G>T (p.Gly20Val)
c.56G>T (p.Gly19Val)
1g.99861528C>ACA419093647AGLc.108C>A (p.Gly36=)
n.319C>A
c.60C>A (p.Gly20=)
c.57C>A (p.Gly19=)
1g.99861528C=CA1143969877AGLc.108C= (p.Gly36=)
n.319C=
c.60C= (p.Gly20=)
c.57C= (p.Gly19=)
1g.99861528C>GCA419093648AGLc.108C>G (p.Gly36=)
n.319C>G
c.60C>G (p.Gly20=)
c.57C>G (p.Gly19=)
1g.99861528C>TCA966064AGLc.108C>T (p.Gly36=)
n.319C>T
c.60C>T (p.Gly20=)
c.57C>T (p.Gly19=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99861529C>ACA341329033AGLc.109C>A (p.Pro37Thr)
n.320C>A
c.61C>A (p.Pro21Thr)
c.58C>A (p.Pro20Thr)
1g.99861529C>GCA341329037AGLc.109C>G (p.Pro37Ala)
n.320C>G
c.61C>G (p.Pro21Ala)
c.58C>G (p.Pro20Ala)
1g.99861529C>TCA341329031AGLc.109C>T (p.Pro37Ser)
n.320C>T
c.61C>T (p.Pro21Ser)
c.58C>T (p.Pro20Ser)
1g.99861530C>ACA341329040AGLc.110C>A (p.Pro37Gln)
n.321C>A
c.62C>A (p.Pro21Gln)
c.59C>A (p.Pro20Gln)
1g.99861530C>GCA341329047AGLc.110C>G (p.Pro37Arg)
n.321C>G
c.62C>G (p.Pro21Arg)
c.59C>G (p.Pro20Arg)
1g.99861530C>TCA341329050AGLc.110C>T (p.Pro37Leu)
n.321C>T
c.62C>T (p.Pro21Leu)
c.59C>T (p.Pro20Leu)
1g.99861531A=CA1183923512AGLc.111A= (p.Pro37=)
n.322A=
c.63A= (p.Pro21=)
c.60A= (p.Pro20=)
1g.99861531A>CCA419093660AGLc.111A>C (p.Pro37=)
n.322A>C
c.63A>C (p.Pro21=)
c.60A>C (p.Pro20=)
 dbSNP gnomAD v4
1g.99861531A>GCA966065AGLc.111A>G (p.Pro37=)
n.322A>G
c.63A>G (p.Pro21=)
c.60A>G (p.Pro20=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99861531A>TCA419093661AGLc.111A>T (p.Pro37=)
n.322A>T
c.63A>T (p.Pro21=)
c.60A>T (p.Pro20=)
 dbSNP gnomAD v2 gnomAD v4
1g.99861532A=CA1140563366AGLc.112A= (p.Thr38=)
n.323A=
c.64A= (p.Thr22=)
c.61A= (p.Thr21=)
1g.99861532A>CCA341329058AGLc.112A>C (p.Thr38Pro)
n.323A>C
c.64A>C (p.Thr22Pro)
c.61A>C (p.Thr21Pro)
 dbSNP gnomAD v2
1g.99861532A>GCA966066AGLc.112A>G (p.Thr38Ala)
n.323A>G
c.64A>G (p.Thr22Ala)
c.61A>G (p.Thr21Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99861532A>TCA341329061AGLc.112A>T (p.Thr38Ser)
n.323A>T
c.64A>T (p.Thr22Ser)
c.61A>T (p.Thr21Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99861533C>ACA341329063AGLc.113C>A (p.Thr38Asn)
n.324C>A
c.65C>A (p.Thr22Asn)
c.62C>A (p.Thr21Asn)
 dbSNP
1g.99861533C=CA1183923515AGLc.113C= (p.Thr38=)
n.324C=
c.65C= (p.Thr22=)
c.62C= (p.Thr21=)
1g.99861533C>GCA341329065AGLc.113C>G (p.Thr38Ser)
n.324C>G
c.65C>G (p.Thr22Ser)
c.62C>G (p.Thr21Ser)
 ClinVar dbSNP
1g.99861533C>TCA341329066AGLc.113C>T (p.Thr38Ile)
n.324C>T
c.65C>T (p.Thr22Ile)
c.62C>T (p.Thr21Ile)
 gnomAD v4
1g.99861534T>ACA419093668AGLc.114T>A (p.Thr38=)
n.325T>A
c.66T>A (p.Thr22=)
c.63T>A (p.Thr21=)
1g.99861534T>CCA419093670AGLc.114T>C (p.Thr38=)
n.325T>C
c.66T>C (p.Thr22=)
c.63T>C (p.Thr21=)
1g.99861534T>GCA419093671AGLc.114T>G (p.Thr38=)
n.325T>G
c.66T>G (p.Thr22=)
c.63T>G (p.Thr21=)
1g.99861535T>ACA27560453AGLc.115T>A (p.Leu39Ile)
n.326T>A
c.67T>A (p.Leu23Ile)
c.64T>A (p.Leu22Ile)
 dbSNP gnomAD v3 gnomAD v4
1g.99861535T>CCA419093675AGLc.115T>C (p.Leu39=)
n.326T>C
c.67T>C (p.Leu23=)
c.64T>C (p.Leu22=)
1g.99861535T>GCA341329067AGLc.115T>G (p.Leu39Val)
n.326T>G
c.67T>G (p.Leu23Val)
c.64T>G (p.Leu22Val)
1g.99861535T=CA1183923517AGLc.115T= (p.Leu39=)
n.326T=
c.67T= (p.Leu23=)
c.64T= (p.Leu22=)
1g.99861536T>ACA341329073AGLc.116T>A (p.Leu39Ter)
n.327T>A
c.68T>A (p.Leu23Ter)
c.65T>A (p.Leu22Ter)
1g.99861536T>CCA341329075AGLc.116T>C (p.Leu39Ser)
n.327T>C
c.68T>C (p.Leu23Ser)
c.65T>C (p.Leu22Ser)
 gnomAD v4
1g.99861536T>GCA341329070AGLc.116T>G (p.Leu39Ter)
n.327T>G
c.68T>G (p.Leu23Ter)
c.65T>G (p.Leu22Ter)
1g.99861537A=CA1183923518AGLc.117A= (p.Leu39=)
n.328A=
c.69A= (p.Leu23=)
c.66A= (p.Leu22=)
1g.99861537A>CCA341329076AGLc.117A>C (p.Leu39Phe)
n.328A>C
c.69A>C (p.Leu23Phe)
c.66A>C (p.Leu22Phe)
1g.99861537A>GCA27560468AGLc.117A>G (p.Leu39=)
n.328A>G
c.69A>G (p.Leu23=)
c.66A>G (p.Leu22=)
 ClinVar dbSNP gnomAD v2
1g.99861537A>TCA341329085AGLc.117A>T (p.Leu39Phe)
n.328A>T
c.69A>T (p.Leu23Phe)
c.66A>T (p.Leu22Phe)
1g.99861538C>ACA341329088AGLc.118C>A (p.Gln40Lys)
n.329C>A
c.70C>A (p.Gln24Lys)
c.67C>A (p.Gln23Lys)
1g.99861538C=CA1183923520AGLc.118C= (p.Gln40=)
n.329C=
c.70C= (p.Gln24=)
c.67C= (p.Gln23=)
1g.99861538C>GCA341329091AGLc.118C>G (p.Gln40Glu)
n.329C>G
c.70C>G (p.Gln24Glu)
c.67C>G (p.Gln23Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.99861538C>TCA274315AGLc.118C>T (p.Gln40Ter)
n.329C>T
c.70C>T (p.Gln24Ter)
c.67C>T (p.Gln23Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99861539A=CA1183923524AGLc.119A= (p.Gln40=)
n.330A=
c.71A= (p.Gln24=)
c.68A= (p.Gln23=)
1g.99861539A>CCA341329098AGLc.119A>C (p.Gln40Pro)
n.330A>C
c.71A>C (p.Gln24Pro)
c.68A>C (p.Gln23Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99861539A>GCA341329096AGLc.119A>G (p.Gln40Arg)
n.330A>G
c.71A>G (p.Gln24Arg)
c.68A>G (p.Gln23Arg)
 dbSNP gnomAD v4
1g.99861539A>TCA341329094AGLc.119A>T (p.Gln40Leu)
n.330A>T
c.71A>T (p.Gln24Leu)
c.68A>T (p.Gln23Leu)
1g.99861540G>ACA966067AGLc.120G>A (p.Gln40=)
n.331G>A
c.72G>A (p.Gln24=)
c.69G>A (p.Gln23=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99861540G>CCA341329102AGLc.120G>C (p.Gln40His)
n.331G>C
c.72G>C (p.Gln24His)
c.69G>C (p.Gln23His)
 gnomAD v4
1g.99861540G=CA1143809810AGLc.120G= (p.Gln40=)
n.331G=
c.72G= (p.Gln24=)
c.69G= (p.Gln23=)
1g.99861540G>TCA341329103AGLc.120G>T (p.Gln40His)
n.331G>T
c.72G>T (p.Gln24His)
c.69G>T (p.Gln23His)
1g.99861541G>ACA341329104AGLc.121G>A (p.Gly41Arg)
n.332G>A
c.73G>A (p.Gly25Arg)
c.70G>A (p.Gly24Arg)
1g.99861541G>CCA341329107AGLc.121G>C (p.Gly41Arg)
n.332G>C
c.73G>C (p.Gly25Arg)
c.70G>C (p.Gly24Arg)
1g.99861541G=CA1183923528AGLc.121G= (p.Gly41=)
n.332G=
c.73G= (p.Gly25=)
c.70G= (p.Gly24=)
1g.99861541G>TCA341329109AGLc.121G>T (p.Gly41Ter)
n.332G>T
c.73G>T (p.Gly25Ter)
c.70G>T (p.Gly24Ter)
 ClinVar dbSNP
1g.99861542G>ACA341329115AGLc.122G>A (p.Gly41Glu)
n.333G>A
c.74G>A (p.Gly25Glu)
c.71G>A (p.Gly24Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99861542G>CCA341329113AGLc.122G>C (p.Gly41Ala)
n.333G>C
c.74G>C (p.Gly25Ala)
c.71G>C (p.Gly24Ala)
 gnomAD v4
1g.99861542G=CA1183923530AGLc.122G= (p.Gly41=)
n.333G=
c.74G= (p.Gly25=)
c.71G= (p.Gly24=)
1g.99861542G>TCA341329111AGLc.122G>T (p.Gly41Val)
n.333G>T
c.74G>T (p.Gly25Val)
c.71G>T (p.Gly24Val)
1g.99861543A>CCA419093703AGLc.123A>C (p.Gly41=)
n.334A>C
c.75A>C (p.Gly25=)
c.72A>C (p.Gly24=)
1g.99861543A>GCA419093705AGLc.123A>G (p.Gly41=)
n.334A>G
c.75A>G (p.Gly25=)
c.72A>G (p.Gly24=)
 gnomAD v4
1g.99861543A>TCA419093707AGLc.123A>T (p.Gly41=)
n.334A>T
c.75A>T (p.Gly25=)
c.72A>T (p.Gly24=)
1g.99861544A>CCA341329119AGLc.124A>C (p.Lys42Gln)
n.335A>C
c.76A>C (p.Lys26Gln)
c.73A>C (p.Lys25Gln)
1g.99861544A>GCA341329136AGLc.124A>G (p.Lys42Glu)
n.335A>G
c.76A>G (p.Lys26Glu)
c.73A>G (p.Lys25Glu)
1g.99861544A>TCA341329133AGLc.124A>T (p.Lys42Ter)
n.335A>T
c.76A>T (p.Lys26Ter)
c.73A>T (p.Lys25Ter)
1g.99861545A=CA1183923532AGLc.125A= (p.Lys42=)
n.336A=
c.77A= (p.Lys26=)
c.74A= (p.Lys25=)
1g.99861545A>CCA341329138AGLc.125A>C (p.Lys42Thr)
n.336A>C
c.77A>C (p.Lys26Thr)
c.74A>C (p.Lys25Thr)
1g.99861545A>GCA341329140AGLc.125A>G (p.Lys42Arg)
n.336A>G
c.77A>G (p.Lys26Arg)
c.74A>G (p.Lys25Arg)
 dbSNP
1g.99861545A>TCA341329139AGLc.125A>T (p.Lys42Ile)
n.336A>T
c.77A>T (p.Lys26Ile)
c.74A>T (p.Lys25Ile)
1g.99861546A>CCA341329142AGLc.126A>C (p.Lys42Asn)
n.337A>C
c.78A>C (p.Lys26Asn)
c.75A>C (p.Lys25Asn)
1g.99861546A>GCA419093716AGLc.126A>G (p.Lys42=)
n.337A>G
c.78A>G (p.Lys26=)
c.75A>G (p.Lys25=)
1g.99861546A>TCA341329144AGLc.126A>T (p.Lys42Asn)
n.337A>T
c.78A>T (p.Lys26Asn)
c.75A>T (p.Lys25Asn)
1g.99861547G>ACA341329146AGLc.127G>A (p.Ala43Thr)
n.338G>A
c.79G>A (p.Ala27Thr)
c.76G>A (p.Ala26Thr)
1g.99861547G>CCA341329147AGLc.127G>C (p.Ala43Pro)
n.338G>C
c.79G>C (p.Ala27Pro)
c.76G>C (p.Ala26Pro)
1g.99861547G>TCA341329150AGLc.127G>T (p.Ala43Ser)
n.338G>T
c.79G>T (p.Ala27Ser)
c.76G>T (p.Ala26Ser)
1g.99861548C>ACA341329153AGLc.128C>A (p.Ala43Glu)
n.339C>A
c.80C>A (p.Ala27Glu)
c.77C>A (p.Ala26Glu)
1g.99861548C=CA1183923533AGLc.128C= (p.Ala43=)
n.339C=
c.80C= (p.Ala27=)
c.77C= (p.Ala26=)
1g.99861548C>GCA341329155AGLc.128C>G (p.Ala43Gly)
n.339C>G
c.80C>G (p.Ala27Gly)
c.77C>G (p.Ala26Gly)
 dbSNP gnomAD v3 gnomAD v4
1g.99861548C>TCA341329157AGLc.128C>T (p.Ala43Val)
n.339C>T
c.80C>T (p.Ala27Val)
c.77C>T (p.Ala26Val)
1g.99861549A=CA1183923535AGLc.129A= (p.Ala43=)
n.340A=
c.81A= (p.Ala27=)
c.78A= (p.Ala26=)
1g.99861549A>CCA419093730AGLc.129A>C (p.Ala43=)
n.340A>C
c.81A>C (p.Ala27=)
c.78A>C (p.Ala26=)
 gnomAD v4
1g.99861549A>GCA966068AGLc.129A>G (p.Ala43=)
n.340A>G
c.81A>G (p.Ala27=)
c.78A>G (p.Ala26=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99861549A>TCA419093734AGLc.129A>T (p.Ala43=)
n.340A>T
c.81A>T (p.Ala27=)
c.78A>T (p.Ala26=)
1g.99861550G>ACA341329162AGLc.130G>A (p.Val44Ile)
n.341G>A
c.82G>A (p.Val28Ile)
c.79G>A (p.Val27Ile)
1g.99861550G>CCA341329164AGLc.130G>C (p.Val44Leu)
n.341G>C
c.82G>C (p.Val28Leu)
c.79G>C (p.Val27Leu)
1g.99861550G>TCA341329166AGLc.130G>T (p.Val44Phe)
n.341G>T
c.82G>T (p.Val28Phe)
c.79G>T (p.Val27Phe)
1g.99861551T>ACA341329169AGLc.131T>A (p.Val44Asp)
n.342T>A
c.83T>A (p.Val28Asp)
c.80T>A (p.Val27Asp)
1g.99861551T>CCA341329171AGLc.131T>C (p.Val44Ala)
n.342T>C
c.83T>C (p.Val28Ala)
c.80T>C (p.Val27Ala)
1g.99861551T>GCA966069AGLc.131T>G (p.Val44Gly)
n.342T>G
c.83T>G (p.Val28Gly)
c.80T>G (p.Val27Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99861551T=CA1183923536AGLc.131T= (p.Val44=)
n.342T=
c.83T= (p.Val28=)
c.80T= (p.Val27=)
1g.99861552T>ACA419093742AGLc.132T>A (p.Val44=)
n.343T>A
c.84T>A (p.Val28=)
c.81T>A (p.Val27=)
 dbSNP gnomAD v2 gnomAD v4
1g.99861552T>CCA419093745AGLc.132T>C (p.Val44=)
n.343T>C
c.84T>C (p.Val28=)
c.81T>C (p.Val27=)
 dbSNP
1g.99861552T>GCA419093747AGLc.132T>G (p.Val44=)
n.343T>G
c.84T>G (p.Val28=)
c.81T>G (p.Val27=)
1g.99861552T=CA1183923537AGLc.132T= (p.Val44=)
n.343T=
c.84T= (p.Val28=)
c.81T= (p.Val27=)
1g.99861553A>CCA341329176AGLc.133A>C (p.Thr45Pro)
n.344A>C
c.85A>C (p.Thr29Pro)
c.82A>C (p.Thr28Pro)
1g.99861553A>GCA341329180AGLc.133A>G (p.Thr45Ala)
n.344A>G
c.85A>G (p.Thr29Ala)
c.82A>G (p.Thr28Ala)
1g.99861553A>TCA341329178AGLc.133A>T (p.Thr45Ser)
n.344A>T
c.85A>T (p.Thr29Ser)
c.82A>T (p.Thr28Ser)
1g.99861553dupCA2580063488AGLc.133dup (p.Thr45AsnfsTer14)
n.344dup
c.85dup (p.Thr29AsnfsTer14)
c.82dup (p.Thr28AsnfsTer14)
 ClinVar gnomAD v4
1g.99861554C>ACA341329182AGLc.134C>A (p.Thr45Asn)
n.345C>A
c.86C>A (p.Thr29Asn)
c.83C>A (p.Thr28Asn)
1g.99861554C>GCA341329186AGLc.134C>G (p.Thr45Ser)
n.345C>G
c.86C>G (p.Thr29Ser)
c.83C>G (p.Thr28Ser)
 gnomAD v4
1g.99861554C>TCA341329188AGLc.134C>T (p.Thr45Ile)
n.345C>T
c.86C>T (p.Thr29Ile)
c.83C>T (p.Thr28Ile)
1g.99861555C>ACA419093757AGLc.135C>A (p.Thr45=)
n.346C>A
c.87C>A (p.Thr29=)
c.84C>A (p.Thr28=)
1g.99861555C=CA1183923540AGLc.135C= (p.Thr45=)
n.346C=
c.87C= (p.Thr29=)
c.84C= (p.Thr28=)
1g.99861555C>GCA27560492AGLc.135C>G (p.Thr45=)
n.346C>G
c.87C>G (p.Thr29=)
c.84C>G (p.Thr28=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99861555C>TCA966070AGLc.135C>T (p.Thr45=)
n.346C>T
c.87C>T (p.Thr29=)
c.84C>T (p.Thr28=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.99861556G>ACA966072AGLc.136G>A (p.Val46Met)
n.347G>A
c.88G>A (p.Val30Met)
c.85G>A (p.Val29Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.99861556G>CCA27560501AGLc.136G>C (p.Val46Leu)
n.347G>C
c.88G>C (p.Val30Leu)
c.85G>C (p.Val29Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99861556G=CA1183923544AGLc.136G= (p.Val46=)
n.347G=
c.88G= (p.Val30=)
c.85G= (p.Val29=)
1g.99861556G>TCA966071AGLc.136G>T (p.Val46Leu)
n.347G>T
c.88G>T (p.Val30Leu)
c.85G>T (p.Val29Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99861557T>ACA341329198AGLc.137T>A (p.Val46Glu)
n.348T>A
c.89T>A (p.Val30Glu)
c.86T>A (p.Val29Glu)
1g.99861557T>CCA341329200AGLc.137T>C (p.Val46Ala)
n.348T>C
c.89T>C (p.Val30Ala)
c.86T>C (p.Val29Ala)
1g.99861557T>GCA341329202AGLc.137T>G (p.Val46Gly)
n.348T>G
c.89T>G (p.Val30Gly)
c.86T>G (p.Val29Gly)
1g.99861558G>ACA419093771AGLc.138G>A (p.Val46=)
n.349G>A
c.90G>A (p.Val30=)
c.87G>A (p.Val29=)
 dbSNP
1g.99861558G>CCA419093773AGLc.138G>C (p.Val46=)
n.349G>C
c.90G>C (p.Val30=)
c.87G>C (p.Val29=)
1g.99861558G=CA1183923548AGLc.138G= (p.Val46=)
n.349G=
c.90G= (p.Val30=)
c.87G= (p.Val29=)
1g.99861558G>TCA419093775AGLc.138G>T (p.Val46=)
n.349G>T
c.90G>T (p.Val30=)
c.87G>T (p.Val29=)
1g.99861559T>ACA341329207AGLc.139T>A (p.Tyr47Asn)
n.350T>A
c.91T>A (p.Tyr31Asn)
c.88T>A (p.Tyr30Asn)
1g.99861559T>CCA341329206AGLc.139T>C (p.Tyr47His)
n.350T>C
c.91T>C (p.Tyr31His)
c.88T>C (p.Tyr30His)
1g.99861559T>GCA341329204AGLc.139T>G (p.Tyr47Asp)
n.350T>G
c.91T>G (p.Tyr31Asp)
c.88T>G (p.Tyr30Asp)
1g.99861559T=CA1183923550AGLc.139T= (p.Tyr47=)
n.350T=
c.91T= (p.Tyr31=)
c.88T= (p.Tyr30=)
1g.99861560A>CCA341329208AGLc.140A>C (p.Tyr47Ser)
n.351A>C
c.92A>C (p.Tyr31Ser)
c.89A>C (p.Tyr30Ser)
1g.99861560A>GCA341329209AGLc.140A>G (p.Tyr47Cys)
n.351A>G
c.92A>G (p.Tyr31Cys)
c.89A>G (p.Tyr30Cys)
1g.99861560A>TCA341329211AGLc.140A>T (p.Tyr47Phe)
n.351A>T
c.92A>T (p.Tyr31Phe)
c.89A>T (p.Tyr30Phe)
1g.99861560dupCA16040821AGLc.140dup (p.Tyr47Ter)
n.351dup
c.92dup (p.Tyr31Ter)
c.89dup (p.Tyr30Ter)
 ClinVar dbSNP
1g.99861561T>ACA341329214AGLc.141T>A (p.Tyr47Ter)
n.352T>A
c.93T>A (p.Tyr31Ter)
c.90T>A (p.Tyr30Ter)
1g.99861561T>CCA419093788AGLc.141T>C (p.Tyr47=)
n.352T>C
c.93T>C (p.Tyr31=)
c.90T>C (p.Tyr30=)
 ClinVar dbSNP gnomAD v4
1g.99861561T>GCA341329216AGLc.141T>G (p.Tyr47Ter)
n.352T>G
c.93T>G (p.Tyr31Ter)
c.90T>G (p.Tyr30Ter)
1g.99861561T=CA1183923554AGLc.141T= (p.Tyr47=)
n.352T=
c.93T= (p.Tyr31=)
c.90T= (p.Tyr30=)
1g.99861562A>CCA341329227AGLc.142A>C (p.Thr48Pro)
n.353A>C
c.94A>C (p.Thr32Pro)
c.91A>C (p.Thr31Pro)
1g.99861562A>GCA341329224AGLc.142A>G (p.Thr48Ala)
n.353A>G
c.94A>G (p.Thr32Ala)
c.91A>G (p.Thr31Ala)
 gnomAD v4 COSMIC COSMIC
1g.99861562A>TCA341329221AGLc.142A>T (p.Thr48Ser)
n.353A>T
c.94A>T (p.Thr32Ser)
c.91A>T (p.Thr31Ser)
1g.99861563C>ACA341329230AGLc.143C>A (p.Thr48Lys)
n.354C>A
c.95C>A (p.Thr32Lys)
c.92C>A (p.Thr31Lys)
1g.99861563C>GCA341329234AGLc.143C>G (p.Thr48Arg)
n.354C>G
c.95C>G (p.Thr32Arg)
c.92C>G (p.Thr31Arg)
 gnomAD v4
1g.99861563C>TCA341329236AGLc.143C>T (p.Thr48Ile)
n.354C>T
c.95C>T (p.Thr32Ile)
c.92C>T (p.Thr31Ile)
1g.99861564A>CCA419093794AGLc.144A>C (p.Thr48=)
n.355A>C
c.96A>C (p.Thr32=)
c.93A>C (p.Thr31=)
1g.99861564A>GCA419093796AGLc.144A>G (p.Thr48=)
n.355A>G
c.96A>G (p.Thr32=)
c.93A>G (p.Thr31=)
1g.99861564A>TCA419093797AGLc.144A>T (p.Thr48=)
n.355A>T
c.96A>T (p.Thr32=)
c.93A>T (p.Thr31=)
1g.99861565A=CA1183923556AGLc.145A= (p.Asn49=)
n.356A=
c.97A= (p.Asn33=)
c.94A= (p.Asn32=)
1g.99861565A>CCA341329238AGLc.145A>C (p.Asn49His)
n.356A>C
c.97A>C (p.Asn33His)
c.94A>C (p.Asn32His)
1g.99861565A>GCA966073AGLc.145A>G (p.Asn49Asp)
n.356A>G
c.97A>G (p.Asn33Asp)
c.94A>G (p.Asn32Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99861565A>TCA341329243AGLc.145A>T (p.Asn49Tyr)
n.356A>T
c.97A>T (p.Asn33Tyr)
c.94A>T (p.Asn32Tyr)
1g.99861566A>CCA341329246AGLc.146A>C (p.Asn49Thr)
n.357A>C
c.98A>C (p.Asn33Thr)
c.95A>C (p.Asn32Thr)
1g.99861566A>GCA341329250AGLc.146A>G (p.Asn49Ser)
n.357A>G
c.98A>G (p.Asn33Ser)
c.95A>G (p.Asn32Ser)
1g.99861566A>TCA341329248AGLc.146A>T (p.Asn49Ile)
n.357A>T
c.98A>T (p.Asn33Ile)
c.95A>T (p.Asn32Ile)
1g.99861567T>ACA341329251AGLc.147T>A (p.Asn49Lys)
n.358T>A
c.99T>A (p.Asn33Lys)
c.96T>A (p.Asn32Lys)
1g.99861567T>CCA419093807AGLc.147T>C (p.Asn49=)
n.358T>C
c.99T>C (p.Asn33=)
c.96T>C (p.Asn32=)
1g.99861567T>GCA341329252AGLc.147T>G (p.Asn49Lys)
n.358T>G
c.99T>G (p.Asn33Lys)
c.96T>G (p.Asn32Lys)
1g.99861568dupCA2697552538AGLc.148dup (p.Tyr50LeufsTer9)
n.359dup
c.100dup (p.Tyr34LeufsTer9)
c.97dup (p.Tyr33LeufsTer9)
 ClinVar
1g.99861568T>ACA341329254AGLc.148T>A (p.Tyr50Asn)
n.359T>A
c.100T>A (p.Tyr34Asn)
c.97T>A (p.Tyr33Asn)
1g.99861568T>CCA341329256AGLc.148T>C (p.Tyr50His)
n.359T>C
c.100T>C (p.Tyr34His)
c.97T>C (p.Tyr33His)
1g.99861568T>GCA341329258AGLc.148T>G (p.Tyr50Asp)
n.359T>G
c.100T>G (p.Tyr34Asp)
c.97T>G (p.Tyr33Asp)
1g.99861569A>CCA341329261AGLc.149A>C (p.Tyr50Ser)
n.360A>C
c.101A>C (p.Tyr34Ser)
c.98A>C (p.Tyr33Ser)
1g.99861569A>GCA341329262AGLc.149A>G (p.Tyr50Cys)
n.360A>G
c.101A>G (p.Tyr34Cys)
c.98A>G (p.Tyr33Cys)
1g.99861569A>TCA341329263AGLc.149A>T (p.Tyr50Phe)
n.360A>T
c.101A>T (p.Tyr34Phe)
c.98A>T (p.Tyr33Phe)
1g.99861570C>ACA341329264AGLc.150C>A (p.Tyr50Ter)
n.361C>A
c.102C>A (p.Tyr34Ter)
c.99C>A (p.Tyr33Ter)
1g.99861570C>GCA341329265AGLc.150C>G (p.Tyr50Ter)
n.361C>G
c.102C>G (p.Tyr34Ter)
c.99C>G (p.Tyr33Ter)
1g.99861570C>TCA419093820AGLc.150C>T (p.Tyr50=)
n.361C>T
c.102C>T (p.Tyr34=)
c.99C>T (p.Tyr33=)
1g.99861571C>ACA341329272AGLc.151C>A (p.Pro51Thr)
n.362C>A
c.103C>A (p.Pro35Thr)
c.100C>A (p.Pro34Thr)
1g.99861571C=CA1143541103AGLc.151C= (p.Pro51=)
n.362C=
c.103C= (p.Pro35=)
c.100C= (p.Pro34=)
1g.99861571C>GCA341329269AGLc.151C>G (p.Pro51Ala)
n.362C>G
c.103C>G (p.Pro35Ala)
c.100C>G (p.Pro34Ala)
1g.99861571C>TCA966074AGLc.151C>T (p.Pro51Ser)
n.362C>T
c.103C>T (p.Pro35Ser)
c.100C>T (p.Pro34Ser)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
1g.99861572C>ACA341329275AGLc.152C>A (p.Pro51Gln)
n.363C>A
c.104C>A (p.Pro35Gln)
c.101C>A (p.Pro34Gln)
1g.99861572C>GCA341329280AGLc.152C>G (p.Pro51Arg)
n.363C>G
c.104C>G (p.Pro35Arg)
c.101C>G (p.Pro34Arg)
1g.99861572C>TCA341329277AGLc.152C>T (p.Pro51Leu)
n.363C>T
c.104C>T (p.Pro35Leu)
c.101C>T (p.Pro34Leu)
1g.99861573A=CA1183923562AGLc.153A= (p.Pro51=)
n.364A=
c.105A= (p.Pro35=)
c.102A= (p.Pro34=)
1g.99861573A>CCA419093832AGLc.153A>C (p.Pro51=)
n.364A>C
c.105A>C (p.Pro35=)
c.102A>C (p.Pro34=)
1g.99861573A>GCA419093834AGLc.153A>G (p.Pro51=)
n.364A>G
c.105A>G (p.Pro35=)
c.102A>G (p.Pro34=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99861573A>TCA419093836AGLc.153A>T (p.Pro51=)
n.364A>T
c.105A>T (p.Pro35=)
c.102A>T (p.Pro34=)
1g.99861573_99861580delCA2646734544AGLc.153_160del (p.Phe52ArgfsTer4)
n.364_371del
c.105_112del (p.Phe36ArgfsTer4)
c.102_109del (p.Phe35ArgfsTer4)
 gnomAD v4
1g.99861574T>ACA341329283AGLc.154T>A (p.Phe52Ile)
n.365T>A
c.106T>A (p.Phe36Ile)
c.103T>A (p.Phe35Ile)
1g.99861574T>CCA341329286AGLc.154T>C (p.Phe52Leu)
n.365T>C
c.106T>C (p.Phe36Leu)
c.103T>C (p.Phe35Leu)
1g.99861574T>GCA341329288AGLc.154T>G (p.Phe52Val)
n.365T>G
c.106T>G (p.Phe36Val)
c.103T>G (p.Phe35Val)
1g.99861575T>ACA341329291AGLc.155T>A (p.Phe52Tyr)
n.366T>A
c.107T>A (p.Phe36Tyr)
c.104T>A (p.Phe35Tyr)
1g.99861575T>CCA341329292AGLc.155T>C (p.Phe52Ser)
n.366T>C
c.107T>C (p.Phe36Ser)
c.104T>C (p.Phe35Ser)
1g.99861575T>GCA341329296AGLc.155T>G (p.Phe52Cys)
n.366T>G
c.107T>G (p.Phe36Cys)
c.104T>G (p.Phe35Cys)
1g.99861576T>ACA341329297AGLc.156T>A (p.Phe52Leu)
n.367T>A
c.108T>A (p.Phe36Leu)
c.105T>A (p.Phe35Leu)
1g.99861576T>CCA419093849AGLc.156T>C (p.Phe52=)
n.367T>C
c.108T>C (p.Phe36=)
c.105T>C (p.Phe35=)
1g.99861576T>GCA341329298AGLc.156T>G (p.Phe52Leu)
n.367T>G
c.108T>G (p.Phe36Leu)
c.105T>G (p.Phe35Leu)
1g.99861576_99861577delinsTCCA1183923564AGLc.156_157delinsTC (p.Phe52=)
n.367_368delinsTC
c.108_109delinsTC (p.Phe36=)
c.105_106delinsTC (p.Phe35=)
1g.99861577C>ACA341329299AGLc.157C>A (p.Pro53Thr)
n.368C>A
c.109C>A (p.Pro37Thr)
c.106C>A (p.Pro36Thr)
1g.99861577C>GCA341329300AGLc.157C>G (p.Pro53Ala)
n.368C>G
c.109C>G (p.Pro37Ala)
c.106C>G (p.Pro36Ala)
1g.99861577C>TCA341329301AGLc.157C>T (p.Pro53Ser)
n.368C>T
c.109C>T (p.Pro37Ser)
c.106C>T (p.Pro36Ser)
 COSMIC
1g.99861578delCA916082077AGLc.158del (p.Pro53LeufsTer?)
n.369del
c.110del (p.Pro37LeufsTer?)
c.107del (p.Pro36LeufsTer?)
 ClinVar dbSNP
1g.99861578C>ACA341329304AGLc.158C>A (p.Pro53His)
n.369C>A
c.110C>A (p.Pro37His)
c.107C>A (p.Pro36His)
1g.99861578C>GCA341329303AGLc.158C>G (p.Pro53Arg)
n.369C>G
c.110C>G (p.Pro37Arg)
c.107C>G (p.Pro36Arg)
1g.99861578C>TCA341329302AGLc.158C>T (p.Pro53Leu)
n.369C>T
c.110C>T (p.Pro37Leu)
c.107C>T (p.Pro36Leu)
1g.99861579T>ACA419093862AGLc.159T>A (p.Pro53=)
n.370T>A
c.111T>A (p.Pro37=)
c.108T>A (p.Pro36=)
1g.99861579T>CCA419093863AGLc.159T>C (p.Pro53=)
n.370T>C
c.111T>C (p.Pro37=)
c.108T>C (p.Pro36=)
1g.99861579T>GCA419093865AGLc.159T>G (p.Pro53=)
n.370T>G
c.111T>G (p.Pro37=)
c.108T>G (p.Pro36=)
1g.99861580G>ACA966075AGLc.160G>A (p.Gly54Arg)
n.371G>A
c.112G>A (p.Gly38Arg)
c.109G>A (p.Gly37Arg)
 ClinVar dbSNP ExAC gnomAD v2
1g.99861580G>CCA341329305AGLc.160G>C (p.Gly54Arg)
n.371G>C
c.112G>C (p.Gly38Arg)
c.109G>C (p.Gly37Arg)
1g.99861580G=CA1183923567AGLc.160G= (p.Gly54=)
n.371G=
c.112G= (p.Gly38=)
c.109G= (p.Gly37=)
1g.99861580G>TCA341329306AGLc.160G>T (p.Gly54Ter)
n.371G>T
c.112G>T (p.Gly38Ter)
c.109G>T (p.Gly37Ter)
 gnomAD v4 COSMIC COSMIC
1g.99861581G>ACA341329307AGLc.161G>A (p.Gly54Glu)
n.372G>A
c.113G>A (p.Gly38Glu)
c.110G>A (p.Gly37Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.99861581G>CCA341329308AGLc.161G>C (p.Gly54Ala)
n.372G>C
c.113G>C (p.Gly38Ala)
c.110G>C (p.Gly37Ala)
1g.99861581G=CA1183923568AGLc.161G= (p.Gly54=)
n.372G=
c.113G= (p.Gly38=)
c.110G= (p.Gly37=)
1g.99861581G>TCA341329309AGLc.161G>T (p.Gly54Val)
n.372G>T
c.113G>T (p.Gly38Val)
c.110G>T (p.Gly37Val)
1g.99861582A>CCA419093878AGLc.162A>C (p.Gly54=)
n.373A>C
c.114A>C (p.Gly38=)
c.111A>C (p.Gly37=)
1g.99861582A>GCA419093880AGLc.162A>G (p.Gly54=)
n.373A>G
c.114A>G (p.Gly38=)
c.111A>G (p.Gly37=)
1g.99861582A>TCA419093882AGLc.162A>T (p.Gly54=)
n.373A>T
c.114A>T (p.Gly38=)
c.111A>T (p.Gly37=)
1g.99861583G>ACA341329310AGLc.163G>A (p.Glu55Lys)
n.374G>A
c.115G>A (p.Glu39Lys)
c.112G>A (p.Glu38Lys)
1g.99861583G>CCA341329311AGLc.163G>C (p.Glu55Gln)
n.374G>C
c.115G>C (p.Glu39Gln)
c.112G>C (p.Glu38Gln)
1g.99861583G>TCA341329312AGLc.163G>T (p.Glu55Ter)
n.374G>T
c.115G>T (p.Glu39Ter)
c.112G>T (p.Glu38Ter)
1g.99861584A>CCA341329313AGLc.164A>C (p.Glu55Ala)
n.375A>C
c.116A>C (p.Glu39Ala)
c.113A>C (p.Glu38Ala)
1g.99861584A>GCA341329314AGLc.164A>G (p.Glu55Gly)
n.375A>G
c.116A>G (p.Glu39Gly)
c.113A>G (p.Glu38Gly)
1g.99861584A>TCA341329315AGLc.164A>T (p.Glu55Val)
n.375A>T
c.116A>T (p.Glu39Val)
c.113A>T (p.Glu38Val)
 gnomAD v4
1g.99861585A>CCA341329317AGLc.165A>C (p.Glu55Asp)
n.376A>C
c.117A>C (p.Glu39Asp)
c.114A>C (p.Glu38Asp)
1g.99861585A>GCA419093893AGLc.165A>G (p.Glu55=)
n.376A>G
c.117A>G (p.Glu39=)
c.114A>G (p.Glu38=)
1g.99861585A>TCA341329316AGLc.165A>T (p.Glu55Asp)
n.376A>T
c.117A>T (p.Glu39Asp)
c.114A>T (p.Glu38Asp)
1g.99861586A>CCA341329318AGLc.166A>C (p.Thr56Pro)
n.377A>C
c.118A>C (p.Thr40Pro)
c.115A>C (p.Thr39Pro)
1g.99861586A>GCA341329319AGLc.166A>G (p.Thr56Ala)
n.377A>G
c.118A>G (p.Thr40Ala)
c.115A>G (p.Thr39Ala)
 COSMIC COSMIC
1g.99861586A>TCA341329320AGLc.166A>T (p.Thr56Ser)
n.377A>T
c.118A>T (p.Thr40Ser)
c.115A>T (p.Thr39Ser)
 gnomAD v4
1g.99861587C>ACA341329321AGLc.167C>A (p.Thr56Lys)
n.378C>A
c.119C>A (p.Thr40Lys)
c.116C>A (p.Thr39Lys)
1g.99861587C>GCA341329322AGLc.167C>G (p.Thr56Arg)
n.378C>G
c.119C>G (p.Thr40Arg)
c.116C>G (p.Thr39Arg)
1g.99861587C>TCA341329323AGLc.167C>T (p.Thr56Ile)
n.378C>T
c.119C>T (p.Thr40Ile)
c.116C>T (p.Thr39Ile)
 gnomAD v4
1g.99861587_99861589delinsCATCA1183923569AGLc.167_169delinsCAT (p.Thr56=)
n.378_380delinsCAT
c.119_121delinsCAT (p.Thr40=)
c.116_118delinsCAT (p.Thr39=)
1g.99861588A=CA1183923573AGLc.168A= (p.Thr56=)
n.379A=
c.120A= (p.Thr40=)
c.117A= (p.Thr39=)
1g.99861588A>CCA419093906AGLc.168A>C (p.Thr56=)
n.379A>C
c.120A>C (p.Thr40=)
c.117A>C (p.Thr39=)
1g.99861588A>GCA966076AGLc.168A>G (p.Thr56=)
n.379A>G
c.120A>G (p.Thr40=)
c.117A>G (p.Thr39=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99861588A>TCA419093905AGLc.168A>T (p.Thr56=)
n.379A>T
c.120A>T (p.Thr40=)
c.117A>T (p.Thr39=)
1g.99861588_99861589delCA741018418AGLc.168_169del (p.Phe57Ter)
n.379_380del
c.120_121del (p.Phe41Ter)
c.117_118del (p.Phe40Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99861588_99861592delinsTTTCA2831039308AGLc.168_172delinsTTT (p.Phe57LeufsTer2)
n.379_383delinsTTT
c.120_124delinsTTT (p.Phe41LeufsTer2)
c.117_121delinsTTT (p.Phe40LeufsTer2)
1g.99861589T>ACA341329324AGLc.169T>A (p.Phe57Ile)
n.380T>A
c.121T>A (p.Phe41Ile)
c.118T>A (p.Phe40Ile)
1g.99861589T>CCA966077AGLc.169T>C (p.Phe57Leu)
n.380T>C
c.121T>C (p.Phe41Leu)
c.118T>C (p.Phe40Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99861589T>GCA341329325AGLc.169T>G (p.Phe57Val)
n.380T>G
c.121T>G (p.Phe41Val)
c.118T>G (p.Phe40Val)
1g.99861589T=CA1183923578AGLc.169T= (p.Phe57=)
n.380T=
c.121T= (p.Phe41=)
c.118T= (p.Phe40=)
1g.99861590T>ACA341329326AGLc.170T>A (p.Phe57Tyr)
n.381T>A
c.122T>A (p.Phe41Tyr)
c.119T>A (p.Phe40Tyr)
1g.99861590T>CCA341329327AGLc.170T>C (p.Phe57Ser)
n.381T>C
c.122T>C (p.Phe41Ser)
c.119T>C (p.Phe40Ser)
1g.99861590T>GCA341329328AGLc.170T>G (p.Phe57Cys)
n.381T>G
c.122T>G (p.Phe41Cys)
c.119T>G (p.Phe40Cys)
1g.99861591T>ACA341329330AGLc.171T>A (p.Phe57Leu)
n.382T>A
c.123T>A (p.Phe41Leu)
c.120T>A (p.Phe40Leu)
1g.99861591T>CCA419093920AGLc.171T>C (p.Phe57=)
n.382T>C
c.123T>C (p.Phe41=)
c.120T>C (p.Phe40=)
1g.99861591T>GCA341329329AGLc.171T>G (p.Phe57Leu)
n.382T>G
c.123T>G (p.Phe41Leu)
c.120T>G (p.Phe40Leu)
1g.99861592A>CCA341329331AGLc.172A>C (p.Asn58His)
n.383A>C
c.124A>C (p.Asn42His)
c.121A>C (p.Asn41His)
1g.99861592A>GCA341329332AGLc.172A>G (p.Asn58Asp)
n.383A>G
c.124A>G (p.Asn42Asp)
c.121A>G (p.Asn41Asp)
1g.99861592A>TCA341329333AGLc.172A>T (p.Asn58Tyr)
n.383A>T
c.124A>T (p.Asn42Tyr)
c.121A>T (p.Asn41Tyr)
1g.99861593A>CCA341329334AGLc.173A>C (p.Asn58Thr)
n.384A>C
c.125A>C (p.Asn42Thr)
c.122A>C (p.Asn41Thr)
1g.99861593A>GCA341329335AGLc.173A>G (p.Asn58Ser)
n.384A>G
c.125A>G (p.Asn42Ser)
c.122A>G (p.Asn41Ser)
1g.99861593A>TCA341329336AGLc.173A>T (p.Asn58Ile)
n.384A>T
c.125A>T (p.Asn42Ile)
c.122A>T (p.Asn41Ile)
1g.99861594T>ACA341329337AGLc.174T>A (p.Asn58Lys)
n.385T>A
c.126T>A (p.Asn42Lys)
c.123T>A (p.Asn41Lys)
1g.99861594T>CCA966078AGLc.174T>C (p.Asn58=)
n.385T>C
c.126T>C (p.Asn42=)
c.123T>C (p.Asn41=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99861594T>GCA341329338AGLc.174T>G (p.Asn58Lys)
n.385T>G
c.126T>G (p.Asn42Lys)
c.123T>G (p.Asn41Lys)
1g.99861594T=CA1183923581AGLc.174T= (p.Asn58=)
n.385T=
c.126T= (p.Asn42=)
c.123T= (p.Asn41=)
1g.99861595delCA2573132738AGLc.175del (p.Arg59GlufsTer?)
n.386del
c.127del (p.Arg43GlufsTer?)
c.124del (p.Arg42GlufsTer?)
 ClinVar dbSNP
1g.99861595A>CCA419093937AGLc.175A>C (p.Arg59=)
n.386A>C
c.127A>C (p.Arg43=)
c.124A>C (p.Arg42=)
1g.99861595A>GCA341329339AGLc.175A>G (p.Arg59Gly)
n.386A>G
c.127A>G (p.Arg43Gly)
c.124A>G (p.Arg42Gly)
1g.99861595A>TCA341329340AGLc.175A>T (p.Arg59Ter)
n.386A>T
c.127A>T (p.Arg43Ter)
c.124A>T (p.Arg42Ter)
1g.99861596G>ACA341329343AGLc.176G>A (p.Arg59Lys)
n.387G>A
c.128G>A (p.Arg43Lys)
c.125G>A (p.Arg42Lys)
1g.99861596G>CCA341329345AGLc.176G>C (p.Arg59Thr)
n.387G>C
c.128G>C (p.Arg43Thr)
c.125G>C (p.Arg42Thr)
1g.99861596G>TCA341329346AGLc.176G>T (p.Arg59Ile)
n.387G>T
c.128G>T (p.Arg43Ile)
c.125G>T (p.Arg42Ile)
1g.99861597A>CCA341329349AGLc.177A>C (p.Arg59Ser)
n.388A>C
c.129A>C (p.Arg43Ser)
c.126A>C (p.Arg42Ser)
1g.99861597A>GCA419093955AGLc.177A>G (p.Arg59=)
n.388A>G
c.129A>G (p.Arg43=)
c.126A>G (p.Arg42=)
 ClinVar dbSNP gnomAD v4
1g.99861597A>TCA341329351AGLc.177A>T (p.Arg59Ser)
n.388A>T
c.129A>T (p.Arg43Ser)
c.126A>T (p.Arg42Ser)
1g.99861598G>ACA341329353AGLc.178G>A (p.Glu60Lys)
n.389G>A
c.130G>A (p.Glu44Lys)
c.127G>A (p.Glu43Lys)
1g.99861598G>CCA341329355AGLc.178G>C (p.Glu60Gln)
n.389G>C
c.130G>C (p.Glu44Gln)
c.127G>C (p.Glu43Gln)
1g.99861598G>TCA341329357AGLc.178G>T (p.Glu60Ter)
n.389G>T
c.130G>T (p.Glu44Ter)
c.127G>T (p.Glu43Ter)
1g.99861598_99861599delinsGACA1183923585AGLc.178_179delinsGA (p.Glu60=)
n.389_390delinsGA
c.130_131delinsGA (p.Glu44=)
c.127_128delinsGA (p.Glu43=)
1g.99861599A>CCA341329360AGLc.179A>C (p.Glu60Ala)
n.390A>C
c.131A>C (p.Glu44Ala)
c.128A>C (p.Glu43Ala)
1g.99861599A>GCA341329365AGLc.179A>G (p.Glu60Gly)
n.390A>G
c.131A>G (p.Glu44Gly)
c.128A>G (p.Glu43Gly)
1g.99861599A>TCA341329366AGLc.179A>T (p.Glu60Val)
n.390A>T
c.131A>T (p.Glu44Val)
c.128A>T (p.Glu43Val)
1g.99861603delCA916245685AGLc.183del (p.Lys61AsnfsTer?)
n.394del
c.135del (p.Lys45AsnfsTer?)
c.132del (p.Lys44AsnfsTer?)
 dbSNP
1g.99861600A>CCA341329369AGLc.180A>C (p.Glu60Asp)
n.391A>C
c.132A>C (p.Glu44Asp)
c.129A>C (p.Glu43Asp)
1g.99861600A>GCA419093965AGLc.180A>G (p.Glu60=)
n.391A>G
c.132A>G (p.Glu44=)
c.129A>G (p.Glu43=)
1g.99861600A>TCA341329370AGLc.180A>T (p.Glu60Asp)
n.391A>T
c.132A>T (p.Glu44Asp)
c.129A>T (p.Glu43Asp)
1g.99861601A>CCA341329371AGLc.181A>C (p.Lys61Gln)
n.392A>C
c.133A>C (p.Lys45Gln)
c.130A>C (p.Lys44Gln)
1g.99861601A>GCA341329375AGLc.181A>G (p.Lys61Glu)
n.392A>G
c.133A>G (p.Lys45Glu)
c.130A>G (p.Lys44Glu)
 gnomAD v4
1g.99861601A>TCA341329372AGLc.181A>T (p.Lys61Ter)
n.392A>T
c.133A>T (p.Lys45Ter)
c.130A>T (p.Lys44Ter)
1g.99861602A=CA1149059777AGLc.182A= (p.Lys61=)
n.393A=
c.134A= (p.Lys45=)
c.131A= (p.Lys44=)
1g.99861602A>CCA966079AGLc.182A>C (p.Lys61Thr)
n.393A>C
c.134A>C (p.Lys45Thr)
c.131A>C (p.Lys44Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99861602A>GCA341329378AGLc.182A>G (p.Lys61Arg)
n.393A>G
c.134A>G (p.Lys45Arg)
c.131A>G (p.Lys44Arg)
1g.99861602A>TCA341329380AGLc.182A>T (p.Lys61Ile)
n.393A>T
c.134A>T (p.Lys45Ile)
c.131A>T (p.Lys44Ile)
1g.99861603A>CCA341329382AGLc.183A>C (p.Lys61Asn)
n.394A>C
c.135A>C (p.Lys45Asn)
c.132A>C (p.Lys44Asn)
1g.99861603A>GCA419093980AGLc.183A>G (p.Lys61=)
n.394A>G
c.135A>G (p.Lys45=)
c.132A>G (p.Lys44=)
1g.99861603A>TCA341329383AGLc.183A>T (p.Lys61Asn)
n.394A>T
c.135A>T (p.Lys45Asn)
c.132A>T (p.Lys44Asn)
1g.99861604T>ACA341329385AGLc.184T>A (p.Phe62Ile)
n.395T>A
c.136T>A (p.Phe46Ile)
c.133T>A (p.Phe45Ile)
 COSMIC COSMIC
1g.99861604T>CCA341329387AGLc.184T>C (p.Phe62Leu)
n.395T>C
c.136T>C (p.Phe46Leu)
c.133T>C (p.Phe45Leu)
1g.99861604T>GCA341329386AGLc.184T>G (p.Phe62Val)
n.395T>G
c.136T>G (p.Phe46Val)
c.133T>G (p.Phe45Val)
1g.99861605T>ACA341329389AGLc.185T>A (p.Phe62Tyr)
n.396T>A
c.137T>A (p.Phe46Tyr)
c.134T>A (p.Phe45Tyr)
1g.99861605T>CCA341329390AGLc.185T>C (p.Phe62Ser)
n.396T>C
c.137T>C (p.Phe46Ser)
c.134T>C (p.Phe45Ser)
1g.99861605T>GCA341329391AGLc.185T>G (p.Phe62Cys)
n.396T>G
c.137T>G (p.Phe46Cys)
c.134T>G (p.Phe45Cys)
1g.99861606C>ACA341329394AGLc.186C>A (p.Phe62Leu)
n.397C>A
c.138C>A (p.Phe46Leu)
c.135C>A (p.Phe45Leu)
 gnomAD v4
1g.99861606C=CA1142103085AGLc.186C= (p.Phe62=)
n.397C=
c.138C= (p.Phe46=)
c.135C= (p.Phe45=)
1g.99861606C>GCA966080AGLc.186C>G (p.Phe62Leu)
n.397C>G
c.138C>G (p.Phe46Leu)
c.135C>G (p.Phe45Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99861606C>TCA27560533AGLc.186C>T (p.Phe62=)
n.397C>T
c.138C>T (p.Phe46=)
c.135C>T (p.Phe45=)
 dbSNP COSMIC COSMIC
1g.99861607delCA2586967065AGLc.187del (p.Arg63ValfsTer?)
n.398del
c.139del (p.Arg47ValfsTer?)
c.136del (p.Arg46ValfsTer?)
1g.99861607C>ACA341329399AGLc.187C>A (p.Arg63Ser)
n.398C>A
c.139C>A (p.Arg47Ser)
c.136C>A (p.Arg46Ser)
1g.99861607C=CA1183923600AGLc.187C= (p.Arg63=)
n.398C=
c.139C= (p.Arg47=)
c.136C= (p.Arg46=)
1g.99861607C>GCA341329400AGLc.187C>G (p.Arg63Gly)
n.398C>G
c.139C>G (p.Arg47Gly)
c.136C>G (p.Arg46Gly)
1g.99861607C>TCA966081AGLc.187C>T (p.Arg63Cys)
n.398C>T
c.139C>T (p.Arg47Cys)
c.136C>T (p.Arg46Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99861608G>ACA966082AGLc.188G>A (p.Arg63His)
n.399G>A
c.140G>A (p.Arg47His)
c.137G>A (p.Arg46His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.99861608G>CCA341329404AGLc.188G>C (p.Arg63Pro)
n.399G>C
c.140G>C (p.Arg47Pro)
c.137G>C (p.Arg46Pro)
1g.99861608G=CA1143385717AGLc.188G= (p.Arg63=)
n.399G=
c.140G= (p.Arg47=)
c.137G= (p.Arg46=)
1g.99861608G>TCA341329406AGLc.188G>T (p.Arg63Leu)
n.399G>T
c.140G>T (p.Arg47Leu)
c.137G>T (p.Arg46Leu)
 gnomAD v4
1g.99861609T>ACA419094004AGLc.189T>A (p.Arg63=)
n.400T>A
c.141T>A (p.Arg47=)
c.138T>A (p.Arg46=)
1g.99861609T>CCA419094008AGLc.189T>C (p.Arg63=)
n.400T>C
c.141T>C (p.Arg47=)
c.138T>C (p.Arg46=)
1g.99861609T>GCA419094006AGLc.189T>G (p.Arg63=)
n.400T>G
c.141T>G (p.Arg47=)
c.138T>G (p.Arg46=)
1g.99861610T>ACA341329412AGLc.190T>A (p.Ser64Thr)
n.401T>A
c.142T>A (p.Ser48Thr)
c.139T>A (p.Ser47Thr)
1g.99861610T>CCA341329408AGLc.190T>C (p.Ser64Pro)
n.401T>C
c.142T>C (p.Ser48Pro)
c.139T>C (p.Ser47Pro)
1g.99861610T>GCA341329410AGLc.190T>G (p.Ser64Ala)
n.401T>G
c.142T>G (p.Ser48Ala)
c.139T>G (p.Ser47Ala)
1g.99861613_99861614delCA2695198080AGLc.193_194del (p.Leu65GlyfsTer11)
n.404_405del
c.145_146del (p.Leu49GlyfsTer11)
c.142_143del (p.Leu48GlyfsTer11)
 ClinVar
1g.99861611C>ACA341329415AGLc.191C>A (p.Ser64Tyr)
n.402C>A
c.143C>A (p.Ser48Tyr)
c.140C>A (p.Ser47Tyr)
 gnomAD v4
1g.99861611C>GCA341329416AGLc.191C>G (p.Ser64Cys)
n.402C>G
c.143C>G (p.Ser48Cys)
c.140C>G (p.Ser47Cys)
1g.99861611C>TCA341329417AGLc.191C>T (p.Ser64Phe)
n.402C>T
c.143C>T (p.Ser48Phe)
c.140C>T (p.Ser47Phe)
1g.99861612T>ACA419094030AGLc.192T>A (p.Ser64=)
n.403T>A
c.144T>A (p.Ser48=)
c.141T>A (p.Ser47=)
1g.99861612T>CCA419094033AGLc.192T>C (p.Ser64=)
n.403T>C
c.144T>C (p.Ser48=)
c.141T>C (p.Ser47=)
1g.99861612T>GCA419094036AGLc.192T>G (p.Ser64=)
n.403T>G
c.144T>G (p.Ser48=)
c.141T>G (p.Ser47=)
1g.99861613C>ACA341329418AGLc.193C>A (p.Leu65Met)
n.404C>A
c.145C>A (p.Leu49Met)
c.142C>A (p.Leu48Met)
1g.99861613C=CA1183923605AGLc.193C= (p.Leu65=)
n.404C=
c.145C= (p.Leu49=)
c.142C= (p.Leu48=)
1g.99861613C>GCA966083AGLc.193C>G (p.Leu65Val)
n.404C>G
c.145C>G (p.Leu49Val)
c.142C>G (p.Leu48Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99861613C>TCA419094042AGLc.193C>T (p.Leu65=)
n.404C>T
c.145C>T (p.Leu49=)
c.142C>T (p.Leu48=)
 ClinVar dbSNP gnomAD v4
1g.99861614T>ACA341329427AGLc.194T>A (p.Leu65Gln)
n.405T>A
c.146T>A (p.Leu49Gln)
c.143T>A (p.Leu48Gln)
1g.99861614T>CCA341329425AGLc.194T>C (p.Leu65Pro)
n.405T>C
c.146T>C (p.Leu49Pro)
c.143T>C (p.Leu48Pro)
 gnomAD v4
1g.99861614T>GCA341329422AGLc.194T>G (p.Leu65Arg)
n.405T>G
c.146T>G (p.Leu49Arg)
c.143T>G (p.Leu48Arg)
1g.99861615G>ACA419094046AGLc.195G>A (p.Leu65=)
n.406G>A
c.147G>A (p.Leu49=)
c.144G>A (p.Leu48=)
 gnomAD v4
1g.99861615G>CCA419094047AGLc.195G>C (p.Leu65=)
n.406G>C
c.147G>C (p.Leu49=)
c.144G>C (p.Leu48=)
1g.99861615G>TCA419094048AGLc.195G>T (p.Leu65=)
n.406G>T
c.147G>T (p.Leu49=)
c.144G>T (p.Leu48=)
 gnomAD v4
1g.99861616G>ACA341329430AGLc.196G>A (p.Asp66Asn)
n.407G>A
c.148G>A (p.Asp50Asn)
c.145G>A (p.Asp49Asn)
1g.99861616G>CCA341329431AGLc.196G>C (p.Asp66His)
n.407G>C
c.148G>C (p.Asp50His)
c.145G>C (p.Asp49His)
1g.99861616G>TCA341329435AGLc.196G>T (p.Asp66Tyr)
n.407G>T
c.148G>T (p.Asp50Tyr)
c.145G>T (p.Asp49Tyr)
 gnomAD v4
1g.99861617A>CCA341329437AGLc.197A>C (p.Asp66Ala)
n.408A>C
c.149A>C (p.Asp50Ala)
c.146A>C (p.Asp49Ala)
1g.99861617A>GCA341329439AGLc.197A>G (p.Asp66Gly)
n.408A>G
c.149A>G (p.Asp50Gly)
c.146A>G (p.Asp49Gly)
1g.99861617A>TCA341329440AGLc.197A>T (p.Asp66Val)
n.408A>T
c.149A>T (p.Asp50Val)
c.146A>T (p.Asp49Val)
 gnomAD v4
1g.99861618T>ACA341329446AGLc.198T>A (p.Asp66Glu)
n.409T>A
c.150T>A (p.Asp50Glu)
c.147T>A (p.Asp49Glu)
1g.99861618T>CCA966084AGLc.198T>C (p.Asp66=)
n.409T>C
c.150T>C (p.Asp50=)
c.147T>C (p.Asp49=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99861618T>GCA341329442AGLc.198T>G (p.Asp66Glu)
n.409T>G
c.150T>G (p.Asp50Glu)
c.147T>G (p.Asp49Glu)
1g.99861618T=CA1183923610AGLc.198T= (p.Asp66=)
n.409T=
c.150T= (p.Asp50=)
c.147T= (p.Asp49=)
1g.99861619T>ACA341329448AGLc.199T>A (p.Trp67Arg)
n.410T>A
c.151T>A (p.Trp51Arg)
c.148T>A (p.Trp50Arg)
1g.99861619T>CCA341329450AGLc.199T>C (p.Trp67Arg)
n.410T>C
c.151T>C (p.Trp51Arg)
c.148T>C (p.Trp50Arg)
1g.99861619T>GCA341329453AGLc.199T>G (p.Trp67Gly)
n.410T>G
c.151T>G (p.Trp51Gly)
c.148T>G (p.Trp50Gly)
1g.99861619_99861620insTTCCCAATCCAGACA2646734595AGLc.199_200insTTCCCAATCCAGA (p.Trp67PhefsTer14)
n.410_411insTTCCCAATCCAGA
c.151_152insTTCCCAATCCAGA (p.Trp51PhefsTer14)
c.148_149insTTCCCAATCCAGA (p.Trp50PhefsTer14)
 gnomAD v4
1g.99861620G>ACA341329456AGLc.200G>A (p.Trp67Ter)
n.411G>A
c.152G>A (p.Trp51Ter)
c.149G>A (p.Trp50Ter)
 gnomAD v4
1g.99861620G>CCA341329458AGLc.200G>C (p.Trp67Ser)
n.411G>C
c.152G>C (p.Trp51Ser)
c.149G>C (p.Trp50Ser)
1g.99861620G>TCA341329459AGLc.200G>T (p.Trp67Leu)
n.411G>T
c.152G>T (p.Trp51Leu)
c.149G>T (p.Trp50Leu)
 COSMIC
1g.99861622dupCA2574444237AGLc.202dup (p.Glu68GlyfsTer9)
n.413dup
c.154dup (p.Glu52GlyfsTer9)
c.151dup (p.Glu51GlyfsTer9)
1g.99861621G>ACA341329462AGLc.201G>A (p.Trp67Ter)
n.412G>A
c.153G>A (p.Trp51Ter)
c.150G>A (p.Trp50Ter)
1g.99861621G>CCA341329465AGLc.201G>C (p.Trp67Cys)
n.412G>C
c.153G>C (p.Trp51Cys)
c.150G>C (p.Trp50Cys)
1g.99861621G>TCA341329467AGLc.201G>T (p.Trp67Cys)
n.412G>T
c.153G>T (p.Trp51Cys)
c.150G>T (p.Trp50Cys)
1g.99861622G>ACA341329470AGLc.202G>A (p.Glu68Lys)
n.413G>A
c.154G>A (p.Glu52Lys)
c.151G>A (p.Glu51Lys)
1g.99861622G>CCA341329471AGLc.202G>C (p.Glu68Gln)
n.413G>C
c.154G>C (p.Glu52Gln)
c.151G>C (p.Glu51Gln)
1g.99861622G>TCA341329472AGLc.202G>T (p.Glu68Ter)
n.413G>T
c.154G>T (p.Glu52Ter)
c.151G>T (p.Glu51Ter)
1g.99861623A>CCA341329473AGLc.203A>C (p.Glu68Ala)
n.414A>C
c.155A>C (p.Glu52Ala)
c.152A>C (p.Glu51Ala)
1g.99861623A>GCA341329476AGLc.203A>G (p.Glu68Gly)
n.414A>G
c.155A>G (p.Glu52Gly)
c.152A>G (p.Glu51Gly)
1g.99861623A>TCA341329474AGLc.203A>T (p.Glu68Val)
n.414A>T
c.155A>T (p.Glu52Val)
c.152A>T (p.Glu51Val)
1g.99861626dupCA2586967066AGLc.206dup (p.Asn69LysfsTer8)
n.417dup
c.158dup (p.Asn53LysfsTer8)
c.155dup (p.Asn52LysfsTer8)
 ClinVar
1g.99861624A>CCA341329481AGLc.204A>C (p.Glu68Asp)
n.415A>C
c.156A>C (p.Glu52Asp)
c.153A>C (p.Glu51Asp)
1g.99861624A>GCA419094090AGLc.204A>G (p.Glu68=)
n.415A>G
c.156A>G (p.Glu52=)
c.153A>G (p.Glu51=)
1g.99861624A>TCA341329482AGLc.204A>T (p.Glu68Asp)
n.415A>T
c.156A>T (p.Glu52Asp)
c.153A>T (p.Glu51Asp)

Number of alleles fetched