Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98389660A>CCA347831419CNGA3c.452A>C (p.Lys151Thr)
n.457A>C
c.464A>C (p.Lys155Thr)
c.398A>C (p.Lys133Thr)
c.563A>C (p.Lys188Thr)
c.617A>C (p.Lys206Thr)
2g.98389660A>GCA347831417CNGA3c.452A>G (p.Lys151Arg)
n.457A>G
c.464A>G (p.Lys155Arg)
c.398A>G (p.Lys133Arg)
c.563A>G (p.Lys188Arg)
c.617A>G (p.Lys206Arg)
2g.98389660A>TCA347831418CNGA3c.452A>T (p.Lys151Met)
n.457A>T
c.464A>T (p.Lys155Met)
c.398A>T (p.Lys133Met)
c.563A>T (p.Lys188Met)
c.617A>T (p.Lys206Met)
2g.98389661G>ACA427567047CNGA3c.453G>A (p.Lys151=)
n.458G>A
c.465G>A (p.Lys155=)
c.399G>A (p.Lys133=)
c.564G>A (p.Lys188=)
c.618G>A (p.Lys206=)
 ClinVar
2g.98389661G>CCA347831420CNGA3c.453G>C (p.Lys151Asn)
n.458G>C
c.465G>C (p.Lys155Asn)
c.399G>C (p.Lys133Asn)
c.564G>C (p.Lys188Asn)
c.618G>C (p.Lys206Asn)
2g.98389661G>TCA347831421CNGA3c.453G>T (p.Lys151Asn)
n.458G>T
c.465G>T (p.Lys155Asn)
c.399G>T (p.Lys133Asn)
c.564G>T (p.Lys188Asn)
c.618G>T (p.Lys206Asn)
2g.98389662A=CA1273416646CNGA3c.454A= (p.Lys152=)
n.459A=
c.466A= (p.Lys156=)
c.400A= (p.Lys134=)
c.565A= (p.Lys189=)
c.619A= (p.Lys207=)
2g.98389662A>CCA347831422CNGA3c.454A>C (p.Lys152Gln)
n.459A>C
c.466A>C (p.Lys156Gln)
c.400A>C (p.Lys134Gln)
c.565A>C (p.Lys189Gln)
c.619A>C (p.Lys207Gln)
2g.98389662A>GCA1793761CNGA3c.454A>G (p.Lys152Glu)
n.459A>G
c.466A>G (p.Lys156Glu)
c.400A>G (p.Lys134Glu)
c.565A>G (p.Lys189Glu)
c.619A>G (p.Lys207Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98389662A>TCA347831423CNGA3c.454A>T (p.Lys152Ter)
n.459A>T
c.466A>T (p.Lys156Ter)
c.400A>T (p.Lys134Ter)
c.565A>T (p.Lys189Ter)
c.619A>T (p.Lys207Ter)
2g.98389663A=CA1273416647CNGA3c.455A= (p.Lys152=)
n.460A=
c.467A= (p.Lys156=)
c.401A= (p.Lys134=)
c.566A= (p.Lys189=)
c.620A= (p.Lys207=)
2g.98389663A>CCA347831424CNGA3c.455A>C (p.Lys152Thr)
n.460A>C
c.467A>C (p.Lys156Thr)
c.401A>C (p.Lys134Thr)
c.566A>C (p.Lys189Thr)
c.620A>C (p.Lys207Thr)
2g.98389663A>GCA1793762CNGA3c.455A>G (p.Lys152Arg)
n.460A>G
c.467A>G (p.Lys156Arg)
c.401A>G (p.Lys134Arg)
c.566A>G (p.Lys189Arg)
c.620A>G (p.Lys207Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.98389663A>TCA347831425CNGA3c.455A>T (p.Lys152Met)
n.460A>T
c.467A>T (p.Lys156Met)
c.401A>T (p.Lys134Met)
c.566A>T (p.Lys189Met)
c.620A>T (p.Lys207Met)
2g.98389664G>ACA1793763CNGA3c.456G>A (p.Lys152=)
n.461G>A
c.468G>A (p.Lys156=)
c.402G>A (p.Lys134=)
c.567G>A (p.Lys189=)
c.621G>A (p.Lys207=)
 dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
2g.98389664G>CCA347831426CNGA3c.456G>C (p.Lys152Asn)
n.461G>C
c.468G>C (p.Lys156Asn)
c.402G>C (p.Lys134Asn)
c.567G>C (p.Lys189Asn)
c.621G>C (p.Lys207Asn)
2g.98389664G=CA1273416648CNGA3c.456G= (p.Lys152=)
n.461G=
c.468G= (p.Lys156=)
c.402G= (p.Lys134=)
c.567G= (p.Lys189=)
c.621G= (p.Lys207=)
2g.98389664G>TCA347831427CNGA3c.456G>T (p.Lys152Asn)
n.461G>T
c.468G>T (p.Lys156Asn)
c.402G>T (p.Lys134Asn)
c.567G>T (p.Lys189Asn)
c.621G>T (p.Lys207Asn)
2g.98389665A>CCA347831430CNGA3c.457A>C (p.Thr153Pro)
n.462A>C
c.469A>C (p.Thr157Pro)
c.403A>C (p.Thr135Pro)
c.568A>C (p.Thr190Pro)
c.622A>C (p.Thr208Pro)
2g.98389665A>GCA347831429CNGA3c.457A>G (p.Thr153Ala)
n.462A>G
c.469A>G (p.Thr157Ala)
c.403A>G (p.Thr135Ala)
c.568A>G (p.Thr190Ala)
c.622A>G (p.Thr208Ala)
2g.98389665A>TCA347831428CNGA3c.457A>T (p.Thr153Ser)
n.462A>T
c.469A>T (p.Thr157Ser)
c.403A>T (p.Thr135Ser)
c.568A>T (p.Thr190Ser)
c.622A>T (p.Thr208Ser)
2g.98389666C>ACA347831431CNGA3c.458C>A (p.Thr153Lys)
n.463C>A
c.470C>A (p.Thr157Lys)
c.404C>A (p.Thr135Lys)
c.569C>A (p.Thr190Lys)
c.623C>A (p.Thr208Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.98389666C=CA1273416649CNGA3c.458C= (p.Thr153=)
n.463C=
c.470C= (p.Thr157=)
c.404C= (p.Thr135=)
c.569C= (p.Thr190=)
c.623C= (p.Thr208=)
2g.98389666C>GCA347831432CNGA3c.458C>G (p.Thr153Arg)
n.463C>G
c.470C>G (p.Thr157Arg)
c.404C>G (p.Thr135Arg)
c.569C>G (p.Thr190Arg)
c.623C>G (p.Thr208Arg)
2g.98389666C>TCA1793764CNGA3c.458C>T (p.Thr153Met)
n.463C>T
c.470C>T (p.Thr157Met)
c.404C>T (p.Thr135Met)
c.569C>T (p.Thr190Met)
c.623C>T (p.Thr208Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98389667G>ACA1793765CNGA3c.459G>A (p.Thr153=)
n.464G>A
c.471G>A (p.Thr157=)
c.405G>A (p.Thr135=)
c.570G>A (p.Thr190=)
c.624G>A (p.Thr208=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98389667G>CCA427567048CNGA3c.459G>C (p.Thr153=)
n.464G>C
c.471G>C (p.Thr157=)
c.405G>C (p.Thr135=)
c.570G>C (p.Thr190=)
c.624G>C (p.Thr208=)
2g.98389667G=CA1273416650CNGA3c.459G= (p.Thr153=)
n.464G=
c.471G= (p.Thr157=)
c.405G= (p.Thr135=)
c.570G= (p.Thr190=)
c.624G= (p.Thr208=)
2g.98389667G>TCA427567049CNGA3c.459G>T (p.Thr153=)
n.464G>T
c.471G>T (p.Thr157=)
c.405G>T (p.Thr135=)
c.570G>T (p.Thr190=)
c.624G>T (p.Thr208=)
2g.98389668A=CA1273416651CNGA3c.460A= (p.Lys154=)
n.465A=
c.472A= (p.Lys158=)
c.406A= (p.Lys136=)
c.571A= (p.Lys191=)
c.625A= (p.Lys209=)
2g.98389668A>CCA347831433CNGA3c.460A>C (p.Lys154Gln)
n.465A>C
c.472A>C (p.Lys158Gln)
c.406A>C (p.Lys136Gln)
c.571A>C (p.Lys191Gln)
c.625A>C (p.Lys209Gln)
2g.98389668A>GCA52624033CNGA3c.460A>G (p.Lys154Glu)
n.465A>G
c.472A>G (p.Lys158Glu)
c.406A>G (p.Lys136Glu)
c.571A>G (p.Lys191Glu)
c.625A>G (p.Lys209Glu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.98389668A>TCA347831434CNGA3c.460A>T (p.Lys154Ter)
n.465A>T
c.472A>T (p.Lys158Ter)
c.406A>T (p.Lys136Ter)
c.571A>T (p.Lys191Ter)
c.625A>T (p.Lys209Ter)
2g.98389672delCA2499216312CNGA3c.464del (p.Lys155ArgfsTer18)
n.469del
c.476del (p.Lys159ArgfsTer18)
c.410del (p.Lys137ArgfsTer18)
c.575del (p.Lys192ArgfsTer18)
c.629del (p.Lys210ArgfsTer18)
 ClinVar dbSNP gnomAD v4
2g.98389669A=CA1273416652CNGA3c.461A= (p.Lys154=)
n.466A=
c.473A= (p.Lys158=)
c.407A= (p.Lys136=)
c.572A= (p.Lys191=)
c.626A= (p.Lys209=)
2g.98389669A>CCA347831435CNGA3c.461A>C (p.Lys154Thr)
n.466A>C
c.473A>C (p.Lys158Thr)
c.407A>C (p.Lys136Thr)
c.572A>C (p.Lys191Thr)
c.626A>C (p.Lys209Thr)
2g.98389669A>GCA347831436CNGA3c.461A>G (p.Lys154Arg)
n.466A>G
c.473A>G (p.Lys158Arg)
c.407A>G (p.Lys136Arg)
c.572A>G (p.Lys191Arg)
c.626A>G (p.Lys209Arg)
 gnomAD v4
2g.98389669A>TCA1793766CNGA3c.461A>T (p.Lys154Ile)
n.466A>T
c.473A>T (p.Lys158Ile)
c.407A>T (p.Lys136Ile)
c.572A>T (p.Lys191Ile)
c.626A>T (p.Lys209Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98389670A>CCA347831437CNGA3c.462A>C (p.Lys154Asn)
n.467A>C
c.474A>C (p.Lys158Asn)
c.408A>C (p.Lys136Asn)
c.573A>C (p.Lys191Asn)
c.627A>C (p.Lys209Asn)
2g.98389670A>GCA427567050CNGA3c.462A>G (p.Lys154=)
n.467A>G
c.474A>G (p.Lys158=)
c.408A>G (p.Lys136=)
c.573A>G (p.Lys191=)
c.627A>G (p.Lys209=)
 gnomAD v4
2g.98389670A>TCA347831438CNGA3c.462A>T (p.Lys154Asn)
n.467A>T
c.474A>T (p.Lys158Asn)
c.408A>T (p.Lys136Asn)
c.573A>T (p.Lys191Asn)
c.627A>T (p.Lys209Asn)
2g.98389670_98389673delinsAAAGCA1273416653CNGA3c.462_465delinsAAAG (p.Lys154=)
n.467_470delinsAAAG
c.474_477delinsAAAG (p.Lys158=)
c.408_411delinsAAAG (p.Lys136=)
c.573_576delinsAAAG (p.Lys191=)
c.627_630delinsAAAG (p.Lys209=)
2g.98389671A>CCA347831441CNGA3c.463A>C (p.Lys155Gln)
n.468A>C
c.475A>C (p.Lys159Gln)
c.409A>C (p.Lys137Gln)
c.574A>C (p.Lys192Gln)
c.628A>C (p.Lys210Gln)
2g.98389671A>GCA347831440CNGA3c.463A>G (p.Lys155Glu)
n.468A>G
c.475A>G (p.Lys159Glu)
c.409A>G (p.Lys137Glu)
c.574A>G (p.Lys192Glu)
c.628A>G (p.Lys210Glu)
2g.98389671A>TCA347831439CNGA3c.463A>T (p.Lys155Ter)
n.468A>T
c.475A>T (p.Lys159Ter)
c.409A>T (p.Lys137Ter)
c.574A>T (p.Lys192Ter)
c.628A>T (p.Lys210Ter)
2g.98389674_98389676delCA534921170CNGA3c.466_468del (p.Lys156del)
n.471_473del
c.478_480del (p.Lys160del)
c.412_414del (p.Lys138del)
c.577_579del (p.Lys193del)
c.631_633del (p.Lys211del)
 dbSNP gnomAD v2 gnomAD v4
2g.98389672A=CA1273416654CNGA3c.464A= (p.Lys155=)
n.469A=
c.476A= (p.Lys159=)
c.410A= (p.Lys137=)
c.575A= (p.Lys192=)
c.629A= (p.Lys210=)
2g.98389672A>CCA347831442CNGA3c.464A>C (p.Lys155Thr)
n.469A>C
c.476A>C (p.Lys159Thr)
c.410A>C (p.Lys137Thr)
c.575A>C (p.Lys192Thr)
c.629A>C (p.Lys210Thr)
2g.98389672A>GCA347831443CNGA3c.464A>G (p.Lys155Arg)
n.469A>G
c.476A>G (p.Lys159Arg)
c.410A>G (p.Lys137Arg)
c.575A>G (p.Lys192Arg)
c.629A>G (p.Lys210Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.98389672A>TCA347831444CNGA3c.464A>T (p.Lys155Met)
n.469A>T
c.476A>T (p.Lys159Met)
c.410A>T (p.Lys137Met)
c.575A>T (p.Lys192Met)
c.629A>T (p.Lys210Met)
2g.98389673G>ACA427567051CNGA3c.465G>A (p.Lys155=)
n.470G>A
c.477G>A (p.Lys159=)
c.411G>A (p.Lys137=)
c.576G>A (p.Lys192=)
c.630G>A (p.Lys210=)
2g.98389673G>CCA347831445CNGA3c.465G>C (p.Lys155Asn)
n.470G>C
c.477G>C (p.Lys159Asn)
c.411G>C (p.Lys137Asn)
c.576G>C (p.Lys192Asn)
c.630G>C (p.Lys210Asn)
2g.98389673G>TCA347831446CNGA3c.465G>T (p.Lys155Asn)
n.470G>T
c.477G>T (p.Lys159Asn)
c.411G>T (p.Lys137Asn)
c.576G>T (p.Lys192Asn)
c.630G>T (p.Lys210Asn)
2g.98389674A>CCA347831447CNGA3c.466A>C (p.Lys156Gln)
n.471A>C
c.478A>C (p.Lys160Gln)
c.412A>C (p.Lys138Gln)
c.577A>C (p.Lys193Gln)
c.631A>C (p.Lys211Gln)
2g.98389674A>GCA347831448CNGA3c.466A>G (p.Lys156Glu)
n.471A>G
c.478A>G (p.Lys160Glu)
c.412A>G (p.Lys138Glu)
c.577A>G (p.Lys193Glu)
c.631A>G (p.Lys211Glu)
2g.98389674A>TCA347831449CNGA3c.466A>T (p.Lys156Ter)
n.471A>T
c.478A>T (p.Lys160Ter)
c.412A>T (p.Lys138Ter)
c.577A>T (p.Lys193Ter)
c.631A>T (p.Lys211Ter)
2g.98389675A=CA1273416655CNGA3c.467A= (p.Lys156=)
n.472A=
c.479A= (p.Lys160=)
c.413A= (p.Lys138=)
c.578A= (p.Lys193=)
c.632A= (p.Lys211=)
2g.98389675A>CCA347831450CNGA3c.467A>C (p.Lys156Thr)
n.472A>C
c.479A>C (p.Lys160Thr)
c.413A>C (p.Lys138Thr)
c.578A>C (p.Lys193Thr)
c.632A>C (p.Lys211Thr)
2g.98389675A>GCA347831451CNGA3c.467A>G (p.Lys156Arg)
n.472A>G
c.479A>G (p.Lys160Arg)
c.413A>G (p.Lys138Arg)
c.578A>G (p.Lys193Arg)
c.632A>G (p.Lys211Arg)
 dbSNP
2g.98389675A>TCA347831452CNGA3c.467A>T (p.Lys156Met)
n.472A>T
c.479A>T (p.Lys160Met)
c.413A>T (p.Lys138Met)
c.578A>T (p.Lys193Met)
c.632A>T (p.Lys211Met)
2g.98389676G>ACA427567052CNGA3c.468G>A (p.Lys156=)
n.473G>A
c.480G>A (p.Lys160=)
c.414G>A (p.Lys138=)
c.579G>A (p.Lys193=)
c.633G>A (p.Lys211=)
2g.98389676G>CCA347831453CNGA3c.468G>C (p.Lys156Asn)
n.473G>C
c.480G>C (p.Lys160Asn)
c.414G>C (p.Lys138Asn)
c.579G>C (p.Lys193Asn)
c.633G>C (p.Lys211Asn)
 dbSNP gnomAD v4
2g.98389676G=CA1273416656CNGA3c.468G= (p.Lys156=)
n.473G=
c.480G= (p.Lys160=)
c.414G= (p.Lys138=)
c.579G= (p.Lys193=)
c.633G= (p.Lys211=)
2g.98389676G>TCA347831454CNGA3c.468G>T (p.Lys156Asn)
n.473G>T
c.480G>T (p.Lys160Asn)
c.414G>T (p.Lys138Asn)
c.579G>T (p.Lys193Asn)
c.633G>T (p.Lys211Asn)
2g.98389677G>ACA347831456CNGA3c.469G>A (p.Asp157Asn)
n.474G>A
c.481G>A (p.Asp161Asn)
c.415G>A (p.Asp139Asn)
c.580G>A (p.Asp194Asn)
c.634G>A (p.Asp212Asn)
2g.98389677G>CCA347831457CNGA3c.469G>C (p.Asp157His)
n.474G>C
c.481G>C (p.Asp161His)
c.415G>C (p.Asp139His)
c.580G>C (p.Asp194His)
c.634G>C (p.Asp212His)
2g.98389677G>TCA347831455CNGA3c.469G>T (p.Asp157Tyr)
n.474G>T
c.481G>T (p.Asp161Tyr)
c.415G>T (p.Asp139Tyr)
c.580G>T (p.Asp194Tyr)
c.634G>T (p.Asp212Tyr)
2g.98389678A=CA1273416657CNGA3c.470A= (p.Asp157=)
n.475A=
c.482A= (p.Asp161=)
c.416A= (p.Asp139=)
c.581A= (p.Asp194=)
c.635A= (p.Asp212=)
2g.98389678A>CCA347831459CNGA3c.470A>C (p.Asp157Ala)
n.475A>C
c.482A>C (p.Asp161Ala)
c.416A>C (p.Asp139Ala)
c.581A>C (p.Asp194Ala)
c.635A>C (p.Asp212Ala)
2g.98389678A>GCA347831458CNGA3c.470A>G (p.Asp157Gly)
n.475A>G
c.482A>G (p.Asp161Gly)
c.416A>G (p.Asp139Gly)
c.581A>G (p.Asp194Gly)
c.635A>G (p.Asp212Gly)
 dbSNP
2g.98389678A>TCA347831460CNGA3c.470A>T (p.Asp157Val)
n.475A>T
c.482A>T (p.Asp161Val)
c.416A>T (p.Asp139Val)
c.581A>T (p.Asp194Val)
c.635A>T (p.Asp212Val)
2g.98389679T>ACA347831461CNGA3c.471T>A (p.Asp157Glu)
n.476T>A
c.483T>A (p.Asp161Glu)
c.417T>A (p.Asp139Glu)
c.582T>A (p.Asp194Glu)
c.636T>A (p.Asp212Glu)
2g.98389679T>CCA427567053CNGA3c.471T>C (p.Asp157=)
n.476T>C
c.483T>C (p.Asp161=)
c.417T>C (p.Asp139=)
c.582T>C (p.Asp194=)
c.636T>C (p.Asp212=)
 ClinVar gnomAD v4
2g.98389679T>GCA1793767CNGA3c.471T>G (p.Asp157Glu)
n.476T>G
c.483T>G (p.Asp161Glu)
c.417T>G (p.Asp139Glu)
c.582T>G (p.Asp194Glu)
c.636T>G (p.Asp212Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98389679T=CA1273416658CNGA3c.471T= (p.Asp157=)
n.476T=
c.483T= (p.Asp161=)
c.417T= (p.Asp139=)
c.582T= (p.Asp194=)
c.636T= (p.Asp212=)
2g.98389680G>ACA347831462CNGA3c.472G>A (p.Ala158Thr)
n.477G>A
c.484G>A (p.Ala162Thr)
c.418G>A (p.Ala140Thr)
c.583G>A (p.Ala195Thr)
c.637G>A (p.Ala213Thr)
2g.98389680G>CCA347831463CNGA3c.472G>C (p.Ala158Pro)
n.477G>C
c.484G>C (p.Ala162Pro)
c.418G>C (p.Ala140Pro)
c.583G>C (p.Ala195Pro)
c.637G>C (p.Ala213Pro)
2g.98389680G>TCA347831464CNGA3c.472G>T (p.Ala158Ser)
n.477G>T
c.484G>T (p.Ala162Ser)
c.418G>T (p.Ala140Ser)
c.583G>T (p.Ala195Ser)
c.637G>T (p.Ala213Ser)
2g.98389681C>ACA1793769CNGA3c.473C>A (p.Ala158Glu)
n.478C>A
c.485C>A (p.Ala162Glu)
c.419C>A (p.Ala140Glu)
c.584C>A (p.Ala195Glu)
c.638C>A (p.Ala213Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98389681C=CA1273416659CNGA3c.473C= (p.Ala158=)
n.478C=
c.485C= (p.Ala162=)
c.419C= (p.Ala140=)
c.584C= (p.Ala195=)
c.638C= (p.Ala213=)
2g.98389681C>GCA347831465CNGA3c.473C>G (p.Ala158Gly)
n.478C>G
c.485C>G (p.Ala162Gly)
c.419C>G (p.Ala140Gly)
c.584C>G (p.Ala195Gly)
c.638C>G (p.Ala213Gly)
2g.98389681C>TCA1793768CNGA3c.473C>T (p.Ala158Val)
n.478C>T
c.485C>T (p.Ala162Val)
c.419C>T (p.Ala140Val)
c.584C>T (p.Ala195Val)
c.638C>T (p.Ala213Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98389682G>ACA52624058CNGA3c.474G>A (p.Ala158=)
n.479G>A
c.486G>A (p.Ala162=)
c.420G>A (p.Ala140=)
c.585G>A (p.Ala195=)
c.639G>A (p.Ala213=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98389682G>CCA427567054CNGA3c.474G>C (p.Ala158=)
n.479G>C
c.486G>C (p.Ala162=)
c.420G>C (p.Ala140=)
c.585G>C (p.Ala195=)
c.639G>C (p.Ala213=)
 gnomAD v4
2g.98389682G=CA1273416660CNGA3c.474G= (p.Ala158=)
n.479G=
c.486G= (p.Ala162=)
c.420G= (p.Ala140=)
c.585G= (p.Ala195=)
c.639G= (p.Ala213=)
2g.98389682G>TCA427567055CNGA3c.474G>T (p.Ala158=)
n.479G>T
c.486G>T (p.Ala162=)
c.420G>T (p.Ala140=)
c.585G>T (p.Ala195=)
c.639G>T (p.Ala213=)
2g.98389683A>CCA347831466CNGA3c.475A>C (p.Ile159Leu)
n.480A>C
c.487A>C (p.Ile163Leu)
c.421A>C (p.Ile141Leu)
c.586A>C (p.Ile196Leu)
c.640A>C (p.Ile214Leu)
2g.98389683A>GCA347831467CNGA3c.475A>G (p.Ile159Val)
n.480A>G
c.487A>G (p.Ile163Val)
c.421A>G (p.Ile141Val)
c.586A>G (p.Ile196Val)
c.640A>G (p.Ile214Val)
2g.98389683A>TCA347831468CNGA3c.475A>T (p.Ile159Phe)
n.480A>T
c.487A>T (p.Ile163Phe)
c.421A>T (p.Ile141Phe)
c.586A>T (p.Ile196Phe)
c.640A>T (p.Ile214Phe)
2g.98389684T>ACA347831471CNGA3c.476T>A (p.Ile159Asn)
n.481T>A
c.488T>A (p.Ile163Asn)
c.422T>A (p.Ile141Asn)
c.587T>A (p.Ile196Asn)
c.641T>A (p.Ile214Asn)
2g.98389684T>CCA347831469CNGA3c.476T>C (p.Ile159Thr)
n.481T>C
c.488T>C (p.Ile163Thr)
c.422T>C (p.Ile141Thr)
c.587T>C (p.Ile196Thr)
c.641T>C (p.Ile214Thr)
2g.98389684T>GCA347831470CNGA3c.476T>G (p.Ile159Ser)
n.481T>G
c.488T>G (p.Ile163Ser)
c.422T>G (p.Ile141Ser)
c.587T>G (p.Ile196Ser)
c.641T>G (p.Ile214Ser)
2g.98389685C>ACA427567056CNGA3c.477C>A (p.Ile159=)
n.482C>A
c.489C>A (p.Ile163=)
c.423C>A (p.Ile141=)
c.588C>A (p.Ile196=)
c.642C>A (p.Ile214=)
 gnomAD v4
2g.98389685C=CA1273416661CNGA3c.477C= (p.Ile159=)
n.482C=
c.489C= (p.Ile163=)
c.423C= (p.Ile141=)
c.588C= (p.Ile196=)
c.642C= (p.Ile214=)
2g.98389685C>GCA347831472CNGA3c.477C>G (p.Ile159Met)
n.482C>G
c.489C>G (p.Ile163Met)
c.423C>G (p.Ile141Met)
c.588C>G (p.Ile196Met)
c.642C>G (p.Ile214Met)
 gnomAD v4
2g.98389685C>TCA1793770CNGA3c.477C>T (p.Ile159=)
n.482C>T
c.489C>T (p.Ile163=)
c.423C>T (p.Ile141=)
c.588C>T (p.Ile196=)
c.642C>T (p.Ile214=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98389686G>ACA1793771CNGA3c.478G>A (p.Val160Met)
n.483G>A
c.490G>A (p.Val164Met)
c.424G>A (p.Val142Met)
c.589G>A (p.Val197Met)
c.643G>A (p.Val215Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98389686G>CCA347831473CNGA3c.478G>C (p.Val160Leu)
n.483G>C
c.490G>C (p.Val164Leu)
c.424G>C (p.Val142Leu)
c.589G>C (p.Val197Leu)
c.643G>C (p.Val215Leu)
 gnomAD v4
2g.98389686G=CA1273416662CNGA3c.478G= (p.Val160=)
n.483G=
c.490G= (p.Val164=)
c.424G= (p.Val142=)
c.589G= (p.Val197=)
c.643G= (p.Val215=)
2g.98389686G>TCA347831474CNGA3c.478G>T (p.Val160Leu)
n.483G>T
c.490G>T (p.Val164Leu)
c.424G>T (p.Val142Leu)
c.589G>T (p.Val197Leu)
c.643G>T (p.Val215Leu)
2g.98389687T>ACA347831475CNGA3c.479T>A (p.Val160Glu)
n.484T>A
c.491T>A (p.Val164Glu)
c.425T>A (p.Val142Glu)
c.590T>A (p.Val197Glu)
c.644T>A (p.Val215Glu)
2g.98389687T>CCA1793772CNGA3c.479T>C (p.Val160Ala)
n.484T>C
c.491T>C (p.Val164Ala)
c.425T>C (p.Val142Ala)
c.590T>C (p.Val197Ala)
c.644T>C (p.Val215Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98389687T>GCA347831476CNGA3c.479T>G (p.Val160Gly)
n.484T>G
c.491T>G (p.Val164Gly)
c.425T>G (p.Val142Gly)
c.590T>G (p.Val197Gly)
c.644T>G (p.Val215Gly)
 ClinVar dbSNP
2g.98389687T=CA1273416663CNGA3c.479T= (p.Val160=)
n.484T=
c.491T= (p.Val164=)
c.425T= (p.Val142=)
c.590T= (p.Val197=)
c.644T= (p.Val215=)
2g.98389688G>ACA427567057CNGA3c.480G>A (p.Val160=)
n.485G>A
c.492G>A (p.Val164=)
c.426G>A (p.Val142=)
c.591G>A (p.Val197=)
c.645G>A (p.Val215=)
2g.98389688G>CCA427567058CNGA3c.480G>C (p.Val160=)
n.485G>C
c.492G>C (p.Val164=)
c.426G>C (p.Val142=)
c.591G>C (p.Val197=)
c.645G>C (p.Val215=)
2g.98389688G>TCA427567059CNGA3c.480G>T (p.Val160=)
n.485G>T
c.492G>T (p.Val164=)
c.426G>T (p.Val142=)
c.591G>T (p.Val197=)
c.645G>T (p.Val215=)
2g.98389689G>ACA347831477CNGA3c.481G>A (p.Val161Met)
n.486G>A
c.493G>A (p.Val165Met)
c.427G>A (p.Val143Met)
c.592G>A (p.Val198Met)
c.646G>A (p.Val216Met)
 dbSNP gnomAD v3 gnomAD v4
2g.98389689G>CCA347831478CNGA3c.481G>C (p.Val161Leu)
n.486G>C
c.493G>C (p.Val165Leu)
c.427G>C (p.Val143Leu)
c.592G>C (p.Val198Leu)
c.646G>C (p.Val216Leu)
2g.98389689G=CA1273416664CNGA3c.481G= (p.Val161=)
n.486G=
c.493G= (p.Val165=)
c.427G= (p.Val143=)
c.592G= (p.Val198=)
c.646G= (p.Val216=)
2g.98389689G>TCA347831479CNGA3c.481G>T (p.Val161Leu)
n.486G>T
c.493G>T (p.Val165Leu)
c.427G>T (p.Val143Leu)
c.592G>T (p.Val198Leu)
c.646G>T (p.Val216Leu)
 gnomAD v4
2g.98389690T>ACA347831481CNGA3c.482T>A (p.Val161Glu)
n.487T>A
c.494T>A (p.Val165Glu)
c.428T>A (p.Val143Glu)
c.593T>A (p.Val198Glu)
c.647T>A (p.Val216Glu)
2g.98389690T>CCA347831482CNGA3c.482T>C (p.Val161Ala)
n.487T>C
c.494T>C (p.Val165Ala)
c.428T>C (p.Val143Ala)
c.593T>C (p.Val198Ala)
c.647T>C (p.Val216Ala)
2g.98389690T>GCA347831480CNGA3c.482T>G (p.Val161Gly)
n.487T>G
c.494T>G (p.Val165Gly)
c.428T>G (p.Val143Gly)
c.593T>G (p.Val198Gly)
c.647T>G (p.Val216Gly)
2g.98389690_98389691delinsTGCA1273416665CNGA3c.482_483delinsTG (p.Val161=)
n.487_488delinsTG
c.494_495delinsTG (p.Val165=)
c.428_429delinsTG (p.Val143=)
c.593_594delinsTG (p.Val198=)
c.647_648delinsTG (p.Val216=)
2g.98389691G>ACA1793773CNGA3c.483G>A (p.Val161=)
n.488G>A
c.495G>A (p.Val165=)
c.429G>A (p.Val143=)
c.594G>A (p.Val198=)
c.648G>A (p.Val216=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.98389691G>CCA427567060CNGA3c.483G>C (p.Val161=)
n.488G>C
c.495G>C (p.Val165=)
c.429G>C (p.Val143=)
c.594G>C (p.Val198=)
c.648G>C (p.Val216=)
 dbSNP gnomAD v2
2g.98389691G=CA1273416666CNGA3c.483G= (p.Val161=)
n.488G=
c.495G= (p.Val165=)
c.429G= (p.Val143=)
c.594G= (p.Val198=)
c.648G= (p.Val216=)
2g.98389691G>TCA427567061CNGA3c.483G>T (p.Val161=)
n.488G>T
c.495G>T (p.Val165=)
c.429G>T (p.Val143=)
c.594G>T (p.Val198=)
c.648G>T (p.Val216=)
2g.98389692delCA52624070CNGA3c.484del (p.Asp162ThrfsTer11)
n.489del
c.496del (p.Asp166ThrfsTer11)
c.430del (p.Asp144ThrfsTer11)
c.595del (p.Asp199ThrfsTer11)
c.649del (p.Asp217ThrfsTer11)
 ClinVar dbSNP gnomAD v4
2g.98389692G>ACA347831483CNGA3c.484G>A (p.Asp162Asn)
n.489G>A
c.496G>A (p.Asp166Asn)
c.430G>A (p.Asp144Asn)
c.595G>A (p.Asp199Asn)
c.649G>A (p.Asp217Asn)
2g.98389692G>CCA1793774CNGA3c.484G>C (p.Asp162His)
n.489G>C
c.496G>C (p.Asp166His)
c.430G>C (p.Asp144His)
c.595G>C (p.Asp199His)
c.649G>C (p.Asp217His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98389692G=CA1273416667CNGA3c.484G= (p.Asp162=)
n.489G=
c.496G= (p.Asp166=)
c.430G= (p.Asp144=)
c.595G= (p.Asp199=)
c.649G= (p.Asp217=)
2g.98389692G>TCA347831484CNGA3c.484G>T (p.Asp162Tyr)
n.489G>T
c.496G>T (p.Asp166Tyr)
c.430G>T (p.Asp144Tyr)
c.595G>T (p.Asp199Tyr)
c.649G>T (p.Asp217Tyr)
2g.98389693A=CA1273416668CNGA3c.485A= (p.Asp162=)
n.490A=
c.497A= (p.Asp166=)
c.431A= (p.Asp144=)
c.596A= (p.Asp199=)
c.650A= (p.Asp217=)
2g.98389693A>CCA347831485CNGA3c.485A>C (p.Asp162Ala)
n.490A>C
c.497A>C (p.Asp166Ala)
c.431A>C (p.Asp144Ala)
c.596A>C (p.Asp199Ala)
c.650A>C (p.Asp217Ala)
 dbSNP
2g.98389693A>GCA347831486CNGA3c.485A>G (p.Asp162Gly)
n.490A>G
c.497A>G (p.Asp166Gly)
c.431A>G (p.Asp144Gly)
c.596A>G (p.Asp199Gly)
c.650A>G (p.Asp217Gly)
 gnomAD v4
2g.98389693A>TCA1793775CNGA3c.485A>T (p.Asp162Val)
n.490A>T
c.497A>T (p.Asp166Val)
c.431A>T (p.Asp144Val)
c.596A>T (p.Asp199Val)
c.650A>T (p.Asp217Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98389694C>ACA347831487CNGA3c.486C>A (p.Asp162Glu)
n.491C>A
c.498C>A (p.Asp166Glu)
c.432C>A (p.Asp144Glu)
c.597C>A (p.Asp199Glu)
c.651C>A (p.Asp217Glu)
2g.98389694C>GCA347831488CNGA3c.486C>G (p.Asp162Glu)
n.491C>G
c.498C>G (p.Asp166Glu)
c.432C>G (p.Asp144Glu)
c.597C>G (p.Asp199Glu)
c.651C>G (p.Asp217Glu)
2g.98389694C>TCA427567062CNGA3c.486C>T (p.Asp162=)
n.491C>T
c.498C>T (p.Asp166=)
c.432C>T (p.Asp144=)
c.597C>T (p.Asp199=)
c.651C>T (p.Asp217=)
2g.98389694_98389698delinsCCCGTCA1273416669CNGA3c.486_490delinsCCCGT (p.Asp162=)
n.491_495delinsCCCGT
c.498_502delinsCCCGT (p.Asp166=)
c.432_436delinsCCCGT (p.Asp144=)
c.597_601delinsCCCGT (p.Asp199=)
c.651_655delinsCCCGT (p.Asp217=)
2g.98389695C>ACA347831489CNGA3c.487C>A (p.Pro163Thr)
n.492C>A
c.499C>A (p.Pro167Thr)
c.433C>A (p.Pro145Thr)
c.598C>A (p.Pro200Thr)
c.652C>A (p.Pro218Thr)
 ClinVar
2g.98389695C>GCA347831490CNGA3c.487C>G (p.Pro163Ala)
n.492C>G
c.499C>G (p.Pro167Ala)
c.433C>G (p.Pro145Ala)
c.598C>G (p.Pro200Ala)
c.652C>G (p.Pro218Ala)
2g.98389695C>TCA347831491CNGA3c.487C>T (p.Pro163Ser)
n.492C>T
c.499C>T (p.Pro167Ser)
c.433C>T (p.Pro145Ser)
c.598C>T (p.Pro200Ser)
c.652C>T (p.Pro218Ser)
 COSMIC
2g.98389697_98389700delCA52624090CNGA3c.489_492del (p.Ser164AlafsTer8)
n.494_497del
c.501_504del (p.Ser168AlafsTer8)
c.435_438del (p.Ser146AlafsTer8)
c.600_603del (p.Ser201AlafsTer8)
c.654_657del (p.Ser219AlafsTer8)
 ClinVar dbSNP gnomAD v4
2g.98389696C>ACA347831493CNGA3c.488C>A (p.Pro163Gln)
n.493C>A
c.500C>A (p.Pro167Gln)
c.434C>A (p.Pro145Gln)
c.599C>A (p.Pro200Gln)
c.653C>A (p.Pro218Gln)
 ClinVar gnomAD v4 COSMIC
2g.98389696C=CA1273416670CNGA3c.488C= (p.Pro163=)
n.493C=
c.500C= (p.Pro167=)
c.434C= (p.Pro145=)
c.599C= (p.Pro200=)
c.653C= (p.Pro218=)
2g.98389696C>GCA347831492CNGA3c.488C>G (p.Pro163Arg)
n.493C>G
c.500C>G (p.Pro167Arg)
c.434C>G (p.Pro145Arg)
c.599C>G (p.Pro200Arg)
c.653C>G (p.Pro218Arg)
2g.98389696C>TCA254819CNGA3c.488C>T (p.Pro163Leu)
n.493C>T
c.500C>T (p.Pro167Leu)
c.434C>T (p.Pro145Leu)
c.599C>T (p.Pro200Leu)
c.653C>T (p.Pro218Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98389697G>ACA1793776CNGA3c.489G>A (p.Pro163=)
n.494G>A
c.501G>A (p.Pro167=)
c.435G>A (p.Pro145=)
c.600G>A (p.Pro200=)
c.654G>A (p.Pro218=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98389697G>CCA427567063CNGA3c.489G>C (p.Pro163=)
n.494G>C
c.501G>C (p.Pro167=)
c.435G>C (p.Pro145=)
c.600G>C (p.Pro200=)
c.654G>C (p.Pro218=)
2g.98389697G=CA1273416671CNGA3c.489G= (p.Pro163=)
n.494G=
c.501G= (p.Pro167=)
c.435G= (p.Pro145=)
c.600G= (p.Pro200=)
c.654G= (p.Pro218=)
2g.98389697G>TCA427567064CNGA3c.489G>T (p.Pro163=)
n.494G>T
c.501G>T (p.Pro167=)
c.435G>T (p.Pro145=)
c.600G>T (p.Pro200=)
c.654G>T (p.Pro218=)
2g.98389698T>ACA347831494CNGA3c.490T>A (p.Ser164Thr)
n.495T>A
c.502T>A (p.Ser168Thr)
c.436T>A (p.Ser146Thr)
c.601T>A (p.Ser201Thr)
c.655T>A (p.Ser219Thr)
2g.98389698T>CCA347831495CNGA3c.490T>C (p.Ser164Pro)
n.495T>C
c.502T>C (p.Ser168Pro)
c.436T>C (p.Ser146Pro)
c.601T>C (p.Ser201Pro)
c.655T>C (p.Ser219Pro)
 dbSNP
2g.98389698T>GCA347831496CNGA3c.490T>G (p.Ser164Ala)
n.495T>G
c.502T>G (p.Ser168Ala)
c.436T>G (p.Ser146Ala)
c.601T>G (p.Ser201Ala)
c.655T>G (p.Ser219Ala)
2g.98389698T=CA1273416672CNGA3c.490T= (p.Ser164=)
n.495T=
c.502T= (p.Ser168=)
c.436T= (p.Ser146=)
c.601T= (p.Ser201=)
c.655T= (p.Ser219=)
2g.98389699C>ACA347831497CNGA3c.491C>A (p.Ser164Tyr)
n.496C>A
c.503C>A (p.Ser168Tyr)
c.437C>A (p.Ser146Tyr)
c.602C>A (p.Ser201Tyr)
c.656C>A (p.Ser219Tyr)
2g.98389699C=CA1273416673CNGA3c.491C= (p.Ser164=)
n.496C=
c.503C= (p.Ser168=)
c.437C= (p.Ser146=)
c.602C= (p.Ser201=)
c.656C= (p.Ser219=)
2g.98389699C>GCA347831498CNGA3c.491C>G (p.Ser164Cys)
n.496C>G
c.503C>G (p.Ser168Cys)
c.437C>G (p.Ser146Cys)
c.602C>G (p.Ser201Cys)
c.656C>G (p.Ser219Cys)
2g.98389699C>TCA52624103CNGA3c.491C>T (p.Ser164Phe)
n.496C>T
c.503C>T (p.Ser168Phe)
c.437C>T (p.Ser146Phe)
c.602C>T (p.Ser201Phe)
c.656C>T (p.Ser219Phe)
 dbSNP gnomAD v4
2g.98389700C>ACA427567065CNGA3c.492C>A (p.Ser164=)
n.497C>A
c.504C>A (p.Ser168=)
c.438C>A (p.Ser146=)
c.603C>A (p.Ser201=)
c.657C>A (p.Ser219=)
2g.98389700C=CA1273416674CNGA3c.492C= (p.Ser164=)
n.497C=
c.504C= (p.Ser168=)
c.438C= (p.Ser146=)
c.603C= (p.Ser201=)
c.657C= (p.Ser219=)
2g.98389700C>GCA427567066CNGA3c.492C>G (p.Ser164=)
n.497C>G
c.504C>G (p.Ser168=)
c.438C>G (p.Ser146=)
c.603C>G (p.Ser201=)
c.657C>G (p.Ser219=)
2g.98389700C>TCA427567067CNGA3c.492C>T (p.Ser164=)
n.497C>T
c.504C>T (p.Ser168=)
c.438C>T (p.Ser146=)
c.603C>T (p.Ser201=)
c.657C>T (p.Ser219=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98389701A>CCA347831499CNGA3c.493A>C (p.Ser165Arg)
n.498A>C
c.505A>C (p.Ser169Arg)
c.439A>C (p.Ser147Arg)
c.604A>C (p.Ser202Arg)
c.658A>C (p.Ser220Arg)
2g.98389701A>GCA347831500CNGA3c.493A>G (p.Ser165Gly)
n.498A>G
c.505A>G (p.Ser169Gly)
c.439A>G (p.Ser147Gly)
c.604A>G (p.Ser202Gly)
c.658A>G (p.Ser220Gly)
2g.98389701A>TCA347831501CNGA3c.493A>T (p.Ser165Cys)
n.498A>T
c.505A>T (p.Ser169Cys)
c.439A>T (p.Ser147Cys)
c.604A>T (p.Ser202Cys)
c.658A>T (p.Ser220Cys)
2g.98389702G>ACA347831502CNGA3c.494G>A (p.Ser165Asn)
n.499G>A
c.506G>A (p.Ser169Asn)
c.440G>A (p.Ser147Asn)
c.605G>A (p.Ser202Asn)
c.659G>A (p.Ser220Asn)
 gnomAD v4
2g.98389702G>CCA347831503CNGA3c.494G>C (p.Ser165Thr)
n.499G>C
c.506G>C (p.Ser169Thr)
c.440G>C (p.Ser147Thr)
c.605G>C (p.Ser202Thr)
c.659G>C (p.Ser220Thr)
2g.98389702G>TCA347831504CNGA3c.494G>T (p.Ser165Ile)
n.499G>T
c.506G>T (p.Ser169Ile)
c.440G>T (p.Ser147Ile)
c.605G>T (p.Ser202Ile)
c.659G>T (p.Ser220Ile)
2g.98389703C>ACA347831506CNGA3c.495C>A (p.Ser165Arg)
n.500C>A
c.507C>A (p.Ser169Arg)
c.441C>A (p.Ser147Arg)
c.606C>A (p.Ser202Arg)
c.660C>A (p.Ser220Arg)
2g.98389703C=CA1273416675CNGA3c.495C= (p.Ser165=)
n.500C=
c.507C= (p.Ser169=)
c.441C= (p.Ser147=)
c.606C= (p.Ser202=)
c.660C= (p.Ser220=)
2g.98389703C>GCA347831505CNGA3c.495C>G (p.Ser165Arg)
n.500C>G
c.507C>G (p.Ser169Arg)
c.441C>G (p.Ser147Arg)
c.606C>G (p.Ser202Arg)
c.660C>G (p.Ser220Arg)
2g.98389703C>TCA427567068CNGA3c.495C>T (p.Ser165=)
n.500C>T
c.507C>T (p.Ser169=)
c.441C>T (p.Ser147=)
c.606C>T (p.Ser202=)
c.660C>T (p.Ser220=)
 ClinVar dbSNP gnomAD v4
2g.98389704A=CA1273416676CNGA3c.496A= (p.Asn166=)
n.501A=
c.508A= (p.Asn170=)
c.442A= (p.Asn148=)
c.607A= (p.Asn203=)
c.661A= (p.Asn221=)
2g.98389704A>CCA347831507CNGA3c.496A>C (p.Asn166His)
n.501A>C
c.508A>C (p.Asn170His)
c.442A>C (p.Asn148His)
c.607A>C (p.Asn203His)
c.661A>C (p.Asn221His)
2g.98389704A>GCA347831508CNGA3c.496A>G (p.Asn166Asp)
n.501A>G
c.508A>G (p.Asn170Asp)
c.442A>G (p.Asn148Asp)
c.607A>G (p.Asn203Asp)
c.661A>G (p.Asn221Asp)
2g.98389704A>TCA52624107CNGA3c.496A>T (p.Asn166Tyr)
n.501A>T
c.508A>T (p.Asn170Tyr)
c.442A>T (p.Asn148Tyr)
c.607A>T (p.Asn203Tyr)
c.661A>T (p.Asn221Tyr)
 dbSNP
2g.98389705A=CA1273416677CNGA3c.497A= (p.Asn166=)
n.502A=
c.509A= (p.Asn170=)
c.443A= (p.Asn148=)
c.608A= (p.Asn203=)
c.662A= (p.Asn221=)
2g.98389705A>CCA347831509CNGA3c.497A>C (p.Asn166Thr)
n.502A>C
c.509A>C (p.Asn170Thr)
c.443A>C (p.Asn148Thr)
c.608A>C (p.Asn203Thr)
c.662A>C (p.Asn221Thr)
 dbSNP
2g.98389705A>GCA347831510CNGA3c.497A>G (p.Asn166Ser)
n.502A>G
c.509A>G (p.Asn170Ser)
c.443A>G (p.Asn148Ser)
c.608A>G (p.Asn203Ser)
c.662A>G (p.Asn221Ser)
2g.98389705A>TCA347831511CNGA3c.497A>T (p.Asn166Ile)
n.502A>T
c.509A>T (p.Asn170Ile)
c.443A>T (p.Asn148Ile)
c.608A>T (p.Asn203Ile)
c.662A>T (p.Asn221Ile)
2g.98389705_98389706delinsACCA1273416678CNGA3c.497_498delinsAC (p.Asn166=)
n.502_503delinsAC
c.509_510delinsAC (p.Asn170=)
c.443_444delinsAC (p.Asn148=)
c.608_609delinsAC (p.Asn203=)
c.662_663delinsAC (p.Asn221=)
2g.98389706C>ACA347831512CNGA3c.498C>A (p.Asn166Lys)
n.503C>A
c.510C>A (p.Asn170Lys)
c.444C>A (p.Asn148Lys)
c.609C>A (p.Asn203Lys)
c.663C>A (p.Asn221Lys)
2g.98389706C=CA1273416679CNGA3c.498C= (p.Asn166=)
n.503C=
c.510C= (p.Asn170=)
c.444C= (p.Asn148=)
c.609C= (p.Asn203=)
c.663C= (p.Asn221=)
2g.98389706C>GCA347831513CNGA3c.498C>G (p.Asn166Lys)
n.503C>G
c.510C>G (p.Asn170Lys)
c.444C>G (p.Asn148Lys)
c.609C>G (p.Asn203Lys)
c.663C>G (p.Asn221Lys)
2g.98389706C>TCA427567069CNGA3c.498C>T (p.Asn166=)
n.503C>T
c.510C>T (p.Asn170=)
c.444C>T (p.Asn148=)
c.609C>T (p.Asn203=)
c.663C>T (p.Asn221=)
 dbSNP
2g.98389707delCA1139657166CNGA3c.499del (p.Leu167CysfsTer6)
n.504del
c.511del (p.Leu171CysfsTer6)
c.445del (p.Leu149CysfsTer6)
c.610del (p.Leu204CysfsTer6)
c.664del (p.Leu222CysfsTer6)
 ClinVar dbSNP
2g.98389707C>ACA347831514CNGA3c.499C>A (p.Leu167Met)
n.504C>A
c.511C>A (p.Leu171Met)
c.445C>A (p.Leu149Met)
c.610C>A (p.Leu204Met)
c.664C>A (p.Leu222Met)
2g.98389707C=CA1273416680CNGA3c.499C= (p.Leu167=)
n.504C=
c.511C= (p.Leu171=)
c.445C= (p.Leu149=)
c.610C= (p.Leu204=)
c.664C= (p.Leu222=)
2g.98389707C>GCA347831515CNGA3c.499C>G (p.Leu167Val)
n.504C>G
c.511C>G (p.Leu171Val)
c.445C>G (p.Leu149Val)
c.610C>G (p.Leu204Val)
c.664C>G (p.Leu222Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98389707C>TCA427567070CNGA3c.499C>T (p.Leu167=)
n.504C>T
c.511C>T (p.Leu171=)
c.445C>T (p.Leu149=)
c.610C>T (p.Leu204=)
c.664C>T (p.Leu222=)
 gnomAD v4
2g.98389708T>ACA347831516CNGA3c.500T>A (p.Leu167Gln)
n.505T>A
c.512T>A (p.Leu171Gln)
c.446T>A (p.Leu149Gln)
c.611T>A (p.Leu204Gln)
c.665T>A (p.Leu222Gln)
2g.98389708T>CCA347831517CNGA3c.500T>C (p.Leu167Pro)
n.505T>C
c.512T>C (p.Leu171Pro)
c.446T>C (p.Leu149Pro)
c.611T>C (p.Leu204Pro)
c.665T>C (p.Leu222Pro)
2g.98389708T>GCA347831518CNGA3c.500T>G (p.Leu167Arg)
n.505T>G
c.512T>G (p.Leu171Arg)
c.446T>G (p.Leu149Arg)
c.611T>G (p.Leu204Arg)
c.665T>G (p.Leu222Arg)
2g.98389709G>ACA427567071CNGA3c.501G>A (p.Leu167=)
n.506G>A
c.513G>A (p.Leu171=)
c.447G>A (p.Leu149=)
c.612G>A (p.Leu204=)
c.666G>A (p.Leu222=)
2g.98389709G>CCA427567072CNGA3c.501G>C (p.Leu167=)
n.506G>C
c.513G>C (p.Leu171=)
c.447G>C (p.Leu149=)
c.612G>C (p.Leu204=)
c.666G>C (p.Leu222=)
2g.98389709G>TCA427567073CNGA3c.501G>T (p.Leu167=)
n.506G>T
c.513G>T (p.Leu171=)
c.447G>T (p.Leu149=)
c.612G>T (p.Leu204=)
c.666G>T (p.Leu222=)
2g.98389710T>ACA347831519CNGA3c.502T>A (p.Tyr168Asn)
n.507T>A
c.514T>A (p.Tyr172Asn)
c.448T>A (p.Tyr150Asn)
c.613T>A (p.Tyr205Asn)
c.667T>A (p.Tyr223Asn)
2g.98389710T>CCA347831520CNGA3c.502T>C (p.Tyr168His)
n.507T>C
c.514T>C (p.Tyr172His)
c.448T>C (p.Tyr150His)
c.613T>C (p.Tyr205His)
c.667T>C (p.Tyr223His)
 ClinVar dbSNP
2g.98389710T>GCA347831521CNGA3c.502T>G (p.Tyr168Asp)
n.507T>G
c.514T>G (p.Tyr172Asp)
c.448T>G (p.Tyr150Asp)
c.613T>G (p.Tyr205Asp)
c.667T>G (p.Tyr223Asp)
2g.98389711A>CCA347831522CNGA3c.503A>C (p.Tyr168Ser)
n.508A>C
c.515A>C (p.Tyr172Ser)
c.449A>C (p.Tyr150Ser)
c.614A>C (p.Tyr205Ser)
c.668A>C (p.Tyr223Ser)
2g.98389711A>GCA347831524CNGA3c.503A>G (p.Tyr168Cys)
n.508A>G
c.515A>G (p.Tyr172Cys)
c.449A>G (p.Tyr150Cys)
c.614A>G (p.Tyr205Cys)
c.668A>G (p.Tyr223Cys)
2g.98389711A>TCA347831523CNGA3c.503A>T (p.Tyr168Phe)
n.508A>T
c.515A>T (p.Tyr172Phe)
c.449A>T (p.Tyr150Phe)
c.614A>T (p.Tyr205Phe)
c.668A>T (p.Tyr223Phe)
2g.98389712C>ACA347831525CNGA3c.504C>A (p.Tyr168Ter)
n.509C>A
c.516C>A (p.Tyr172Ter)
c.450C>A (p.Tyr150Ter)
c.615C>A (p.Tyr205Ter)
c.669C>A (p.Tyr223Ter)
2g.98389712C>GCA347831526CNGA3c.504C>G (p.Tyr168Ter)
n.509C>G
c.516C>G (p.Tyr172Ter)
c.450C>G (p.Tyr150Ter)
c.615C>G (p.Tyr205Ter)
c.669C>G (p.Tyr223Ter)
2g.98389712C>TCA427567074CNGA3c.504C>T (p.Tyr168=)
n.509C>T
c.516C>T (p.Tyr172=)
c.450C>T (p.Tyr150=)
c.615C>T (p.Tyr205=)
c.669C>T (p.Tyr223=)
2g.98389713delCA2660314953CNGA3c.505del (p.Tyr169ThrfsTer4)
n.510del
c.517del (p.Tyr173ThrfsTer4)
c.451del (p.Tyr151ThrfsTer4)
c.616del (p.Tyr206ThrfsTer4)
c.670del (p.Tyr224ThrfsTer4)
 gnomAD v4
2g.98389713T>ACA347831527CNGA3c.505T>A (p.Tyr169Asn)
n.510T>A
c.517T>A (p.Tyr173Asn)
c.451T>A (p.Tyr151Asn)
c.616T>A (p.Tyr206Asn)
c.670T>A (p.Tyr224Asn)
2g.98389713T>CCA347831528CNGA3c.505T>C (p.Tyr169His)
n.510T>C
c.517T>C (p.Tyr173His)
c.451T>C (p.Tyr151His)
c.616T>C (p.Tyr206His)
c.670T>C (p.Tyr224His)
 gnomAD v4
2g.98389713T>GCA347831529CNGA3c.505T>G (p.Tyr169Asp)
n.510T>G
c.517T>G (p.Tyr173Asp)
c.451T>G (p.Tyr151Asp)
c.616T>G (p.Tyr206Asp)
c.670T>G (p.Tyr224Asp)
2g.98389714A=CA1273416681CNGA3c.506A= (p.Tyr169=)
n.511A=
c.518A= (p.Tyr173=)
c.452A= (p.Tyr151=)
c.617A= (p.Tyr206=)
c.671A= (p.Tyr224=)
2g.98389714A>CCA347831530CNGA3c.506A>C (p.Tyr169Ser)
n.511A>C
c.518A>C (p.Tyr173Ser)
c.452A>C (p.Tyr151Ser)
c.617A>C (p.Tyr206Ser)
c.671A>C (p.Tyr224Ser)
 dbSNP
2g.98389714A>GCA347831531CNGA3c.506A>G (p.Tyr169Cys)
n.511A>G
c.518A>G (p.Tyr173Cys)
c.452A>G (p.Tyr151Cys)
c.617A>G (p.Tyr206Cys)
c.671A>G (p.Tyr224Cys)
2g.98389714A>TCA347831532CNGA3c.506A>T (p.Tyr169Phe)
n.511A>T
c.518A>T (p.Tyr173Phe)
c.452A>T (p.Tyr151Phe)
c.617A>T (p.Tyr206Phe)
c.671A>T (p.Tyr224Phe)
2g.98389715C>ACA347831533CNGA3c.507C>A (p.Tyr169Ter)
n.512C>A
c.519C>A (p.Tyr173Ter)
c.453C>A (p.Tyr151Ter)
c.618C>A (p.Tyr206Ter)
c.672C>A (p.Tyr224Ter)
2g.98389715C>GCA347831534CNGA3c.507C>G (p.Tyr169Ter)
n.512C>G
c.519C>G (p.Tyr173Ter)
c.453C>G (p.Tyr151Ter)
c.618C>G (p.Tyr206Ter)
c.672C>G (p.Tyr224Ter)
 gnomAD v4
2g.98389715C>TCA427567075CNGA3c.507C>T (p.Tyr169=)
n.512C>T
c.519C>T (p.Tyr173=)
c.453C>T (p.Tyr151=)
c.618C>T (p.Tyr206=)
c.672C>T (p.Tyr224=)
2g.98389716delCA2751373488CNGA3c.508del (p.Arg170AlafsTer3)
n.513del
c.520del (p.Arg174AlafsTer3)
c.454del (p.Arg152AlafsTer3)
c.619del (p.Arg207AlafsTer3)
c.673del (p.Arg225AlafsTer3)
2g.98389716C>ACA1793777CNGA3c.508C>A (p.Arg170Ser)
n.513C>A
c.520C>A (p.Arg174Ser)
c.454C>A (p.Arg152Ser)
c.619C>A (p.Arg207Ser)
c.673C>A (p.Arg225Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98389716C=CA1273416682CNGA3c.508C= (p.Arg170=)
n.513C=
c.520C= (p.Arg174=)
c.454C= (p.Arg152=)
c.619C= (p.Arg207=)
c.673C= (p.Arg225=)
2g.98389716C>GCA347831535CNGA3c.508C>G (p.Arg170Gly)
n.513C>G
c.520C>G (p.Arg174Gly)
c.454C>G (p.Arg152Gly)
c.619C>G (p.Arg207Gly)
c.673C>G (p.Arg225Gly)
2g.98389716C>TCA246626CNGA3c.508C>T (p.Arg170Cys)
n.513C>T
c.520C>T (p.Arg174Cys)
c.454C>T (p.Arg152Cys)
c.619C>T (p.Arg207Cys)
c.673C>T (p.Arg225Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98389717G>ACA1793778CNGA3c.509G>A (p.Arg170His)
n.514G>A
c.521G>A (p.Arg174His)
c.455G>A (p.Arg152His)
c.620G>A (p.Arg207His)
c.674G>A (p.Arg225His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98389717G>CCA347831536CNGA3c.509G>C (p.Arg170Pro)
n.514G>C
c.521G>C (p.Arg174Pro)
c.455G>C (p.Arg152Pro)
c.620G>C (p.Arg207Pro)
c.674G>C (p.Arg225Pro)
2g.98389717G=CA1273416683CNGA3c.509G= (p.Arg170=)
n.514G=
c.521G= (p.Arg174=)
c.455G= (p.Arg152=)
c.620G= (p.Arg207=)
c.674G= (p.Arg225=)
2g.98389717G>TCA347831537CNGA3c.509G>T (p.Arg170Leu)
n.514G>T
c.521G>T (p.Arg174Leu)
c.455G>T (p.Arg152Leu)
c.620G>T (p.Arg207Leu)
c.674G>T (p.Arg225Leu)
 ClinVar dbSNP
2g.98389718delCA2660314954CNGA3c.510del (p.Trp171GlyfsTer2)
n.515del
c.522del (p.Trp175GlyfsTer2)
c.456del (p.Trp153GlyfsTer2)
c.621del (p.Trp208GlyfsTer2)
c.675del (p.Trp226GlyfsTer2)
 gnomAD v4
2g.98389718C>ACA427567076CNGA3c.510C>A (p.Arg170=)
n.515C>A
c.522C>A (p.Arg174=)
c.456C>A (p.Arg152=)
c.621C>A (p.Arg207=)
c.675C>A (p.Arg225=)
2g.98389718C>GCA427567078CNGA3c.510C>G (p.Arg170=)
n.515C>G
c.522C>G (p.Arg174=)
c.456C>G (p.Arg152=)
c.621C>G (p.Arg207=)
c.675C>G (p.Arg225=)
2g.98389718C>TCA427567077CNGA3c.510C>T (p.Arg170=)
n.515C>T
c.522C>T (p.Arg174=)
c.456C>T (p.Arg152=)
c.621C>T (p.Arg207=)
c.675C>T (p.Arg225=)
2g.98389719T>ACA347831538CNGA3c.511T>A (p.Trp171Arg)
n.516T>A
c.523T>A (p.Trp175Arg)
c.457T>A (p.Trp153Arg)
c.622T>A (p.Trp208Arg)
c.676T>A (p.Trp226Arg)
2g.98389719T>CCA347831539CNGA3c.511T>C (p.Trp171Arg)
n.516T>C
c.523T>C (p.Trp175Arg)
c.457T>C (p.Trp153Arg)
c.622T>C (p.Trp208Arg)
c.676T>C (p.Trp226Arg)
2g.98389719T>GCA347831540CNGA3c.511T>G (p.Trp171Gly)
n.516T>G
c.523T>G (p.Trp175Gly)
c.457T>G (p.Trp153Gly)
c.622T>G (p.Trp208Gly)
c.676T>G (p.Trp226Gly)
2g.98389720G>ACA347831543CNGA3c.512G>A (p.Trp171Ter)
n.517G>A
c.524G>A (p.Trp175Ter)
c.458G>A (p.Trp153Ter)
c.623G>A (p.Trp208Ter)
c.677G>A (p.Trp226Ter)
 gnomAD v4
2g.98389720G>CCA347831541CNGA3c.512G>C (p.Trp171Ser)
n.517G>C
c.524G>C (p.Trp175Ser)
c.458G>C (p.Trp153Ser)
c.623G>C (p.Trp208Ser)
c.677G>C (p.Trp226Ser)
2g.98389720G>TCA347831542CNGA3c.512G>T (p.Trp171Leu)
n.517G>T
c.524G>T (p.Trp175Leu)
c.458G>T (p.Trp153Leu)
c.623G>T (p.Trp208Leu)
c.677G>T (p.Trp226Leu)
2g.98389721G>ACA347831544CNGA3c.513G>A (p.Trp171Ter)
n.518G>A
c.525G>A (p.Trp175Ter)
c.459G>A (p.Trp153Ter)
c.624G>A (p.Trp208Ter)
c.678G>A (p.Trp226Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98389721G>CCA347831545CNGA3c.513G>C (p.Trp171Cys)
n.518G>C
c.525G>C (p.Trp175Cys)
c.459G>C (p.Trp153Cys)
c.624G>C (p.Trp208Cys)
c.678G>C (p.Trp226Cys)
2g.98389721G=CA1273416684CNGA3c.513G= (p.Trp171=)
n.518G=
c.525G= (p.Trp175=)
c.459G= (p.Trp153=)
c.624G= (p.Trp208=)
c.678G= (p.Trp226=)
2g.98389721G>TCA1793779CNGA3c.513G>T (p.Trp171Cys)
n.518G>T
c.525G>T (p.Trp175Cys)
c.459G>T (p.Trp153Cys)
c.624G>T (p.Trp208Cys)
c.678G>T (p.Trp226Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98389722_98389724delCA2660314955CNGA3c.514_516del (p.Leu172del)
n.519_521del
c.526_528del (p.Leu176del)
c.460_462del (p.Leu154del)
c.625_627del (p.Leu209del)
c.679_681del (p.Leu227del)
 gnomAD v4
2g.98389722C>ACA347831546CNGA3c.514C>A (p.Leu172Met)
n.519C>A
c.526C>A (p.Leu176Met)
c.460C>A (p.Leu154Met)
c.625C>A (p.Leu209Met)
c.679C>A (p.Leu227Met)
2g.98389722C=CA1273416685CNGA3c.514C= (p.Leu172=)
n.519C=
c.526C= (p.Leu176=)
c.460C= (p.Leu154=)
c.625C= (p.Leu209=)
c.679C= (p.Leu227=)
2g.98389722C>GCA52624119CNGA3c.514C>G (p.Leu172Val)
n.519C>G
c.526C>G (p.Leu176Val)
c.460C>G (p.Leu154Val)
c.625C>G (p.Leu209Val)
c.679C>G (p.Leu227Val)
 dbSNP gnomAD v3 gnomAD v4
2g.98389722C>TCA427567079CNGA3c.514C>T (p.Leu172=)
n.519C>T
c.526C>T (p.Leu176=)
c.460C>T (p.Leu154=)
c.625C>T (p.Leu209=)
c.679C>T (p.Leu227=)
 gnomAD v4
2g.98389723T>ACA347831547CNGA3c.515T>A (p.Leu172Gln)
n.520T>A
c.527T>A (p.Leu176Gln)
c.461T>A (p.Leu154Gln)
c.626T>A (p.Leu209Gln)
c.680T>A (p.Leu227Gln)
2g.98389723T>CCA347831549CNGA3c.515T>C (p.Leu172Pro)
n.520T>C
c.527T>C (p.Leu176Pro)
c.461T>C (p.Leu154Pro)
c.626T>C (p.Leu209Pro)
c.680T>C (p.Leu227Pro)
 COSMIC
2g.98389723T>GCA347831548CNGA3c.515T>G (p.Leu172Arg)
n.520T>G
c.527T>G (p.Leu176Arg)
c.461T>G (p.Leu154Arg)
c.626T>G (p.Leu209Arg)
c.680T>G (p.Leu227Arg)
2g.98389724G>ACA427567080CNGA3c.516G>A (p.Leu172=)
n.521G>A
c.528G>A (p.Leu176=)
c.462G>A (p.Leu154=)
c.627G>A (p.Leu209=)
c.681G>A (p.Leu227=)
2g.98389724G>CCA427567081CNGA3c.516G>C (p.Leu172=)
n.521G>C
c.528G>C (p.Leu176=)
c.462G>C (p.Leu154=)
c.627G>C (p.Leu209=)
c.681G>C (p.Leu227=)
2g.98389724G>TCA427567082CNGA3c.516G>T (p.Leu172=)
n.521G>T
c.528G>T (p.Leu176=)
c.462G>T (p.Leu154=)
c.627G>T (p.Leu209=)
c.681G>T (p.Leu227=)
2g.98389725A=CA1273416686CNGA3c.517A= (p.Thr173=)
n.522A=
c.529A= (p.Thr177=)
c.463A= (p.Thr155=)
c.628A= (p.Thr210=)
c.682A= (p.Thr228=)
2g.98389725A>CCA347831550CNGA3c.517A>C (p.Thr173Pro)
n.522A>C
c.529A>C (p.Thr177Pro)
c.463A>C (p.Thr155Pro)
c.628A>C (p.Thr210Pro)
c.682A>C (p.Thr228Pro)
 dbSNP
2g.98389725A>GCA347831551CNGA3c.517A>G (p.Thr173Ala)
n.522A>G
c.529A>G (p.Thr177Ala)
c.463A>G (p.Thr155Ala)
c.628A>G (p.Thr210Ala)
c.682A>G (p.Thr228Ala)
2g.98389725A>TCA347831552CNGA3c.517A>T (p.Thr173Ser)
n.522A>T
c.529A>T (p.Thr177Ser)
c.463A>T (p.Thr155Ser)
c.628A>T (p.Thr210Ser)
c.682A>T (p.Thr228Ser)
2g.98389726C>ACA347831553CNGA3c.518C>A (p.Thr173Asn)
n.523C>A
c.530C>A (p.Thr177Asn)
c.464C>A (p.Thr155Asn)
c.629C>A (p.Thr210Asn)
c.683C>A (p.Thr228Asn)
2g.98389726C>GCA347831554CNGA3c.518C>G (p.Thr173Ser)
n.523C>G
c.530C>G (p.Thr177Ser)
c.464C>G (p.Thr155Ser)
c.629C>G (p.Thr210Ser)
c.683C>G (p.Thr228Ser)
2g.98389726C>TCA347831555CNGA3c.518C>T (p.Thr173Ile)
n.523C>T
c.530C>T (p.Thr177Ile)
c.464C>T (p.Thr155Ile)
c.629C>T (p.Thr210Ile)
c.683C>T (p.Thr228Ile)
2g.98389727C>ACA427567083CNGA3c.519C>A (p.Thr173=)
n.524C>A
c.531C>A (p.Thr177=)
c.465C>A (p.Thr155=)
c.630C>A (p.Thr210=)
c.684C>A (p.Thr228=)
2g.98389727C=CA1273416687CNGA3c.519C= (p.Thr173=)
n.524C=
c.531C= (p.Thr177=)
c.465C= (p.Thr155=)
c.630C= (p.Thr210=)
c.684C= (p.Thr228=)
2g.98389727C>GCA427567084CNGA3c.519C>G (p.Thr173=)
n.524C>G
c.531C>G (p.Thr177=)
c.465C>G (p.Thr155=)
c.630C>G (p.Thr210=)
c.684C>G (p.Thr228=)
 ClinVar gnomAD v4
2g.98389727C>TCA1793780CNGA3c.519C>T (p.Thr173=)
n.524C>T
c.531C>T (p.Thr177=)
c.465C>T (p.Thr155=)
c.630C>T (p.Thr210=)
c.684C>T (p.Thr228=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98389727_98389728delinsCGCA1273416688CNGA3c.519_520delinsCG (p.Thr173=)
n.524_525delinsCG
c.531_532delinsCG (p.Thr177=)
c.465_466delinsCG (p.Thr155=)
c.630_631delinsCG (p.Thr210=)
c.684_685delinsCG (p.Thr228=)
2g.98389728delCA1273416689CNGA3c.520del (p.Ala174ProfsTer27)
n.525del
c.532del (p.Ala178ProfsTer27)
c.466del (p.Ala156ProfsTer27)
c.631del (p.Ala211ProfsTer27)
c.685del (p.Ala229ProfsTer27)
 ClinVar dbSNP
2g.98389728G>ACA52624128CNGA3c.520G>A (p.Ala174Thr)
n.525G>A
c.532G>A (p.Ala178Thr)
c.466G>A (p.Ala156Thr)
c.631G>A (p.Ala211Thr)
c.685G>A (p.Ala229Thr)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.98389728G>CCA347831556CNGA3c.520G>C (p.Ala174Pro)
n.525G>C
c.532G>C (p.Ala178Pro)
c.466G>C (p.Ala156Pro)
c.631G>C (p.Ala211Pro)
c.685G>C (p.Ala229Pro)
2g.98389728G=CA1273416690CNGA3c.520G= (p.Ala174=)
n.525G=
c.532G= (p.Ala178=)
c.466G= (p.Ala156=)
c.631G= (p.Ala211=)
c.685G= (p.Ala229=)
2g.98389728G>TCA347831557CNGA3c.520G>T (p.Ala174Ser)
n.525G>T
c.532G>T (p.Ala178Ser)
c.466G>T (p.Ala156Ser)
c.631G>T (p.Ala211Ser)
c.685G>T (p.Ala229Ser)
2g.98389728_98389729insGTCA2660314956CNGA3c.520_521insGT (p.Ala174GlyfsTer28)
n.525_526insGT
c.532_533insGT (p.Ala178GlyfsTer28)
c.466_467insGT (p.Ala156GlyfsTer28)
c.631_632insGT (p.Ala211GlyfsTer28)
c.685_686insGT (p.Ala229GlyfsTer28)
 gnomAD v4
2g.98389729C>ACA347831558CNGA3c.521C>A (p.Ala174Asp)
n.526C>A
c.533C>A (p.Ala178Asp)
c.467C>A (p.Ala156Asp)
c.632C>A (p.Ala211Asp)
c.686C>A (p.Ala229Asp)
2g.98389729C>GCA347831559CNGA3c.521C>G (p.Ala174Gly)
n.526C>G
c.533C>G (p.Ala178Gly)
c.467C>G (p.Ala156Gly)
c.632C>G (p.Ala211Gly)
c.686C>G (p.Ala229Gly)
2g.98389729C>TCA347831560CNGA3c.521C>T (p.Ala174Val)
n.526C>T
c.533C>T (p.Ala178Val)
c.467C>T (p.Ala156Val)
c.632C>T (p.Ala211Val)
c.686C>T (p.Ala229Val)
2g.98389730C>ACA427567085CNGA3c.522C>A (p.Ala174=)
n.527C>A
c.534C>A (p.Ala178=)
c.468C>A (p.Ala156=)
c.633C>A (p.Ala211=)
c.687C>A (p.Ala229=)
2g.98389730C>GCA427567086CNGA3c.522C>G (p.Ala174=)
n.527C>G
c.534C>G (p.Ala178=)
c.468C>G (p.Ala156=)
c.633C>G (p.Ala211=)
c.687C>G (p.Ala229=)
2g.98389730C>TCA427567087CNGA3c.522C>T (p.Ala174=)
n.527C>T
c.534C>T (p.Ala178=)
c.468C>T (p.Ala156=)
c.633C>T (p.Ala211=)
c.687C>T (p.Ala229=)
2g.98389731delCA2660314957CNGA3c.523del (p.Ile175SerfsTer26)
n.528del
c.535del (p.Ile179SerfsTer26)
c.469del (p.Ile157SerfsTer26)
c.634del (p.Ile212SerfsTer26)
c.688del (p.Ile230SerfsTer26)
 gnomAD v4
2g.98389731A=CA1273416691CNGA3c.523A= (p.Ile175=)
n.528A=
c.535A= (p.Ile179=)
c.469A= (p.Ile157=)
c.634A= (p.Ile212=)
c.688A= (p.Ile230=)
2g.98389731A>CCA347831562CNGA3c.523A>C (p.Ile175Leu)
n.528A>C
c.535A>C (p.Ile179Leu)
c.469A>C (p.Ile157Leu)
c.634A>C (p.Ile212Leu)
c.688A>C (p.Ile230Leu)
2g.98389731A>GCA347831563CNGA3c.523A>G (p.Ile175Val)
n.528A>G
c.535A>G (p.Ile179Val)
c.469A>G (p.Ile157Val)
c.634A>G (p.Ile212Val)
c.688A>G (p.Ile230Val)
 dbSNP gnomAD v4
2g.98389731A>TCA347831561CNGA3c.523A>T (p.Ile175Phe)
n.528A>T
c.535A>T (p.Ile179Phe)
c.469A>T (p.Ile157Phe)
c.634A>T (p.Ile212Phe)
c.688A>T (p.Ile230Phe)
2g.98389732T>ACA347831565CNGA3c.524T>A (p.Ile175Asn)
n.529T>A
c.536T>A (p.Ile179Asn)
c.470T>A (p.Ile157Asn)
c.635T>A (p.Ile212Asn)
c.689T>A (p.Ile230Asn)
2g.98389732T>CCA347831564CNGA3c.524T>C (p.Ile175Thr)
n.529T>C
c.536T>C (p.Ile179Thr)
c.470T>C (p.Ile157Thr)
c.635T>C (p.Ile212Thr)
c.689T>C (p.Ile230Thr)
 ClinVar dbSNP
2g.98389732T>GCA347831566CNGA3c.524T>G (p.Ile175Ser)
n.529T>G
c.536T>G (p.Ile179Ser)
c.470T>G (p.Ile157Ser)
c.635T>G (p.Ile212Ser)
c.689T>G (p.Ile230Ser)
2g.98389733C>ACA427567088CNGA3c.525C>A (p.Ile175=)
n.530C>A
c.537C>A (p.Ile179=)
c.471C>A (p.Ile157=)
c.636C>A (p.Ile212=)
c.690C>A (p.Ile230=)
2g.98389733C=CA1273416692CNGA3c.525C= (p.Ile175=)
n.530C=
c.537C= (p.Ile179=)
c.471C= (p.Ile157=)
c.636C= (p.Ile212=)
c.690C= (p.Ile230=)
2g.98389733C>GCA347831567CNGA3c.525C>G (p.Ile175Met)
n.530C>G
c.537C>G (p.Ile179Met)
c.471C>G (p.Ile157Met)
c.636C>G (p.Ile212Met)
c.690C>G (p.Ile230Met)
2g.98389733C>TCA1793781CNGA3c.525C>T (p.Ile175=)
n.530C>T
c.537C>T (p.Ile179=)
c.471C>T (p.Ile157=)
c.636C>T (p.Ile212=)
c.690C>T (p.Ile230=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.98389733_98389734insCTCA2660314958CNGA3c.525_526insCT (p.Ala176LeufsTer26)
n.530_531insCT
c.537_538insCT (p.Ala180LeufsTer26)
c.471_472insCT (p.Ala158LeufsTer26)
c.636_637insCT (p.Ala213LeufsTer26)
c.690_691insCT (p.Ala231LeufsTer26)
 gnomAD v4
2g.98389734G>ACA347831568CNGA3c.526G>A (p.Ala176Thr)
n.531G>A
c.538G>A (p.Ala180Thr)
c.472G>A (p.Ala158Thr)
c.637G>A (p.Ala213Thr)
c.691G>A (p.Ala231Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98389734G>CCA347831569CNGA3c.526G>C (p.Ala176Pro)
n.531G>C
c.538G>C (p.Ala180Pro)
c.472G>C (p.Ala158Pro)
c.637G>C (p.Ala213Pro)
c.691G>C (p.Ala231Pro)
 gnomAD v4
2g.98389734G=CA1273416693CNGA3c.526G= (p.Ala176=)
n.531G=
c.538G= (p.Ala180=)
c.472G= (p.Ala158=)
c.637G= (p.Ala213=)
c.691G= (p.Ala231=)
2g.98389734G>TCA347831570CNGA3c.526G>T (p.Ala176Ser)
n.531G>T
c.538G>T (p.Ala180Ser)
c.472G>T (p.Ala158Ser)
c.637G>T (p.Ala213Ser)
c.691G>T (p.Ala231Ser)
2g.98389735C>ACA347831571CNGA3c.527C>A (p.Ala176Asp)
n.532C>A
c.539C>A (p.Ala180Asp)
c.473C>A (p.Ala158Asp)
c.638C>A (p.Ala213Asp)
c.692C>A (p.Ala231Asp)
 gnomAD v4
2g.98389735C=CA1273416694CNGA3c.527C= (p.Ala176=)
n.532C=
c.539C= (p.Ala180=)
c.473C= (p.Ala158=)
c.638C= (p.Ala213=)
c.692C= (p.Ala231=)
2g.98389735C>GCA347831572CNGA3c.527C>G (p.Ala176Gly)
n.532C>G
c.539C>G (p.Ala180Gly)
c.473C>G (p.Ala158Gly)
c.638C>G (p.Ala213Gly)
c.692C>G (p.Ala231Gly)
2g.98389735C>TCA1793782CNGA3c.527C>T (p.Ala176Val)
n.532C>T
c.539C>T (p.Ala180Val)
c.473C>T (p.Ala158Val)
c.638C>T (p.Ala213Val)
c.692C>T (p.Ala231Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98389736C>ACA427567089CNGA3c.528C>A (p.Ala176=)
n.533C>A
c.540C>A (p.Ala180=)
c.474C>A (p.Ala158=)
c.639C>A (p.Ala213=)
c.693C>A (p.Ala231=)
 gnomAD v4
2g.98389736C>GCA427567090CNGA3c.528C>G (p.Ala176=)
n.533C>G
c.540C>G (p.Ala180=)
c.474C>G (p.Ala158=)
c.639C>G (p.Ala213=)
c.693C>G (p.Ala231=)
2g.98389736C>TCA427567091CNGA3c.528C>T (p.Ala176=)
n.533C>T
c.540C>T (p.Ala180=)
c.474C>T (p.Ala158=)
c.639C>T (p.Ala213=)
c.693C>T (p.Ala231=)
 gnomAD v4
2g.98389737C>ACA347831574CNGA3c.529C>A (p.Leu177Met)
n.534C>A
c.541C>A (p.Leu181Met)
c.475C>A (p.Leu159Met)
c.640C>A (p.Leu214Met)
c.694C>A (p.Leu232Met)
2g.98389737C>GCA347831573CNGA3c.529C>G (p.Leu177Val)
n.534C>G
c.541C>G (p.Leu181Val)
c.475C>G (p.Leu159Val)
c.640C>G (p.Leu214Val)
c.694C>G (p.Leu232Val)
 gnomAD v4
2g.98389737C>TCA427567092CNGA3c.529C>T (p.Leu177=)
n.534C>T
c.541C>T (p.Leu181=)
c.475C>T (p.Leu159=)
c.640C>T (p.Leu214=)
c.694C>T (p.Leu232=)
 gnomAD v4
2g.98389738T>ACA1793783CNGA3c.530T>A (p.Leu177Gln)
n.535T>A
c.542T>A (p.Leu181Gln)
c.476T>A (p.Leu159Gln)
c.641T>A (p.Leu214Gln)
c.695T>A (p.Leu232Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98389738T>CCA347831575CNGA3c.530T>C (p.Leu177Pro)
n.535T>C
c.542T>C (p.Leu181Pro)
c.476T>C (p.Leu159Pro)
c.641T>C (p.Leu214Pro)
c.695T>C (p.Leu232Pro)
 dbSNP gnomAD v4
2g.98389738T>GCA347831576CNGA3c.530T>G (p.Leu177Arg)
n.535T>G
c.542T>G (p.Leu181Arg)
c.476T>G (p.Leu159Arg)
c.641T>G (p.Leu214Arg)
c.695T>G (p.Leu232Arg)
2g.98389738T=CA1273416695CNGA3c.530T= (p.Leu177=)
n.535T=
c.542T= (p.Leu181=)
c.476T= (p.Leu159=)
c.641T= (p.Leu214=)
c.695T= (p.Leu232=)
2g.98389739G>ACA427567093CNGA3c.531G>A (p.Leu177=)
n.536G>A
c.543G>A (p.Leu181=)
c.477G>A (p.Leu159=)
c.642G>A (p.Leu214=)
c.696G>A (p.Leu232=)
2g.98389739G>CCA427567094CNGA3c.531G>C (p.Leu177=)
n.536G>C
c.543G>C (p.Leu181=)
c.477G>C (p.Leu159=)
c.642G>C (p.Leu214=)
c.696G>C (p.Leu232=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98389739G=CA1273416696CNGA3c.531G= (p.Leu177=)
n.536G=
c.543G= (p.Leu181=)
c.477G= (p.Leu159=)
c.642G= (p.Leu214=)
c.696G= (p.Leu232=)
2g.98389739G>TCA427567095CNGA3c.531G>T (p.Leu177=)
n.536G>T
c.543G>T (p.Leu181=)
c.477G>T (p.Leu159=)
c.642G>T (p.Leu214=)
c.696G>T (p.Leu232=)
2g.98389740C>ACA347831577CNGA3c.532C>A (p.Pro178Thr)
n.537C>A
c.544C>A (p.Pro182Thr)
c.478C>A (p.Pro160Thr)
c.643C>A (p.Pro215Thr)
c.697C>A (p.Pro233Thr)
2g.98389740C=CA1273416697CNGA3c.532C= (p.Pro178=)
n.537C=
c.544C= (p.Pro182=)
c.478C= (p.Pro160=)
c.643C= (p.Pro215=)
c.697C= (p.Pro233=)
2g.98389740C>GCA347831578CNGA3c.532C>G (p.Pro178Ala)
n.537C>G
c.544C>G (p.Pro182Ala)
c.478C>G (p.Pro160Ala)
c.643C>G (p.Pro215Ala)
c.697C>G (p.Pro233Ala)
2g.98389740C>TCA1793784CNGA3c.532C>T (p.Pro178Ser)
n.537C>T
c.544C>T (p.Pro182Ser)
c.478C>T (p.Pro160Ser)
c.643C>T (p.Pro215Ser)
c.697C>T (p.Pro233Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98389741C>ACA347831579CNGA3c.533C>A (p.Pro178His)
n.538C>A
c.545C>A (p.Pro182His)
c.479C>A (p.Pro160His)
c.644C>A (p.Pro215His)
c.698C>A (p.Pro233His)
2g.98389741C>GCA347831581CNGA3c.533C>G (p.Pro178Arg)
n.538C>G
c.545C>G (p.Pro182Arg)
c.479C>G (p.Pro160Arg)
c.644C>G (p.Pro215Arg)
c.698C>G (p.Pro233Arg)
2g.98389741C>TCA347831580CNGA3c.533C>T (p.Pro178Leu)
n.538C>T
c.545C>T (p.Pro182Leu)
c.479C>T (p.Pro160Leu)
c.644C>T (p.Pro215Leu)
c.698C>T (p.Pro233Leu)
2g.98389742T>ACA427567096CNGA3c.534T>A (p.Pro178=)
n.539T>A
c.546T>A (p.Pro182=)
c.480T>A (p.Pro160=)
c.645T>A (p.Pro215=)
c.699T>A (p.Pro233=)
2g.98389742T>CCA427567097CNGA3c.534T>C (p.Pro178=)
n.539T>C
c.546T>C (p.Pro182=)
c.480T>C (p.Pro160=)
c.645T>C (p.Pro215=)
c.699T>C (p.Pro233=)
2g.98389742T>GCA427567098CNGA3c.534T>G (p.Pro178=)
n.539T>G
c.546T>G (p.Pro182=)
c.480T>G (p.Pro160=)
c.645T>G (p.Pro215=)
c.699T>G (p.Pro233=)
2g.98389743G>ACA347831582CNGA3c.535G>A (p.Val179Ile)
n.540G>A
c.547G>A (p.Val183Ile)
c.481G>A (p.Val161Ile)
c.646G>A (p.Val216Ile)
c.700G>A (p.Val234Ile)
2g.98389743G>CCA347831583CNGA3c.535G>C (p.Val179Leu)
n.540G>C
c.547G>C (p.Val183Leu)
c.481G>C (p.Val161Leu)
c.646G>C (p.Val216Leu)
c.700G>C (p.Val234Leu)
2g.98389743G>TCA347831584CNGA3c.535G>T (p.Val179Phe)
n.540G>T
c.547G>T (p.Val183Phe)
c.481G>T (p.Val161Phe)
c.646G>T (p.Val216Phe)
c.700G>T (p.Val234Phe)
 ClinVar dbSNP
2g.98389744T>ACA347831585CNGA3c.536T>A (p.Val179Asp)
n.541T>A
c.548T>A (p.Val183Asp)
c.482T>A (p.Val161Asp)
c.647T>A (p.Val216Asp)
c.701T>A (p.Val234Asp)
 gnomAD v4
2g.98389744T>CCA347831586CNGA3c.536T>C (p.Val179Ala)
n.541T>C
c.548T>C (p.Val183Ala)
c.482T>C (p.Val161Ala)
c.647T>C (p.Val216Ala)
c.701T>C (p.Val234Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.98389744T>GCA347831587CNGA3c.536T>G (p.Val179Gly)
n.541T>G
c.548T>G (p.Val183Gly)
c.482T>G (p.Val161Gly)
c.647T>G (p.Val216Gly)
c.701T>G (p.Val234Gly)
2g.98389744T=CA1273416698CNGA3c.536T= (p.Val179=)
n.541T=
c.548T= (p.Val183=)
c.482T= (p.Val161=)
c.647T= (p.Val216=)
c.701T= (p.Val234=)
2g.98389745C>ACA427567099CNGA3c.537C>A (p.Val179=)
n.542C>A
c.549C>A (p.Val183=)
c.483C>A (p.Val161=)
c.648C>A (p.Val216=)
c.702C>A (p.Val234=)
2g.98389745C>GCA427567100CNGA3c.537C>G (p.Val179=)
n.542C>G
c.549C>G (p.Val183=)
c.483C>G (p.Val161=)
c.648C>G (p.Val216=)
c.702C>G (p.Val234=)
2g.98389745C>TCA427567101CNGA3c.537C>T (p.Val179=)
n.542C>T
c.549C>T (p.Val183=)
c.483C>T (p.Val161=)
c.648C>T (p.Val216=)
c.702C>T (p.Val234=)
2g.98389746T>ACA347831588CNGA3c.538T>A (p.Phe180Ile)
n.543T>A
c.550T>A (p.Phe184Ile)
c.484T>A (p.Phe162Ile)
c.649T>A (p.Phe217Ile)
c.703T>A (p.Phe235Ile)
2g.98389746T>CCA347831589CNGA3c.538T>C (p.Phe180Leu)
n.543T>C
c.550T>C (p.Phe184Leu)
c.484T>C (p.Phe162Leu)
c.649T>C (p.Phe217Leu)
c.703T>C (p.Phe235Leu)
2g.98389746T>GCA347831590CNGA3c.538T>G (p.Phe180Val)
n.543T>G
c.550T>G (p.Phe184Val)
c.484T>G (p.Phe162Val)
c.649T>G (p.Phe217Val)
c.703T>G (p.Phe235Val)
2g.98389747T>ACA347831591CNGA3c.539T>A (p.Phe180Tyr)
n.544T>A
c.551T>A (p.Phe184Tyr)
c.485T>A (p.Phe162Tyr)
c.650T>A (p.Phe217Tyr)
c.704T>A (p.Phe235Tyr)
2g.98389747T>CCA347831592CNGA3c.539T>C (p.Phe180Ser)
n.544T>C
c.551T>C (p.Phe184Ser)
c.485T>C (p.Phe162Ser)
c.650T>C (p.Phe217Ser)
c.704T>C (p.Phe235Ser)
2g.98389747T>GCA347831593CNGA3c.539T>G (p.Phe180Cys)
n.544T>G
c.551T>G (p.Phe184Cys)
c.485T>G (p.Phe162Cys)
c.650T>G (p.Phe217Cys)
c.704T>G (p.Phe235Cys)
2g.98389748C>ACA347831594CNGA3c.540C>A (p.Phe180Leu)
n.545C>A
c.552C>A (p.Phe184Leu)
c.486C>A (p.Phe162Leu)
c.651C>A (p.Phe217Leu)
c.705C>A (p.Phe235Leu)
2g.98389748C=CA1273416699CNGA3c.540C= (p.Phe180=)
n.545C=
c.552C= (p.Phe184=)
c.486C= (p.Phe162=)
c.651C= (p.Phe217=)
c.705C= (p.Phe235=)
2g.98389748C>GCA347831595CNGA3c.540C>G (p.Phe180Leu)
n.545C>G
c.552C>G (p.Phe184Leu)
c.486C>G (p.Phe162Leu)
c.651C>G (p.Phe217Leu)
c.705C>G (p.Phe235Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98389748C>TCA427567102CNGA3c.540C>T (p.Phe180=)
n.545C>T
c.552C>T (p.Phe184=)
c.486C>T (p.Phe162=)
c.651C>T (p.Phe217=)
c.705C>T (p.Phe235=)
 gnomAD v4
2g.98389749T>ACA347831596CNGA3c.541T>A (p.Tyr181Asn)
n.546T>A
c.553T>A (p.Tyr185Asn)
c.487T>A (p.Tyr163Asn)
c.652T>A (p.Tyr218Asn)
c.706T>A (p.Tyr236Asn)
2g.98389749T>CCA347831598CNGA3c.541T>C (p.Tyr181His)
n.546T>C
c.553T>C (p.Tyr185His)
c.487T>C (p.Tyr163His)
c.652T>C (p.Tyr218His)
c.706T>C (p.Tyr236His)
 ClinVar
2g.98389749T>GCA347831597CNGA3c.541T>G (p.Tyr181Asp)
n.546T>G
c.553T>G (p.Tyr185Asp)
c.487T>G (p.Tyr163Asp)
c.652T>G (p.Tyr218Asp)
c.706T>G (p.Tyr236Asp)
2g.98389750A=CA1273416700CNGA3c.542A= (p.Tyr181=)
n.547A=
c.554A= (p.Tyr185=)
c.488A= (p.Tyr163=)
c.653A= (p.Tyr218=)
c.707A= (p.Tyr236=)
2g.98389750A>CCA347831599CNGA3c.542A>C (p.Tyr181Ser)
n.547A>C
c.554A>C (p.Tyr185Ser)
c.488A>C (p.Tyr163Ser)
c.653A>C (p.Tyr218Ser)
c.707A>C (p.Tyr236Ser)
2g.98389750A>GCA347831600CNGA3c.542A>G (p.Tyr181Cys)
n.547A>G
c.554A>G (p.Tyr185Cys)
c.488A>G (p.Tyr163Cys)
c.653A>G (p.Tyr218Cys)
c.707A>G (p.Tyr236Cys)
 ClinVar dbSNP gnomAD v4
2g.98389750A>TCA347831601CNGA3c.542A>T (p.Tyr181Phe)
n.547A>T
c.554A>T (p.Tyr185Phe)
c.488A>T (p.Tyr163Phe)
c.653A>T (p.Tyr218Phe)
c.707A>T (p.Tyr236Phe)
2g.98389750_98389754delCA2660314959CNGA3c.542_546del (p.Tyr181LeufsTer12)
n.547_551del
c.554_558del (p.Tyr185LeufsTer12)
c.488_492del (p.Tyr163LeufsTer12)
c.653_657del (p.Tyr218LeufsTer12)
c.707_711del (p.Tyr236LeufsTer12)
 gnomAD v4
2g.98389751T>ACA347831602CNGA3c.543T>A (p.Tyr181Ter)
n.548T>A
c.555T>A (p.Tyr185Ter)
c.489T>A (p.Tyr163Ter)
c.654T>A (p.Tyr218Ter)
c.708T>A (p.Tyr236Ter)
2g.98389751T>CCA1793785CNGA3c.543T>C (p.Tyr181=)
n.548T>C
c.555T>C (p.Tyr185=)
c.489T>C (p.Tyr163=)
c.654T>C (p.Tyr218=)
c.708T>C (p.Tyr236=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98389751T>GCA347831603CNGA3c.543T>G (p.Tyr181Ter)
n.548T>G
c.555T>G (p.Tyr185Ter)
c.489T>G (p.Tyr163Ter)
c.654T>G (p.Tyr218Ter)
c.708T>G (p.Tyr236Ter)
2g.98389751T=CA1273416701CNGA3c.543T= (p.Tyr181=)
n.548T=
c.555T= (p.Tyr185=)
c.489T= (p.Tyr163=)
c.654T= (p.Tyr218=)
c.708T= (p.Tyr236=)
2g.98389752A>CCA347831604CNGA3c.544A>C (p.Asn182His)
n.549A>C
c.556A>C (p.Asn186His)
c.490A>C (p.Asn164His)
c.655A>C (p.Asn219His)
c.709A>C (p.Asn237His)
2g.98389752A>GCA347831605CNGA3c.544A>G (p.Asn182Asp)
n.549A>G
c.556A>G (p.Asn186Asp)
c.490A>G (p.Asn164Asp)
c.655A>G (p.Asn219Asp)
c.709A>G (p.Asn237Asp)
 ClinVar dbSNP
2g.98389752A>TCA347831606CNGA3c.544A>T (p.Asn182Tyr)
n.549A>T
c.556A>T (p.Asn186Tyr)
c.490A>T (p.Asn164Tyr)
c.655A>T (p.Asn219Tyr)
c.709A>T (p.Asn237Tyr)
2g.98389753delCA2660314960CNGA3c.545del (p.Asn182ThrfsTer19)
n.550del
c.557del (p.Asn186ThrfsTer19)
c.491del (p.Asn164ThrfsTer19)
c.656del (p.Asn219ThrfsTer19)
c.710del (p.Asn237ThrfsTer19)
 gnomAD v4
2g.98389753A>CCA347831607CNGA3c.545A>C (p.Asn182Thr)
n.550A>C
c.557A>C (p.Asn186Thr)
c.491A>C (p.Asn164Thr)
c.656A>C (p.Asn219Thr)
c.710A>C (p.Asn237Thr)
2g.98389753A>GCA347831608CNGA3c.545A>G (p.Asn182Ser)
n.550A>G
c.557A>G (p.Asn186Ser)
c.491A>G (p.Asn164Ser)
c.656A>G (p.Asn219Ser)
c.710A>G (p.Asn237Ser)
 ClinVar dbSNP
2g.98389753A>TCA347831609CNGA3c.545A>T (p.Asn182Ile)
n.550A>T
c.557A>T (p.Asn186Ile)
c.491A>T (p.Asn164Ile)
c.656A>T (p.Asn219Ile)
c.710A>T (p.Asn237Ile)
2g.98389754C>ACA347831610CNGA3c.546C>A (p.Asn182Lys)
n.551C>A
c.558C>A (p.Asn186Lys)
c.492C>A (p.Asn164Lys)
c.657C>A (p.Asn219Lys)
c.711C>A (p.Asn237Lys)
2g.98389754C>GCA347831611CNGA3c.546C>G (p.Asn182Lys)
n.551C>G
c.558C>G (p.Asn186Lys)
c.492C>G (p.Asn164Lys)
c.657C>G (p.Asn219Lys)
c.711C>G (p.Asn237Lys)
2g.98389754C>TCA427567103CNGA3c.546C>T (p.Asn182=)
n.551C>T
c.558C>T (p.Asn186=)
c.492C>T (p.Asn164=)
c.657C>T (p.Asn219=)
c.711C>T (p.Asn237=)
2g.98389755T>ACA347831612CNGA3c.547T>A (p.Trp183Arg)
n.552T>A
c.559T>A (p.Trp187Arg)
c.493T>A (p.Trp165Arg)
c.658T>A (p.Trp220Arg)
c.712T>A (p.Trp238Arg)
2g.98389755T>CCA347831613CNGA3c.547T>C (p.Trp183Arg)
n.552T>C
c.559T>C (p.Trp187Arg)
c.493T>C (p.Trp165Arg)
c.658T>C (p.Trp220Arg)
c.712T>C (p.Trp238Arg)
 gnomAD v4
2g.98389755T>GCA347831614CNGA3c.547T>G (p.Trp183Gly)
n.552T>G
c.559T>G (p.Trp187Gly)
c.493T>G (p.Trp165Gly)
c.658T>G (p.Trp220Gly)
c.712T>G (p.Trp238Gly)
2g.98389756G>ACA16621756CNGA3c.548G>A (p.Trp183Ter)
n.553G>A
c.560G>A (p.Trp187Ter)
c.494G>A (p.Trp165Ter)
c.659G>A (p.Trp220Ter)
c.713G>A (p.Trp238Ter)
 ClinVar dbSNP
2g.98389756G>CCA347831615CNGA3c.548G>C (p.Trp183Ser)
n.553G>C
c.560G>C (p.Trp187Ser)
c.494G>C (p.Trp165Ser)
c.659G>C (p.Trp220Ser)
c.713G>C (p.Trp238Ser)
2g.98389756G=CA1273416702CNGA3c.548G= (p.Trp183=)
n.553G=
c.560G= (p.Trp187=)
c.494G= (p.Trp165=)
c.659G= (p.Trp220=)
c.713G= (p.Trp238=)
2g.98389756G>TCA347831616CNGA3c.548G>T (p.Trp183Leu)
n.553G>T
c.560G>T (p.Trp187Leu)
c.494G>T (p.Trp165Leu)
c.659G>T (p.Trp220Leu)
c.713G>T (p.Trp238Leu)
2g.98389757G>ACA347831617CNGA3c.549G>A (p.Trp183Ter)
n.554G>A
c.561G>A (p.Trp187Ter)
c.495G>A (p.Trp165Ter)
c.660G>A (p.Trp220Ter)
c.714G>A (p.Trp238Ter)
 ClinVar dbSNP gnomAD v4
2g.98389757G>CCA347831618CNGA3c.549G>C (p.Trp183Cys)
n.554G>C
c.561G>C (p.Trp187Cys)
c.495G>C (p.Trp165Cys)
c.660G>C (p.Trp220Cys)
c.714G>C (p.Trp238Cys)
2g.98389757G=CA1273416703CNGA3c.549G= (p.Trp183=)
n.554G=
c.561G= (p.Trp187=)
c.495G= (p.Trp165=)
c.660G= (p.Trp220=)
c.714G= (p.Trp238=)
2g.98389757G>TCA347831619CNGA3c.549G>T (p.Trp183Cys)
n.554G>T
c.561G>T (p.Trp187Cys)
c.495G>T (p.Trp165Cys)
c.660G>T (p.Trp220Cys)
c.714G>T (p.Trp238Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.98389758T>ACA347831620CNGA3c.550T>A (p.Tyr184Asn)
n.555T>A
c.562T>A (p.Tyr188Asn)
c.496T>A (p.Tyr166Asn)
c.661T>A (p.Tyr221Asn)
c.715T>A (p.Tyr239Asn)
2g.98389758T>CCA347831621CNGA3c.550T>C (p.Tyr184His)
n.555T>C
c.562T>C (p.Tyr188His)
c.496T>C (p.Tyr166His)
c.661T>C (p.Tyr221His)
c.715T>C (p.Tyr239His)
2g.98389758T>GCA347831622CNGA3c.550T>G (p.Tyr184Asp)
n.555T>G
c.562T>G (p.Tyr188Asp)
c.496T>G (p.Tyr166Asp)
c.661T>G (p.Tyr221Asp)
c.715T>G (p.Tyr239Asp)
2g.98389759A>CCA347831623CNGA3c.551A>C (p.Tyr184Ser)
n.556A>C
c.563A>C (p.Tyr188Ser)
c.497A>C (p.Tyr166Ser)
c.662A>C (p.Tyr221Ser)
c.716A>C (p.Tyr239Ser)
2g.98389759A>GCA347831625CNGA3c.551A>G (p.Tyr184Cys)
n.556A>G
c.563A>G (p.Tyr188Cys)
c.497A>G (p.Tyr166Cys)
c.662A>G (p.Tyr221Cys)
c.716A>G (p.Tyr239Cys)
 dbSNP gnomAD v4
2g.98389759A>TCA347831624CNGA3c.551A>T (p.Tyr184Phe)
n.556A>T
c.563A>T (p.Tyr188Phe)
c.497A>T (p.Tyr166Phe)
c.662A>T (p.Tyr221Phe)
c.716A>T (p.Tyr239Phe)
2g.98389760T>ACA347831626CNGA3c.552T>A (p.Tyr184Ter)
n.557T>A
c.564T>A (p.Tyr188Ter)
c.498T>A (p.Tyr166Ter)
c.663T>A (p.Tyr221Ter)
c.717T>A (p.Tyr239Ter)
2g.98389760T>CCA427567104CNGA3c.552T>C (p.Tyr184=)
n.557T>C
c.564T>C (p.Tyr188=)
c.498T>C (p.Tyr166=)
c.663T>C (p.Tyr221=)
c.717T>C (p.Tyr239=)
2g.98389760T>GCA347831627CNGA3c.552T>G (p.Tyr184Ter)
n.557T>G
c.564T>G (p.Tyr188Ter)
c.498T>G (p.Tyr166Ter)
c.663T>G (p.Tyr221Ter)
c.717T>G (p.Tyr239Ter)

Number of alleles fetched