Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.204161960T>CCA2650012554RENc.249+53A>G (n.249+53A>G)
c.135+53A>G (n.135+53A>G)
 gnomAD v4
1g.204161962C>ACA2650012556RENc.249+51G>T (n.249+51G>T)
c.135+51G>T (n.135+51G>T)
 gnomAD v4
1g.204161963A=CA1143969094RENc.249+50T= (n.249+50T=)
c.135+50T= (n.135+50T=)
1g.204161963A>GCA2482058067RENc.249+50T>C (n.249+50T>C)
c.135+50T>C (n.135+50T>C)
 dbSNP gnomAD v4
1g.204161963A>TCA1345004RENc.249+50T>A (n.249+50T>A)
c.135+50T>A (n.135+50T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204161964T>CCA1345005RENc.249+49A>G (n.249+49A>G)
c.135+49A>G (n.135+49A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204161964T>GCA528190872RENc.249+49A>C (n.249+49A>C)
c.135+49A>C (n.135+49A>C)
 dbSNP gnomAD v2 gnomAD v4
1g.204161964T=CA2482058068RENc.249+49A= (n.249+49A=)
c.135+49A= (n.135+49A=)
1g.204161965G>CCA2697919950RENc.249+48C>G (n.249+48C>G)
c.135+48C>G (n.135+48C>G)
 dbSNP
1g.204161966A>GCA2650012572RENc.249+47T>C (n.249+47T>C)
c.135+47T>C (n.135+47T>C)
 gnomAD v4
1g.204161967G>ACA528190873RENc.249+46C>T (n.249+46C>T)
c.135+46C>T (n.135+46C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.204161967G=CA2482058069RENc.249+46C= (n.249+46C=)
c.135+46C= (n.135+46C=)
1g.204161968G>ACA528190874RENc.249+45C>T (n.249+45C>T)
c.135+45C>T (n.135+45C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.204161968G=CA2482058070RENc.249+45C= (n.249+45C=)
c.135+45C= (n.135+45C=)
1g.204161970A=CA2482058071RENc.249+43T= (n.249+43T=)
c.135+43T= (n.135+43T=)
1g.204161970A>GCA730340963RENc.249+43T>C (n.249+43T>C)
c.135+43T>C (n.135+43T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.204161972A>CCA2650012581RENc.249+41T>G (n.249+41T>G)
c.135+41T>G (n.135+41T>G)
 gnomAD v4
1g.204161972A>GCA2650012582RENc.249+41T>C (n.249+41T>C)
c.135+41T>C (n.135+41T>C)
 gnomAD v4
1g.204161973G>CCA730340979RENc.249+40C>G (n.249+40C>G)
c.135+40C>G (n.135+40C>G)
 dbSNP
1g.204161973G=CA2482058072RENc.249+40C= (n.249+40C=)
c.135+40C= (n.135+40C=)
1g.204161974G>ACA1345006RENc.249+39C>T (n.249+39C>T)
c.135+39C>T (n.135+39C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204161974G>CCA1345007RENc.249+39C>G (n.249+39C>G)
c.135+39C>G (n.135+39C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204161974G=CA1144825024RENc.249+39C= (n.249+39C=)
c.135+39C= (n.135+39C=)
1g.204161974G>TCA2650012588RENc.249+39C>A (n.249+39C>A)
c.135+39C>A (n.135+39C>A)
 gnomAD v4
1g.204161975A=CA2482058073RENc.249+38T= (n.249+38T=)
c.135+38T= (n.135+38T=)
1g.204161975A>GCA1345008RENc.249+38T>C (n.249+38T>C)
c.135+38T>C (n.135+38T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204161977A>GCA2573987995RENc.249+36T>C (n.249+36T>C)
c.135+36T>C (n.135+36T>C)
1g.204161978C=CA2482058074RENc.249+35G= (n.249+35G=)
c.135+35G= (n.135+35G=)
1g.204161978C>TCA528190878RENc.249+35G>A (n.249+35G>A)
c.135+35G>A (n.135+35G>A)
 dbSNP gnomAD v2 gnomAD v4
1g.204161978_204161980delinsCAGCA2482058075RENc.249+33_249+35delinsCTG (n.249+33_249+35delinsCTG)
c.135+33_135+35delinsCTG (n.135+33_135+35delinsCTG)
1g.204161979A>GCA2650012594RENc.249+34T>C (n.249+34T>C)
c.135+34T>C (n.135+34T>C)
 gnomAD v4
1g.204161979_204161980delCA2482058076RENc.249+33_249+34del (n.249+33_249+34del)
c.135+33_135+34del (n.135+33_135+34del)
 dbSNP gnomAD v4
1g.204161985_204161988dupCA2482058077RENc.249+31_249+34dup (n.249+31_249+34dup)
c.135+31_135+34dup (n.135+31_135+34dup)
 dbSNP
1g.204161980G>ACA35737781RENc.249+33C>T (n.249+33C>T)
c.135+33C>T (n.135+33C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.204161980G>CCA528190880RENc.249+33C>G (n.249+33C>G)
c.135+33C>G (n.135+33C>G)
 dbSNP gnomAD v2 gnomAD v4
1g.204161980G=CA2482058078RENc.249+33C= (n.249+33C=)
c.135+33C= (n.135+33C=)
1g.204161980_204161981insACA1345009RENc.249+32_249+33insT (n.249+32_249+33insT)
c.135+32_135+33insT (n.135+32_135+33insT)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204161981G>ACA528190883RENc.249+32C>T (n.249+32C>T)
c.135+32C>T (n.135+32C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204161981G=CA2482058079RENc.249+32C= (n.249+32C=)
c.135+32C= (n.135+32C=)
1g.204161982G>ACA1345010RENc.249+31C>T (n.249+31C>T)
c.135+31C>T (n.135+31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204161982G=CA1142021151RENc.249+31C= (n.249+31C=)
c.135+31C= (n.135+31C=)
1g.204161983A=CA2482058080RENc.249+30T= (n.249+30T=)
c.135+30T= (n.135+30T=)
1g.204161983A>GCA528190885RENc.249+30T>C (n.249+30T>C)
c.135+30T>C (n.135+30T>C)
 dbSNP gnomAD v2
1g.204161984G>ACA35737791RENc.249+29C>T (n.249+29C>T)
c.135+29C>T (n.135+29C>T)
 dbSNP gnomAD v4
1g.204161984G=CA1144770080RENc.249+29C= (n.249+29C=)
c.135+29C= (n.135+29C=)
1g.204161985G>CCA2482058082RENc.249+28C>G (n.249+28C>G)
c.135+28C>G (n.135+28C>G)
 dbSNP
1g.204161985G=CA2482058081RENc.249+28C= (n.249+28C=)
c.135+28C= (n.135+28C=)
1g.204161986G>ACA2650012614RENc.249+27C>T (n.249+27C>T)
c.135+27C>T (n.135+27C>T)
 gnomAD v4
1g.204161988G>ACA1011401041RENc.249+25C>T (n.249+25C>T)
c.135+25C>T (n.135+25C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.204161988G=CA2482058083RENc.249+25C= (n.249+25C=)
c.135+25C= (n.135+25C=)
1g.204161988G>TCA528190887RENc.249+25C>A (n.249+25C>A)
c.135+25C>A (n.135+25C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.204161989C=CA2482058084RENc.249+24G= (n.249+24G=)
c.135+24G= (n.135+24G=)
1g.204161989C>TCA1345011RENc.249+24G>A (n.249+24G>A)
c.135+24G>A (n.135+24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204161990G>ACA1345012RENc.249+23C>T (n.249+23C>T)
c.135+23C>T (n.135+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204161990G=CA2482058085RENc.249+23C= (n.249+23C=)
c.135+23C= (n.135+23C=)
1g.204161995G>ACA1345013RENc.249+18C>T (n.249+18C>T)
c.135+18C>T (n.135+18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204161995G=CA1144179619RENc.249+18C= (n.249+18C=)
c.135+18C= (n.135+18C=)
1g.204161997T>CCA730340990RENc.249+16A>G (n.249+16A>G)
c.135+16A>G (n.135+16A>G)
 dbSNP gnomAD v3 gnomAD v4
1g.204161997T=CA2482058086RENc.249+16A= (n.249+16A=)
c.135+16A= (n.135+16A=)
1g.204161997dupCA2650012631RENc.249+16dup (n.249+16dup)
c.135+16dup (n.135+16dup)
 gnomAD v4
1g.204162000G>ACA646367694RENc.249+13C>T (n.249+13C>T)
c.135+13C>T (n.135+13C>T)
 gnomAD v4 COSMIC
1g.204162000G>CCA1011401048RENc.249+13C>G (n.249+13C>G)
c.135+13C>G (n.135+13C>G)
 dbSNP gnomAD v3 gnomAD v4
1g.204162000G=CA2482058087RENc.249+13C= (n.249+13C=)
c.135+13C= (n.135+13C=)
1g.204162002C>GCA2650012638RENc.249+11G>C (n.249+11G>C)
c.135+11G>C (n.135+11G>C)
 gnomAD v4
1g.204162002C>TCA2650012639RENc.249+11G>A (n.249+11G>A)
c.135+11G>A (n.135+11G>A)
 gnomAD v4
1g.204162003A>GCA2650012641RENc.249+10T>C (n.249+10T>C)
c.135+10T>C (n.135+10T>C)
 gnomAD v4
1g.204162005G>ACA1345014RENc.249+8C>T (n.249+8C>T)
c.135+8C>T (n.135+8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162005G=CA2482058088RENc.249+8C= (n.249+8C=)
c.135+8C= (n.135+8C=)
1g.204162006C=CA2482058089RENc.249+7G= (n.249+7G=)
c.135+7G= (n.135+7G=)
1g.204162006C>TCA1345015RENc.249+7G>A (n.249+7G>A)
c.135+7G>A (n.135+7G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162008C>TCA422839229RENc.249+5G>A (n.249+5G>A)
c.135+5G>A (n.135+5G>A)
 ClinVar dbSNP
1g.204162010C>ACA1345016RENc.249+3G>T (n.249+3G>T)
c.135+3G>T (n.135+3G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162010C=CA2482058090RENc.249+3G= (n.249+3G=)
c.135+3G= (n.135+3G=)
1g.204162010C>GCA2650012653RENc.249+3G>C (n.249+3G>C)
c.135+3G>C (n.135+3G>C)
 gnomAD v4
1g.204162010C>TCA2482058091RENc.249+3G>A (n.249+3G>A)
c.135+3G>A (n.135+3G>A)
 dbSNP
1g.204162011A>CCA344341440RENc.249+2T>G (n.249+2T>G)
c.135+2T>G (n.135+2T>G)
1g.204162011A>GCA344341441RENc.249+2T>C (n.249+2T>C)
c.135+2T>C (n.135+2T>C)
1g.204162011A>TCA344341442RENc.249+2T>A (n.249+2T>A)
c.135+2T>A (n.135+2T>A)
1g.204162012C>ACA344341443RENc.249+1G>T (n.249+1G>T)
c.135+1G>T (n.135+1G>T)
 ClinVar
1g.204162012C=CA2482058092RENc.249+1G= (n.249+1G=)
c.135+1G= (n.135+1G=)
1g.204162012C>GCA344341444RENc.249+1G>C (n.249+1G>C)
c.135+1G>C (n.135+1G>C)
 gnomAD v4
1g.204162012C>TCA1345017RENc.249+1G>A (n.249+1G>A)
c.135+1G>A (n.135+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162013G>ACA1345018RENc.249C>T (p.Asp83=)
c.135C>T (p.Asp45=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.204162013G>CCA344341445RENc.249C>G (p.Asp83Glu)
c.135C>G (p.Asp45Glu)
1g.204162013G=CA2482058093RENc.249C= (p.Asp83=)
c.135C= (p.Asp45=)
1g.204162013G>TCA344341446RENc.249C>A (p.Asp83Glu)
c.135C>A (p.Asp45Glu)
1g.204162014T>ACA344341449RENc.248A>T (p.Asp83Val)
c.134A>T (p.Asp45Val)
1g.204162014T>CCA344341447RENc.248A>G (p.Asp83Gly)
c.134A>G (p.Asp45Gly)
1g.204162014T>GCA344341448RENc.248A>C (p.Asp83Ala)
c.134A>C (p.Asp45Ala)
1g.204162014_204162015insTTCA528190899RENc.248_249insAA (p.Asp83GlufsTer?)
c.134_135insAA (p.Asp45GlufsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.204162015C>ACA344341450RENc.247G>T (p.Asp83Tyr)
c.133G>T (p.Asp45Tyr)
1g.204162015C>GCA344341451RENc.247G>C (p.Asp83His)
c.133G>C (p.Asp45His)
1g.204162015C>TCA344341452RENc.247G>A (p.Asp83Asn)
c.133G>A (p.Asp45Asn)
1g.204162016C>ACA344341453RENc.246G>T (p.Met82Ile)
c.132G>T (p.Met44Ile)
1g.204162016C>GCA344341454RENc.246G>C (p.Met82Ile)
c.132G>C (p.Met44Ile)
1g.204162016C>TCA344341455RENc.246G>A (p.Met82Ile)
c.132G>A (p.Met44Ile)
 gnomAD v4
1g.204162017A=CA1141978123RENc.245T= (p.Met82=)
c.131T= (p.Met44=)
1g.204162017A>CCA344341456RENc.245T>G (p.Met82Arg)
c.131T>G (p.Met44Arg)
1g.204162017A>GCA344341457RENc.245T>C (p.Met82Thr)
c.131T>C (p.Met44Thr)
 gnomAD v4
1g.204162017A>TCA1345019RENc.245T>A (p.Met82Lys)
c.131T>A (p.Met44Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162018T>ACA344341458RENc.244A>T (p.Met82Leu)
c.130A>T (p.Met44Leu)
1g.204162018T>CCA344341459RENc.244A>G (p.Met82Val)
c.130A>G (p.Met44Val)
 gnomAD v4
1g.204162018T>GCA344341460RENc.244A>C (p.Met82Leu)
c.130A>C (p.Met44Leu)
1g.204162018T=CA2482058094RENc.244A= (p.Met82=)
c.130A= (p.Met44=)
1g.204162019G>ACA422839245RENc.243C>T (p.Tyr81=)
c.129C>T (p.Tyr43=)
 dbSNP gnomAD v4
1g.204162019G>CCA344341462RENc.243C>G (p.Tyr81Ter)
c.129C>G (p.Tyr43Ter)
1g.204162019G=CA2482058095RENc.243C= (p.Tyr81=)
c.129C= (p.Tyr43=)
1g.204162019G>TCA344341461RENc.243C>A (p.Tyr81Ter)
c.129C>A (p.Tyr43Ter)
1g.204162021_204162023dupCA1345020RENc.241_243dup (p.Tyr81_Met82insTyr)
c.127_129dup (p.Tyr43_Met44insTyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162020T>ACA344341469RENc.242A>T (p.Tyr81Phe)
c.128A>T (p.Tyr43Phe)
1g.204162020T>CCA344341464RENc.242A>G (p.Tyr81Cys)
c.128A>G (p.Tyr43Cys)
1g.204162020T>GCA344341467RENc.242A>C (p.Tyr81Ser)
c.128A>C (p.Tyr43Ser)
1g.204162021A>CCA344341472RENc.241T>G (p.Tyr81Asp)
c.127T>G (p.Tyr43Asp)
1g.204162021A>GCA344341474RENc.241T>C (p.Tyr81His)
c.127T>C (p.Tyr43His)
 gnomAD v4
1g.204162021A>TCA344341477RENc.241T>A (p.Tyr81Asn)
c.127T>A (p.Tyr43Asn)
1g.204162022G>ACA1345021RENc.240C>T (p.Asn80=)
c.126C>T (p.Asn42=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162022G>CCA344341480RENc.240C>G (p.Asn80Lys)
c.126C>G (p.Asn42Lys)
1g.204162022G=CA1143730021RENc.240C= (p.Asn80=)
c.126C= (p.Asn42=)
1g.204162022G>TCA344341483RENc.240C>A (p.Asn80Lys)
c.126C>A (p.Asn42Lys)
1g.204162023T>ACA344341486RENc.239A>T (p.Asn80Ile)
c.125A>T (p.Asn42Ile)
1g.204162023T>CCA344341488RENc.239A>G (p.Asn80Ser)
c.125A>G (p.Asn42Ser)
1g.204162023T>GCA344341489RENc.239A>C (p.Asn80Thr)
c.125A>C (p.Asn42Thr)
1g.204162024T>ACA344341497RENc.238A>T (p.Asn80Tyr)
c.124A>T (p.Asn42Tyr)
1g.204162024T>CCA344341495RENc.238A>G (p.Asn80Asp)
c.124A>G (p.Asn42Asp)
1g.204162024T>GCA344341492RENc.238A>C (p.Asn80His)
c.124A>C (p.Asn42His)
1g.204162025G>ACA422839247RENc.237C>T (p.Thr79=)
c.123C>T (p.Thr41=)
1g.204162025G>CCA422839248RENc.237C>G (p.Thr79=)
c.123C>G (p.Thr41=)
1g.204162025G>TCA422839249RENc.237C>A (p.Thr79=)
c.123C>A (p.Thr41=)
1g.204162026G>ACA344341511RENc.236C>T (p.Thr79Ile)
c.122C>T (p.Thr41Ile)
 ClinVar gnomAD v4
1g.204162026G>CCA1345022RENc.236C>G (p.Thr79Ser)
c.122C>G (p.Thr41Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162026G=CA2482058096RENc.236C= (p.Thr79=)
c.122C= (p.Thr41=)
1g.204162026G>TCA344341514RENc.236C>A (p.Thr79Asn)
c.122C>A (p.Thr41Asn)
1g.204162027T>ACA344341517RENc.235A>T (p.Thr79Ser)
c.121A>T (p.Thr41Ser)
1g.204162027T>CCA344341519RENc.235A>G (p.Thr79Ala)
c.121A>G (p.Thr41Ala)
1g.204162027T>GCA344341521RENc.235A>C (p.Thr79Pro)
c.121A>C (p.Thr41Pro)
1g.204162028G>ACA422839250RENc.234C>T (p.Leu78=)
c.120C>T (p.Leu40=)
1g.204162028G>CCA422839251RENc.234C>G (p.Leu78=)
c.120C>G (p.Leu40=)
1g.204162028G>TCA422839252RENc.234C>A (p.Leu78=)
c.120C>A (p.Leu40=)
1g.204162029A>CCA344341525RENc.233T>G (p.Leu78Arg)
c.119T>G (p.Leu40Arg)
1g.204162029A>GCA344341527RENc.233T>C (p.Leu78Pro)
c.119T>C (p.Leu40Pro)
1g.204162029A>TCA344341529RENc.233T>A (p.Leu78His)
c.119T>A (p.Leu40His)
 gnomAD v3 gnomAD v4
1g.204162030G>ACA344341532RENc.232C>T (p.Leu78Phe)
c.118C>T (p.Leu40Phe)
 gnomAD v3 gnomAD v4
1g.204162030G>CCA344341534RENc.232C>G (p.Leu78Val)
c.118C>G (p.Leu40Val)
1g.204162030G=CA2482058097RENc.232C= (p.Leu78=)
c.118C= (p.Leu40=)
1g.204162030G>TCA344341537RENc.232C>A (p.Leu78Ile)
c.118C>A (p.Leu40Ile)
 dbSNP gnomAD v2
1g.204162031G>ACA422839253RENc.231C>T (p.Ile77=)
c.117C>T (p.Ile39=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204162031G>CCA35737821RENc.231C>G (p.Ile77Met)
c.117C>G (p.Ile39Met)
 dbSNP gnomAD v3 gnomAD v4
1g.204162031G=CA1141807409RENc.231C= (p.Ile77=)
c.117C= (p.Ile39=)
1g.204162031G>TCA422839254RENc.231C>A (p.Ile77=)
c.117C>A (p.Ile39=)
1g.204162032A=CA1147805032RENc.230T= (p.Ile77=)
c.116T= (p.Ile39=)
1g.204162032A>CCA1345024RENc.230T>G (p.Ile77Ser)
c.116T>G (p.Ile39Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162032A>GCA1345023RENc.230T>C (p.Ile77Thr)
c.116T>C (p.Ile39Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162032A>TCA344341542RENc.230T>A (p.Ile77Asn)
c.116T>A (p.Ile39Asn)
1g.204162033T>ACA344341549RENc.229A>T (p.Ile77Phe)
c.115A>T (p.Ile39Phe)
 gnomAD v4
1g.204162033T>CCA344341550RENc.229A>G (p.Ile77Val)
c.115A>G (p.Ile39Val)
1g.204162033T>GCA344341553RENc.229A>C (p.Ile77Leu)
c.115A>C (p.Ile39Leu)
1g.204162034C>ACA422839255RENc.228G>T (p.Val76=)
c.114G>T (p.Val38=)
1g.204162034C=CA2482058098RENc.228G= (p.Val76=)
c.114G= (p.Val38=)
1g.204162034C>GCA422839256RENc.228G>C (p.Val76=)
c.114G>C (p.Val38=)
1g.204162034C>TCA35737825RENc.228G>A (p.Val76=)
c.114G>A (p.Val38=)
 dbSNP
1g.204162035A>CCA344341558RENc.227T>G (p.Val76Gly)
c.113T>G (p.Val38Gly)
1g.204162035A>GCA344341559RENc.227T>C (p.Val76Ala)
c.113T>C (p.Val38Ala)
1g.204162035A>TCA344341561RENc.227T>A (p.Val76Glu)
c.113T>A (p.Val38Glu)
 gnomAD v3 gnomAD v4
1g.204162036C>ACA344341563RENc.226G>T (p.Val76Leu)
c.112G>T (p.Val38Leu)
1g.204162036C=CA2482058099RENc.226G= (p.Val76=)
c.112G= (p.Val38=)
1g.204162036C>GCA344341567RENc.226G>C (p.Val76Leu)
c.112G>C (p.Val38Leu)
1g.204162036C>TCA1345025RENc.226G>A (p.Val76Met)
c.112G>A (p.Val38Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.204162037G>ACA1345026RENc.225C>T (p.Ser75=)
c.111C>T (p.Ser37=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162037G>CCA422839258RENc.225C>G (p.Ser75=)
c.111C>G (p.Ser37=)
1g.204162037G=CA1143998057RENc.225C= (p.Ser75=)
c.111C= (p.Ser37=)
1g.204162037G>TCA422839257RENc.225C>A (p.Ser75=)
c.111C>A (p.Ser37=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204162038G>ACA344341572RENc.224C>T (p.Ser75Phe)
c.110C>T (p.Ser37Phe)
1g.204162038G>CCA344341574RENc.224C>G (p.Ser75Cys)
c.110C>G (p.Ser37Cys)
1g.204162038G>TCA344341576RENc.224C>A (p.Ser75Tyr)
c.110C>A (p.Ser37Tyr)
1g.204162039A>CCA344341579RENc.223T>G (p.Ser75Ala)
c.109T>G (p.Ser37Ala)
1g.204162039A>GCA344341583RENc.223T>C (p.Ser75Pro)
c.109T>C (p.Ser37Pro)
1g.204162039A>TCA344341581RENc.223T>A (p.Ser75Thr)
c.109T>A (p.Ser37Thr)
 gnomAD v4
1g.204162040G>ACA1345027RENc.222C>T (p.Ser74=)
c.108C>T (p.Ser36=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162040G>CCA422839259RENc.222C>G (p.Ser74=)
c.108C>G (p.Ser36=)
1g.204162040G=CA2482058100RENc.222C= (p.Ser74=)
c.108C= (p.Ser36=)
1g.204162040G>TCA422839260RENc.222C>A (p.Ser74=)
c.108C>A (p.Ser36=)
1g.204162041G>ACA1345029RENc.221C>T (p.Ser74Phe)
c.107C>T (p.Ser36Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162041G>CCA344341590RENc.221C>G (p.Ser74Cys)
c.107C>G (p.Ser36Cys)
1g.204162041G=CA1144954157RENc.221C= (p.Ser74=)
c.107C= (p.Ser36=)
1g.204162041G>TCA1345028RENc.221C>A (p.Ser74Tyr)
c.107C>A (p.Ser36Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162042A>CCA344341594RENc.220T>G (p.Ser74Ala)
c.106T>G (p.Ser36Ala)
1g.204162042A>GCA344341596RENc.220T>C (p.Ser74Pro)
c.106T>C (p.Ser36Pro)
1g.204162042A>TCA344341598RENc.220T>A (p.Ser74Thr)
c.106T>A (p.Ser36Thr)
1g.204162043G>ACA422839261RENc.219C>T (p.Thr73=)
c.105C>T (p.Thr35=)
 dbSNP gnomAD v3 gnomAD v4
1g.204162043G>CCA422839262RENc.219C>G (p.Thr73=)
c.105C>G (p.Thr35=)
1g.204162043G=CA2482058101RENc.219C= (p.Thr73=)
c.105C= (p.Thr35=)
1g.204162043G>TCA422839263RENc.219C>A (p.Thr73=)
c.105C>A (p.Thr35=)
1g.204162044G>ACA344341659RENc.218C>T (p.Thr73Ile)
c.104C>T (p.Thr35Ile)
 dbSNP
1g.204162044G>CCA344341662RENc.218C>G (p.Thr73Ser)
c.104C>G (p.Thr35Ser)
1g.204162044G=CA2482058102RENc.218C= (p.Thr73=)
c.104C= (p.Thr35=)
1g.204162044G>TCA1345030RENc.218C>A (p.Thr73Asn)
c.104C>A (p.Thr35Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162045T>ACA344341668RENc.217A>T (p.Thr73Ser)
c.103A>T (p.Thr35Ser)
1g.204162045T>CCA344341670RENc.217A>G (p.Thr73Ala)
c.103A>G (p.Thr35Ala)
 gnomAD v4
1g.204162045T>GCA344341672RENc.217A>C (p.Thr73Pro)
c.103A>C (p.Thr35Pro)
1g.204162046G>ACA1345031RENc.216C>T (p.Thr72=)
c.102C>T (p.Thr34=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162046G>CCA422839264RENc.216C>G (p.Thr72=)
c.102C>G (p.Thr34=)
1g.204162046G=CA2482058103RENc.216C= (p.Thr72=)
c.102C= (p.Thr34=)
1g.204162046G>TCA422839265RENc.216C>A (p.Thr72=)
c.102C>A (p.Thr34=)
1g.204162047G>ACA344341680RENc.215C>T (p.Thr72Ile)
c.101C>T (p.Thr34Ile)
 gnomAD v4
1g.204162047G>CCA344341678RENc.215C>G (p.Thr72Ser)
c.101C>G (p.Thr34Ser)
 gnomAD v4
1g.204162047G=CA1146502978RENc.215C= (p.Thr72=)
c.101C= (p.Thr34=)
1g.204162047G>TCA1345032RENc.215C>A (p.Thr72Asn)
c.101C>A (p.Thr34Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162048T>ACA344341684RENc.214A>T (p.Thr72Ser)
c.100A>T (p.Thr34Ser)
1g.204162048T>CCA344341686RENc.214A>G (p.Thr72Ala)
c.100A>G (p.Thr34Ala)
1g.204162048T>GCA344341689RENc.214A>C (p.Thr72Pro)
c.100A>C (p.Thr34Pro)
1g.204162049G>ACA35737835RENc.213C>T (p.Asn71=)
c.99C>T (p.Asn33=)
 dbSNP gnomAD v2 gnomAD v4
1g.204162049G>CCA344341693RENc.213C>G (p.Asn71Lys)
c.99C>G (p.Asn33Lys)
1g.204162049G=CA1146315278RENc.213C= (p.Asn71=)
c.99C= (p.Asn33=)
1g.204162049G>TCA344341696RENc.213C>A (p.Asn71Lys)
c.99C>A (p.Asn33Lys)
1g.204162050T>ACA344341704RENc.212A>T (p.Asn71Ile)
c.98A>T (p.Asn33Ile)
1g.204162050T>CCA344341701RENc.212A>G (p.Asn71Ser)
c.98A>G (p.Asn33Ser)
1g.204162050T>GCA344341698RENc.212A>C (p.Asn71Thr)
c.98A>C (p.Asn33Thr)
1g.204162051T>ACA344341708RENc.211A>T (p.Asn71Tyr)
c.97A>T (p.Asn33Tyr)
1g.204162051T>CCA1345033RENc.211A>G (p.Asn71Asp)
c.97A>G (p.Asn33Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162051T>GCA344341712RENc.211A>C (p.Asn71His)
c.97A>C (p.Asn33His)
1g.204162051T=CA2482058104RENc.211A= (p.Asn71=)
c.97A= (p.Asn33=)
1g.204162052delCA2747425980RENc.210del (p.Asn71ThrfsTer6)
c.96del (p.Asn33ThrfsTer6)
1g.204162052G>ACA422839313RENc.210C>T (p.Gly70=)
c.96C>T (p.Gly32=)
 dbSNP gnomAD v3 gnomAD v4
1g.204162052G>CCA422839314RENc.210C>G (p.Gly70=)
c.96C>G (p.Gly32=)
1g.204162052G=CA2482058105RENc.210C= (p.Gly70=)
c.96C= (p.Gly32=)
1g.204162052G>TCA422839315RENc.210C>A (p.Gly70=)
c.96C>A (p.Gly32=)
1g.204162053C>ACA344341716RENc.209G>T (p.Gly70Val)
c.95G>T (p.Gly32Val)
1g.204162053C=CA2482058106RENc.209G= (p.Gly70=)
c.95G= (p.Gly32=)
1g.204162053C>GCA344341718RENc.209G>C (p.Gly70Ala)
c.95G>C (p.Gly32Ala)
1g.204162053C>TCA1345034RENc.209G>A (p.Gly70Asp)
c.95G>A (p.Gly32Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162054C>ACA344341722RENc.208G>T (p.Gly70Cys)
c.94G>T (p.Gly32Cys)
1g.204162054C>GCA344341727RENc.208G>C (p.Gly70Arg)
c.94G>C (p.Gly32Arg)
1g.204162054C>TCA344341725RENc.208G>A (p.Gly70Ser)
c.94G>A (p.Gly32Ser)
1g.204162054_204162058delinsCAAGTCA2482058107RENc.204_208delinsACTTG (p.Thr68=)
c.90_94delinsACTTG (p.Thr30=)
1g.204162055A=CA2482058108RENc.207T= (p.Leu69=)
c.93T= (p.Leu31=)
1g.204162055A>CCA422839316RENc.207T>G (p.Leu69=)
c.93T>G (p.Leu31=)
 gnomAD v4
1g.204162055A>GCA1345036RENc.207T>C (p.Leu69=)
c.93T>C (p.Leu31=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162055A>TCA422839317RENc.207T>A (p.Leu69=)
c.93T>A (p.Leu31=)
1g.204162055_204162058delCA1345035RENc.204_207del (p.Leu69AlafsTer7)
c.90_93del (p.Leu31AlafsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.204162056A>CCA344341733RENc.206T>G (p.Leu69Arg)
c.92T>G (p.Leu31Arg)
1g.204162056A>GCA344341735RENc.206T>C (p.Leu69Pro)
c.92T>C (p.Leu31Pro)
1g.204162056A>TCA344341737RENc.206T>A (p.Leu69His)
c.92T>A (p.Leu31His)
1g.204162057G>ACA344341739RENc.205C>T (p.Leu69Phe)
c.91C>T (p.Leu31Phe)
 gnomAD v4
1g.204162057G>CCA35737842RENc.205C>G (p.Leu69Val)
c.91C>G (p.Leu31Val)
 dbSNP
1g.204162057G=CA2482058109RENc.205C= (p.Leu69=)
c.91C= (p.Leu31=)
1g.204162057G>TCA344341742RENc.205C>A (p.Leu69Ile)
c.91C>A (p.Leu31Ile)
1g.204162058T>ACA422839319RENc.204A>T (p.Thr68=)
c.90A>T (p.Thr30=)
1g.204162058T>CCA422839318RENc.204A>G (p.Thr68=)
c.90A>G (p.Thr30=)
1g.204162058T>GCA1345037RENc.204A>C (p.Thr68=)
c.90A>C (p.Thr30=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204162058T=CA1139773017RENc.204A= (p.Thr68=)
c.90A= (p.Thr30=)
1g.204162059G>ACA35737848RENc.203C>T (p.Thr68Ile)
c.89C>T (p.Thr30Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204162059G>CCA344341748RENc.203C>G (p.Thr68Arg)
c.89C>G (p.Thr30Arg)
1g.204162059G=CA2482058110RENc.203C= (p.Thr68=)
c.89C= (p.Thr30=)
1g.204162059G>TCA344341750RENc.203C>A (p.Thr68Lys)
c.89C>A (p.Thr30Lys)

Number of alleles fetched