Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.120640300_120643612delCA2582342875HGDc.774+711_879+1293del
c.202+990_307+1293del
c.181-1915_285+1293del
c.194+711_299+1293del
c.550-1915_654+1293del
c.351+711_456+1293del
 ClinVar
3g.120641592A=CA1397094505HGDc.876T= (p.His292=)
n.216T=
c.304T=
c.282T= (p.His94=)
c.296T=
c.651T= (p.His217=)
c.453T= (p.His151=)
3g.120641592A>CCA354073854HGDc.876T>G (p.His292Gln)
n.216T>G
c.304T>G
c.282T>G (p.His94Gln)
c.296T>G
c.651T>G (p.His217Gln)
c.453T>G (p.His151Gln)
 dbSNP
3g.120641592A>GCA435227562HGDc.876T>C (p.His292=)
n.216T>C
c.304T>C
c.282T>C (p.His94=)
c.296T>C
c.651T>C (p.His217=)
c.453T>C (p.His151=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120641592A>TCA354073855HGDc.876T>A (p.His292Gln)
n.216T>A
c.304T>A
c.282T>A (p.His94Gln)
c.296T>A
c.651T>A (p.His217Gln)
c.453T>A (p.His151Gln)
3g.120641593T>ACA354073856HGDc.875A>T (p.His292Leu)
n.215A>T
c.303A>T
c.281A>T (p.His94Leu)
c.295A>T
c.650A>T (p.His217Leu)
c.452A>T (p.His151Leu)
3g.120641593T>CCA354073857HGDc.875A>G (p.His292Arg)
n.215A>G
c.303A>G
c.281A>G (p.His94Arg)
c.295A>G
c.650A>G (p.His217Arg)
c.452A>G (p.His151Arg)
 ClinVar gnomAD v4
3g.120641593T>GCA354073858HGDc.875A>C (p.His292Pro)
n.215A>C
c.303A>C
c.281A>C (p.His94Pro)
c.295A>C
c.650A>C (p.His217Pro)
c.452A>C (p.His151Pro)
3g.120641594G>ACA354073859HGDc.874C>T (p.His292Tyr)
n.214C>T
c.302C>T
c.280C>T (p.His94Tyr)
c.294C>T
c.649C>T (p.His217Tyr)
c.451C>T (p.His151Tyr)
3g.120641594G>CCA354073860HGDc.874C>G (p.His292Asp)
n.214C>G
c.302C>G
c.280C>G (p.His94Asp)
c.294C>G
c.649C>G (p.His217Asp)
c.451C>G (p.His151Asp)
3g.120641594G>TCA354073861HGDc.874C>A (p.His292Asn)
n.214C>A
c.302C>A
c.280C>A (p.His94Asn)
c.294C>A
c.649C>A (p.His217Asn)
c.451C>A (p.His151Asn)
3g.120641595delCA2667171257HGDc.874del (p.His292MetfsTer10)
n.214del
c.302del
c.280del (p.His94MetfsTer7)
c.294del
c.649del (p.His217MetfsTer10)
c.874del (p.His292MetfsTer24)
c.451del (p.His151MetfsTer10)
 gnomAD v4
3g.120641595G>ACA435227567HGDc.873C>T (p.Asp291=)
n.213C>T
c.301C>T
c.279C>T (p.Asp93=)
c.293C>T
c.648C>T (p.Asp216=)
c.450C>T (p.Asp150=)
 dbSNP gnomAD v2 gnomAD v4
3g.120641595G>CCA354073862HGDc.873C>G (p.Asp291Glu)
n.213C>G
c.301C>G
c.279C>G (p.Asp93Glu)
c.293C>G
c.648C>G (p.Asp216Glu)
c.450C>G (p.Asp150Glu)
3g.120641595G=CA1397094506HGDc.873C= (p.Asp291=)
n.213C=
c.301C=
c.279C= (p.Asp93=)
c.293C=
c.648C= (p.Asp216=)
c.450C= (p.Asp150=)
3g.120641595G>TCA2560044HGDc.873C>A (p.Asp291Glu)
n.213C>A
c.301C>A
c.279C>A (p.Asp93Glu)
c.293C>A
c.648C>A (p.Asp216Glu)
c.450C>A (p.Asp150Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.120641596T>ACA354073864HGDc.872A>T (p.Asp291Val)
n.212A>T
c.300A>T
c.278A>T (p.Asp93Val)
c.292A>T
c.647A>T (p.Asp216Val)
c.449A>T (p.Asp150Val)
3g.120641596T>CCA354073865HGDc.872A>G (p.Asp291Gly)
n.212A>G
c.300A>G
c.278A>G (p.Asp93Gly)
c.292A>G
c.647A>G (p.Asp216Gly)
c.449A>G (p.Asp150Gly)
3g.120641596T>GCA354073863HGDc.872A>C (p.Asp291Ala)
n.212A>C
c.300A>C
c.278A>C (p.Asp93Ala)
c.292A>C
c.647A>C (p.Asp216Ala)
c.449A>C (p.Asp150Ala)
3g.120641597C>ACA354073866HGDc.871G>T (p.Asp291Tyr)
n.211G>T
c.299G>T
c.277G>T (p.Asp93Tyr)
c.291G>T
c.646G>T (p.Asp216Tyr)
c.448G>T (p.Asp150Tyr)
3g.120641597C>GCA354073867HGDc.871G>C (p.Asp291His)
n.211G>C
c.299G>C
c.277G>C (p.Asp93His)
c.291G>C
c.646G>C (p.Asp216His)
c.448G>C (p.Asp150His)
3g.120641597C>TCA354073868HGDc.871G>A (p.Asp291Asn)
n.211G>A
c.299G>A
c.277G>A (p.Asp93Asn)
c.291G>A
c.646G>A (p.Asp216Asn)
c.448G>A (p.Asp150Asn)
3g.120641598A>CCA354073869HGDc.870T>G (p.Phe290Leu)
n.210T>G
c.298T>G
c.276T>G (p.Phe92Leu)
c.290T>G
c.645T>G (p.Phe215Leu)
c.447T>G (p.Phe149Leu)
3g.120641598A>GCA435227569HGDc.870T>C (p.Phe290=)
n.210T>C
c.298T>C
c.276T>C (p.Phe92=)
c.290T>C
c.645T>C (p.Phe215=)
c.447T>C (p.Phe149=)
3g.120641598A>TCA354073870HGDc.870T>A (p.Phe290Leu)
n.210T>A
c.298T>A
c.276T>A (p.Phe92Leu)
c.290T>A
c.645T>A (p.Phe215Leu)
c.447T>A (p.Phe149Leu)
3g.120641599A>CCA354073873HGDc.869T>G (p.Phe290Cys)
n.209T>G
c.297T>G
c.275T>G (p.Phe92Cys)
c.289T>G
c.644T>G (p.Phe215Cys)
c.446T>G (p.Phe149Cys)
3g.120641599A>GCA354073871HGDc.869T>C (p.Phe290Ser)
n.209T>C
c.297T>C
c.275T>C (p.Phe92Ser)
c.289T>C
c.644T>C (p.Phe215Ser)
c.446T>C (p.Phe149Ser)
3g.120641599A>TCA354073872HGDc.869T>A (p.Phe290Tyr)
n.209T>A
c.297T>A
c.275T>A (p.Phe92Tyr)
c.289T>A
c.644T>A (p.Phe215Tyr)
c.446T>A (p.Phe149Tyr)
3g.120641600A>CCA354073874HGDc.868T>G (p.Phe290Val)
n.208T>G
c.296T>G
c.274T>G (p.Phe92Val)
c.288T>G
c.643T>G (p.Phe215Val)
c.445T>G (p.Phe149Val)
3g.120641600A>GCA354073875HGDc.868T>C (p.Phe290Leu)
n.208T>C
c.296T>C
c.274T>C (p.Phe92Leu)
c.288T>C
c.643T>C (p.Phe215Leu)
c.445T>C (p.Phe149Leu)
3g.120641600A>TCA354073876HGDc.868T>A (p.Phe290Ile)
n.208T>A
c.296T>A
c.274T>A (p.Phe92Ile)
c.288T>A
c.643T>A (p.Phe215Ile)
c.445T>A (p.Phe149Ile)
3g.120641601G>ACA435227570HGDc.867C>T (p.Ala289=)
n.207C>T
c.295C>T
c.273C>T (p.Ala91=)
c.287C>T
c.642C>T (p.Ala214=)
c.444C>T (p.Ala148=)
3g.120641601G>CCA435227571HGDc.867C>G (p.Ala289=)
n.207C>G
c.295C>G
c.273C>G (p.Ala91=)
c.287C>G
c.642C>G (p.Ala214=)
c.444C>G (p.Ala148=)
3g.120641601G>TCA435227572HGDc.867C>A (p.Ala289=)
n.207C>A
c.295C>A
c.273C>A (p.Ala91=)
c.287C>A
c.642C>A (p.Ala214=)
c.444C>A (p.Ala148=)
3g.120641602G>ACA354073877HGDc.866C>T (p.Ala289Val)
n.206C>T
c.294C>T
c.272C>T (p.Ala91Val)
c.286C>T
c.641C>T (p.Ala214Val)
c.443C>T (p.Ala148Val)
 COSMIC
3g.120641602G>CCA354073878HGDc.866C>G (p.Ala289Gly)
n.206C>G
c.294C>G
c.272C>G (p.Ala91Gly)
c.286C>G
c.641C>G (p.Ala214Gly)
c.443C>G (p.Ala148Gly)
3g.120641602G>TCA354073879HGDc.866C>A (p.Ala289Asp)
n.206C>A
c.294C>A
c.272C>A (p.Ala91Asp)
c.286C>A
c.641C>A (p.Ala214Asp)
c.443C>A (p.Ala148Asp)
3g.120641603C>ACA354073882HGDc.865G>T (p.Ala289Ser)
n.205G>T
c.293G>T
c.271G>T (p.Ala91Ser)
c.285G>T
c.640G>T (p.Ala214Ser)
c.442G>T (p.Ala148Ser)
3g.120641603C>GCA354073881HGDc.865G>C (p.Ala289Pro)
n.205G>C
c.293G>C
c.271G>C (p.Ala91Pro)
c.285G>C
c.640G>C (p.Ala214Pro)
c.442G>C (p.Ala148Pro)
3g.120641603C>TCA354073880HGDc.865G>A (p.Ala289Thr)
n.205G>A
c.293G>A
c.271G>A (p.Ala91Thr)
c.285G>A
c.640G>A (p.Ala214Thr)
c.442G>A (p.Ala148Thr)
3g.120641604C>ACA435227573HGDc.864G>T (p.Val288=)
n.204G>T
c.292G>T
c.270G>T (p.Val90=)
c.284G>T
c.639G>T (p.Val213=)
c.441G>T (p.Val147=)
3g.120641604C>GCA435227574HGDc.864G>C (p.Val288=)
n.204G>C
c.292G>C
c.270G>C (p.Val90=)
c.284G>C
c.639G>C (p.Val213=)
c.441G>C (p.Val147=)
3g.120641604C>TCA435227575HGDc.864G>A (p.Val288=)
n.204G>A
c.292G>A
c.270G>A (p.Val90=)
c.284G>A
c.639G>A (p.Val213=)
c.441G>A (p.Val147=)
3g.120641605A=CA1397094507HGDc.863T= (p.Val288=)
n.203T=
c.291T=
c.269T= (p.Val90=)
c.283T=
c.638T= (p.Val213=)
c.440T= (p.Val147=)
3g.120641605A>CCA354073883HGDc.863T>G (p.Val288Gly)
n.203T>G
c.291T>G
c.269T>G (p.Val90Gly)
c.283T>G
c.638T>G (p.Val213Gly)
c.440T>G (p.Val147Gly)
3g.120641605A>GCA354073884HGDc.863T>C (p.Val288Ala)
n.203T>C
c.291T>C
c.269T>C (p.Val90Ala)
c.283T>C
c.638T>C (p.Val213Ala)
c.440T>C (p.Val147Ala)
3g.120641605A>TCA354073885HGDc.863T>A (p.Val288Glu)
n.203T>A
c.291T>A
c.269T>A (p.Val90Glu)
c.283T>A
c.638T>A (p.Val213Glu)
c.440T>A (p.Val147Glu)
 ClinVar dbSNP
3g.120641606C>ACA354073886HGDc.862G>T (p.Val288Leu)
n.202G>T
c.290G>T
c.268G>T (p.Val90Leu)
c.282G>T
c.637G>T (p.Val213Leu)
c.439G>T (p.Val147Leu)
3g.120641606C=CA1397094508HGDc.862G= (p.Val288=)
n.202G=
c.290G=
c.268G= (p.Val90=)
c.282G=
c.637G= (p.Val213=)
c.439G= (p.Val147=)
3g.120641606C>GCA354073887HGDc.862G>C (p.Val288Leu)
n.202G>C
c.290G>C
c.268G>C (p.Val90Leu)
c.282G>C
c.637G>C (p.Val213Leu)
c.439G>C (p.Val147Leu)
3g.120641606C>TCA354073888HGDc.862G>A (p.Val288Met)
n.202G>A
c.290G>A
c.268G>A (p.Val90Met)
c.282G>A
c.637G>A (p.Val213Met)
c.439G>A (p.Val147Met)
 dbSNP gnomAD v4
3g.120641607T>ACA435227578HGDc.861A>T (p.Ser287=)
n.201A>T
c.289A>T
c.267A>T (p.Ser89=)
c.281A>T
c.636A>T (p.Ser212=)
c.438A>T (p.Ser146=)
 gnomAD v4
3g.120641607T>CCA435227577HGDc.861A>G (p.Ser287=)
n.201A>G
c.289A>G
c.267A>G (p.Ser89=)
c.281A>G
c.636A>G (p.Ser212=)
c.438A>G (p.Ser146=)
 dbSNP gnomAD v3 gnomAD v4
3g.120641607T>GCA435227576HGDc.861A>C (p.Ser287=)
n.201A>C
c.289A>C
c.267A>C (p.Ser89=)
c.281A>C
c.636A>C (p.Ser212=)
c.438A>C (p.Ser146=)
3g.120641607T=CA1397094509HGDc.861A= (p.Ser287=)
n.201A=
c.289A=
c.267A= (p.Ser89=)
c.281A=
c.636A= (p.Ser212=)
c.438A= (p.Ser146=)
3g.120641608G>ACA354073891HGDc.860C>T (p.Ser287Leu)
n.200C>T
c.288C>T
c.266C>T (p.Ser89Leu)
c.280C>T
c.635C>T (p.Ser212Leu)
c.437C>T (p.Ser146Leu)
3g.120641608G>CCA354073889HGDc.860C>G (p.Ser287Ter)
n.200C>G
c.288C>G
c.266C>G (p.Ser89Ter)
c.280C>G
c.635C>G (p.Ser212Ter)
c.437C>G (p.Ser146Ter)
3g.120641608G>TCA354073890HGDc.860C>A (p.Ser287Ter)
n.200C>A
c.288C>A
c.266C>A (p.Ser89Ter)
c.280C>A
c.635C>A (p.Ser212Ter)
c.437C>A (p.Ser146Ter)
 ClinVar
3g.120641609A>CCA354073892HGDc.859T>G (p.Ser287Ala)
n.199T>G
c.287T>G
c.265T>G (p.Ser89Ala)
c.279T>G
c.634T>G (p.Ser212Ala)
c.436T>G (p.Ser146Ala)
3g.120641609A>GCA354073893HGDc.859T>C (p.Ser287Pro)
n.199T>C
c.287T>C
c.265T>C (p.Ser89Pro)
c.279T>C
c.634T>C (p.Ser212Pro)
c.436T>C (p.Ser146Pro)
3g.120641609A>TCA354073894HGDc.859T>A (p.Ser287Thr)
n.199T>A
c.287T>A
c.265T>A (p.Ser89Thr)
c.279T>A
c.634T>A (p.Ser212Thr)
c.436T>A (p.Ser146Thr)
3g.120641609_120641612dupCA2667171258HGDc.856_859dup (p.Ser287Ter)
n.196_199dup
c.284_287dup
c.262_265dup (p.Ser89Ter)
c.276_279dup
c.631_634dup (p.Ser212Ter)
c.433_436dup (p.Ser146Ter)
 gnomAD v4
3g.120641610G>ACA435227579HGDc.858C>T (p.Asn286=)
n.198C>T
c.286C>T
c.264C>T (p.Asn88=)
c.278C>T
c.633C>T (p.Asn211=)
c.435C>T (p.Asn145=)
3g.120641610G>CCA2560045HGDc.858C>G (p.Asn286Lys)
n.198C>G
c.286C>G
c.264C>G (p.Asn88Lys)
c.278C>G
c.633C>G (p.Asn211Lys)
c.435C>G (p.Asn145Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120641610G=CA1397094510HGDc.858C= (p.Asn286=)
n.198C=
c.286C=
c.264C= (p.Asn88=)
c.278C=
c.633C= (p.Asn211=)
c.435C= (p.Asn145=)
3g.120641610G>TCA354073895HGDc.858C>A (p.Asn286Lys)
n.198C>A
c.286C>A
c.264C>A (p.Asn88Lys)
c.278C>A
c.633C>A (p.Asn211Lys)
c.435C>A (p.Asn145Lys)
3g.120641611T>ACA354073898HGDc.857A>T (p.Asn286Ile)
n.197A>T
c.285A>T
c.263A>T (p.Asn88Ile)
c.277A>T
c.632A>T (p.Asn211Ile)
c.434A>T (p.Asn145Ile)
3g.120641611T>CCA354073896HGDc.857A>G (p.Asn286Ser)
n.197A>G
c.285A>G
c.263A>G (p.Asn88Ser)
c.277A>G
c.632A>G (p.Asn211Ser)
c.434A>G (p.Asn145Ser)
 gnomAD v4
3g.120641611T>GCA354073897HGDc.857A>C (p.Asn286Thr)
n.197A>C
c.285A>C
c.263A>C (p.Asn88Thr)
c.277A>C
c.632A>C (p.Asn211Thr)
c.434A>C (p.Asn145Thr)
3g.120641612dupCA2667171259HGDc.857dup (p.Asn286LysfsTer6)
n.197dup
c.285dup
c.263dup (p.Asn88LysfsTer6)
c.277dup
c.632dup (p.Asn211LysfsTer6)
c.434dup (p.Asn145LysfsTer6)
 gnomAD v4
3g.120641612T>ACA354073899HGDc.856A>T (p.Asn286Tyr)
n.196A>T
c.284A>T
c.262A>T (p.Asn88Tyr)
c.276A>T
c.631A>T (p.Asn211Tyr)
c.433A>T (p.Asn145Tyr)
3g.120641612T>CCA354073900HGDc.856A>G (p.Asn286Asp)
n.196A>G
c.284A>G
c.262A>G (p.Asn88Asp)
c.276A>G
c.631A>G (p.Asn211Asp)
c.433A>G (p.Asn145Asp)
3g.120641612T>GCA354073901HGDc.856A>C (p.Asn286His)
n.196A>C
c.284A>C
c.262A>C (p.Asn88His)
c.276A>C
c.631A>C (p.Asn211His)
c.433A>C (p.Asn145His)
3g.120641615_120641623dupCA2667171260HGDc.848_856dup (p.Ile285_Asn286insMetValIle)
n.188_196dup
c.276_284dup
c.254_262dup (p.Ile87_Asn88insMetValIle)
c.268_276dup
c.623_631dup (p.Ile210_Asn211insMetValIle)
c.425_433dup (p.Ile144_Asn145insMetValIle)
 gnomAD v4
3g.120641613G>ACA435227580HGDc.855C>T (p.Ile285=)
n.195C>T
c.283C>T
c.261C>T (p.Ile87=)
c.275C>T
c.630C>T (p.Ile210=)
c.432C>T (p.Ile144=)
3g.120641613G>CCA354073902HGDc.855C>G (p.Ile285Met)
n.195C>G
c.283C>G
c.261C>G (p.Ile87Met)
c.275C>G
c.630C>G (p.Ile210Met)
c.432C>G (p.Ile144Met)
3g.120641613G>TCA435227581HGDc.855C>A (p.Ile285=)
n.195C>A
c.283C>A
c.261C>A (p.Ile87=)
c.275C>A
c.630C>A (p.Ile210=)
c.432C>A (p.Ile144=)
3g.120641614A>CCA354073903HGDc.854T>G (p.Ile285Ser)
n.194T>G
c.282T>G
c.260T>G (p.Ile87Ser)
c.274T>G
c.629T>G (p.Ile210Ser)
c.431T>G (p.Ile144Ser)
3g.120641614A>GCA354073904HGDc.854T>C (p.Ile285Thr)
n.194T>C
c.282T>C
c.260T>C (p.Ile87Thr)
c.274T>C
c.629T>C (p.Ile210Thr)
c.431T>C (p.Ile144Thr)
3g.120641614A>TCA354073905HGDc.854T>A (p.Ile285Asn)
n.194T>A
c.282T>A
c.260T>A (p.Ile87Asn)
c.274T>A
c.629T>A (p.Ile210Asn)
c.431T>A (p.Ile144Asn)
3g.120641615T>ACA354073906HGDc.853A>T (p.Ile285Phe)
n.193A>T
c.281A>T
c.259A>T (p.Ile87Phe)
c.273A>T
c.628A>T (p.Ile210Phe)
c.430A>T (p.Ile144Phe)
3g.120641615T>CCA354073907HGDc.853A>G (p.Ile285Val)
n.193A>G
c.281A>G
c.259A>G (p.Ile87Val)
c.273A>G
c.628A>G (p.Ile210Val)
c.430A>G (p.Ile144Val)
3g.120641615T>GCA354073908HGDc.853A>C (p.Ile285Leu)
n.193A>C
c.281A>C
c.259A>C (p.Ile87Leu)
c.273A>C
c.628A>C (p.Ile210Leu)
c.430A>C (p.Ile144Leu)
3g.120641616A=CA1397094511HGDc.852T= (p.Val284=)
n.192T=
c.280T=
c.258T= (p.Val86=)
c.272T=
c.627T= (p.Val209=)
c.429T= (p.Val143=)
3g.120641616A>CCA435227582HGDc.852T>G (p.Val284=)
n.192T>G
c.280T>G
c.258T>G (p.Val86=)
c.272T>G
c.627T>G (p.Val209=)
c.429T>G (p.Val143=)
3g.120641616A>GCA435227583HGDc.852T>C (p.Val284=)
n.192T>C
c.280T>C
c.258T>C (p.Val86=)
c.272T>C
c.627T>C (p.Val209=)
c.429T>C (p.Val143=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.120641616A>TCA435227584HGDc.852T>A (p.Val284=)
n.192T>A
c.280T>A
c.258T>A (p.Val86=)
c.272T>A
c.627T>A (p.Val209=)
c.429T>A (p.Val143=)
3g.120641617A>CCA354073909HGDc.851T>G (p.Val284Gly)
n.191T>G
c.279T>G
c.257T>G (p.Val86Gly)
c.271T>G
c.626T>G (p.Val209Gly)
c.428T>G (p.Val143Gly)
3g.120641617A>GCA354073910HGDc.851T>C (p.Val284Ala)
n.191T>C
c.279T>C
c.257T>C (p.Val86Ala)
c.271T>C
c.626T>C (p.Val209Ala)
c.428T>C (p.Val143Ala)
3g.120641617A>TCA354073911HGDc.851T>A (p.Val284Asp)
n.191T>A
c.279T>A
c.257T>A (p.Val86Asp)
c.271T>A
c.626T>A (p.Val209Asp)
c.428T>A (p.Val143Asp)
3g.120641618C>ACA354073914HGDc.850G>T (p.Val284Phe)
n.190G>T
c.278G>T
c.256G>T (p.Val86Phe)
c.270G>T
c.625G>T (p.Val209Phe)
c.427G>T (p.Val143Phe)
 gnomAD v4
3g.120641618C>GCA354073912HGDc.850G>C (p.Val284Leu)
n.190G>C
c.278G>C
c.256G>C (p.Val86Leu)
c.270G>C
c.625G>C (p.Val209Leu)
c.427G>C (p.Val143Leu)
3g.120641618C>TCA354073913HGDc.850G>A (p.Val284Ile)
n.190G>A
c.278G>A
c.256G>A (p.Val86Ile)
c.270G>A
c.625G>A (p.Val209Ile)
c.427G>A (p.Val143Ile)
 COSMIC
3g.120641619C>ACA354073915HGDc.849G>T (p.Met283Ile)
n.189G>T
c.277G>T
c.255G>T (p.Met85Ile)
c.269G>T
c.624G>T (p.Met208Ile)
c.426G>T (p.Met142Ile)
3g.120641619C=CA1397094512HGDc.849G= (p.Met283=)
n.189G=
c.277G=
c.255G= (p.Met85=)
c.269G=
c.624G= (p.Met208=)
c.426G= (p.Met142=)
3g.120641619C>GCA354073916HGDc.849G>C (p.Met283Ile)
n.189G>C
c.277G>C
c.255G>C (p.Met85Ile)
c.269G>C
c.624G>C (p.Met208Ile)
c.426G>C (p.Met142Ile)
3g.120641619C>TCA354073917HGDc.849G>A (p.Met283Ile)
n.189G>A
c.277G>A
c.255G>A (p.Met85Ile)
c.269G>A
c.624G>A (p.Met208Ile)
c.426G>A (p.Met142Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120641620A>CCA354073918HGDc.848T>G (p.Met283Arg)
n.188T>G
c.276T>G
c.254T>G (p.Met85Arg)
c.268T>G
c.623T>G (p.Met208Arg)
c.425T>G (p.Met142Arg)
3g.120641620A>GCA354073919HGDc.848T>C (p.Met283Thr)
n.188T>C
c.276T>C
c.254T>C (p.Met85Thr)
c.268T>C
c.623T>C (p.Met208Thr)
c.425T>C (p.Met142Thr)
3g.120641620A>TCA354073920HGDc.848T>A (p.Met283Lys)
n.188T>A
c.276T>A
c.254T>A (p.Met85Lys)
c.268T>A
c.623T>A (p.Met208Lys)
c.425T>A (p.Met142Lys)
3g.120641621T>ACA81783916HGDc.847A>T (p.Met283Leu)
n.187A>T
c.275A>T
c.253A>T (p.Met85Leu)
c.267A>T
c.622A>T (p.Met208Leu)
c.424A>T (p.Met142Leu)
 dbSNP gnomAD v4
3g.120641621T>CCA2560046HGDc.847A>G (p.Met283Val)
n.187A>G
c.275A>G
c.253A>G (p.Met85Val)
c.267A>G
c.622A>G (p.Met208Val)
c.424A>G (p.Met142Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120641621T>GCA354073921HGDc.847A>C (p.Met283Leu)
n.187A>C
c.275A>C
c.253A>C (p.Met85Leu)
c.267A>C
c.622A>C (p.Met208Leu)
c.424A>C (p.Met142Leu)
 gnomAD v4
3g.120641621T=CA1397094513HGDc.847A= (p.Met283=)
n.187A=
c.275A=
c.253A= (p.Met85=)
c.267A=
c.622A= (p.Met208=)
c.424A= (p.Met142=)
3g.120641622G>ACA435227586HGDc.846C>T (p.Phe282=)
n.186C>T
c.274C>T
c.252C>T (p.Phe84=)
c.266C>T
c.621C>T (p.Phe207=)
c.423C>T (p.Phe141=)
 dbSNP gnomAD v2 gnomAD v4
3g.120641622G>CCA354073922HGDc.846C>G (p.Phe282Leu)
n.186C>G
c.274C>G
c.252C>G (p.Phe84Leu)
c.266C>G
c.621C>G (p.Phe207Leu)
c.423C>G (p.Phe141Leu)
3g.120641622G=CA1397094514HGDc.846C= (p.Phe282=)
n.186C=
c.274C=
c.252C= (p.Phe84=)
c.266C=
c.621C= (p.Phe207=)
c.423C= (p.Phe141=)
3g.120641622G>TCA354073923HGDc.846C>A (p.Phe282Leu)
n.186C>A
c.274C>A
c.252C>A (p.Phe84Leu)
c.266C>A
c.621C>A (p.Phe207Leu)
c.423C>A (p.Phe141Leu)
3g.120641623A>CCA354073924HGDc.845T>G (p.Phe282Cys)
n.185T>G
c.273T>G
c.251T>G (p.Phe84Cys)
c.265T>G
c.620T>G (p.Phe207Cys)
c.422T>G (p.Phe141Cys)
3g.120641623A>GCA354073925HGDc.845T>C (p.Phe282Ser)
n.185T>C
c.273T>C
c.251T>C (p.Phe84Ser)
c.265T>C
c.620T>C (p.Phe207Ser)
c.422T>C (p.Phe141Ser)
3g.120641623A>TCA354073926HGDc.845T>A (p.Phe282Tyr)
n.185T>A
c.273T>A
c.251T>A (p.Phe84Tyr)
c.265T>A
c.620T>A (p.Phe207Tyr)
c.422T>A (p.Phe141Tyr)
3g.120641624A>CCA354073927HGDc.844T>G (p.Phe282Val)
n.184T>G
c.272T>G
c.250T>G (p.Phe84Val)
c.264T>G
c.619T>G (p.Phe207Val)
c.421T>G (p.Phe141Val)
 COSMIC
3g.120641624A>GCA354073929HGDc.844T>C (p.Phe282Leu)
n.184T>C
c.272T>C
c.250T>C (p.Phe84Leu)
c.264T>C
c.619T>C (p.Phe207Leu)
c.421T>C (p.Phe141Leu)
3g.120641624A>TCA354073928HGDc.844T>A (p.Phe282Ile)
n.184T>A
c.272T>A
c.250T>A (p.Phe84Ile)
c.264T>A
c.619T>A (p.Phe207Ile)
c.421T>A (p.Phe141Ile)
3g.120641625A=CA1397094515HGDc.843T= (p.Asn281=)
n.183T=
c.271T=
c.249T= (p.Asn83=)
c.263T=
c.618T= (p.Asn206=)
c.420T= (p.Asn140=)
3g.120641625A>CCA354073930HGDc.843T>G (p.Asn281Lys)
n.183T>G
c.271T>G
c.249T>G (p.Asn83Lys)
c.263T>G
c.618T>G (p.Asn206Lys)
c.420T>G (p.Asn140Lys)
3g.120641625A>GCA435227587HGDc.843T>C (p.Asn281=)
n.183T>C
c.271T>C
c.249T>C (p.Asn83=)
c.263T>C
c.618T>C (p.Asn206=)
c.420T>C (p.Asn140=)
 dbSNP
3g.120641625A>TCA354073931HGDc.843T>A (p.Asn281Lys)
n.183T>A
c.271T>A
c.249T>A (p.Asn83Lys)
c.263T>A
c.618T>A (p.Asn206Lys)
c.420T>A (p.Asn140Lys)
3g.120641626T>ACA354073932HGDc.842A>T (p.Asn281Ile)
n.182A>T
c.270A>T
c.248A>T (p.Asn83Ile)
c.262A>T
c.617A>T (p.Asn206Ile)
c.419A>T (p.Asn140Ile)
3g.120641626T>CCA354073933HGDc.842A>G (p.Asn281Ser)
n.182A>G
c.270A>G
c.248A>G (p.Asn83Ser)
c.262A>G
c.617A>G (p.Asn206Ser)
c.419A>G (p.Asn140Ser)
3g.120641626T>GCA354073934HGDc.842A>C (p.Asn281Thr)
n.182A>C
c.270A>C
c.248A>C (p.Asn83Thr)
c.262A>C
c.617A>C (p.Asn206Thr)
c.419A>C (p.Asn140Thr)
3g.120641627T>ACA354073935HGDc.841A>T (p.Asn281Tyr)
n.181A>T
c.269A>T
c.247A>T (p.Asn83Tyr)
c.261A>T
c.616A>T (p.Asn206Tyr)
c.418A>T (p.Asn140Tyr)
3g.120641627T>CCA81783924HGDc.841A>G (p.Asn281Asp)
n.181A>G
c.269A>G
c.247A>G (p.Asn83Asp)
c.261A>G
c.616A>G (p.Asn206Asp)
c.418A>G (p.Asn140Asp)
 dbSNP gnomAD v3 gnomAD v4
3g.120641627T>GCA354073936HGDc.841A>C (p.Asn281His)
n.181A>C
c.269A>C
c.247A>C (p.Asn83His)
c.261A>C
c.616A>C (p.Asn206His)
c.418A>C (p.Asn140His)
3g.120641627T=CA1397094516HGDc.841A= (p.Asn281=)
n.181A=
c.269A=
c.247A= (p.Asn83=)
c.261A=
c.616A= (p.Asn206=)
c.418A= (p.Asn140=)
3g.120641628C>ACA354073937HGDc.840G>T (p.Lys280Asn)
n.180G>T
c.268G>T
c.246G>T (p.Lys82Asn)
c.260G>T
c.615G>T (p.Lys205Asn)
c.417G>T (p.Lys139Asn)
3g.120641628C=CA1397094517HGDc.840G= (p.Lys280=)
n.180G=
c.268G=
c.246G= (p.Lys82=)
c.260G=
c.615G= (p.Lys205=)
c.417G= (p.Lys139=)
3g.120641628C>GCA354073938HGDc.840G>C (p.Lys280Asn)
n.180G>C
c.268G>C
c.246G>C (p.Lys82Asn)
c.260G>C
c.615G>C (p.Lys205Asn)
c.417G>C (p.Lys139Asn)
3g.120641628C>TCA2560047HGDc.840G>A (p.Lys280=)
n.180G>A
c.268G>A
c.246G>A (p.Lys82=)
c.260G>A
c.615G>A (p.Lys205=)
c.417G>A (p.Lys139=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120641629T>ACA354073939HGDc.839A>T (p.Lys280Met)
n.179A>T
c.267A>T
c.245A>T (p.Lys82Met)
c.259A>T
c.614A>T (p.Lys205Met)
c.416A>T (p.Lys139Met)
3g.120641629T>CCA354073941HGDc.839A>G (p.Lys280Arg)
n.179A>G
c.267A>G
c.245A>G (p.Lys82Arg)
c.259A>G
c.614A>G (p.Lys205Arg)
c.416A>G (p.Lys139Arg)
3g.120641629T>GCA354073940HGDc.839A>C (p.Lys280Thr)
n.179A>C
c.267A>C
c.245A>C (p.Lys82Thr)
c.259A>C
c.614A>C (p.Lys205Thr)
c.416A>C (p.Lys139Thr)
3g.120641630T>ACA354073942HGDc.838A>T (p.Lys280Ter)
n.178A>T
c.266A>T
c.244A>T (p.Lys82Ter)
c.258A>T
c.613A>T (p.Lys205Ter)
c.415A>T (p.Lys139Ter)
3g.120641630T>CCA354073943HGDc.838A>G (p.Lys280Glu)
n.178A>G
c.266A>G
c.244A>G (p.Lys82Glu)
c.258A>G
c.613A>G (p.Lys205Glu)
c.415A>G (p.Lys139Glu)
 dbSNP gnomAD v2 gnomAD v4
3g.120641630T>GCA354073944HGDc.838A>C (p.Lys280Gln)
n.178A>C
c.266A>C
c.244A>C (p.Lys82Gln)
c.258A>C
c.613A>C (p.Lys205Gln)
c.415A>C (p.Lys139Gln)
3g.120641630T=CA1397094518HGDc.838A= (p.Lys280=)
n.178A=
c.266A=
c.244A= (p.Lys82=)
c.258A=
c.613A= (p.Lys205=)
c.415A= (p.Lys139=)
3g.120641631C>ACA435227588HGDc.837G>T (p.Leu279=)
n.177G>T
c.265G>T
c.243G>T (p.Leu81=)
c.257G>T
c.612G>T (p.Leu204=)
c.414G>T (p.Leu138=)
3g.120641631C=CA1397094519HGDc.837G= (p.Leu279=)
n.177G=
c.265G=
c.243G= (p.Leu81=)
c.257G=
c.612G= (p.Leu204=)
c.414G= (p.Leu138=)
3g.120641631C>GCA435227589HGDc.837G>C (p.Leu279=)
n.177G>C
c.265G>C
c.243G>C (p.Leu81=)
c.257G>C
c.612G>C (p.Leu204=)
c.414G>C (p.Leu138=)
3g.120641631C>TCA2560048HGDc.837G>A (p.Leu279=)
n.177G>A
c.265G>A
c.243G>A (p.Leu81=)
c.257G>A
c.612G>A (p.Leu204=)
c.414G>A (p.Leu138=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120641632A>CCA354073945HGDc.836T>G (p.Leu279Arg)
n.176T>G
c.264T>G
c.242T>G (p.Leu81Arg)
c.256T>G
c.611T>G (p.Leu204Arg)
c.413T>G (p.Leu138Arg)
3g.120641632A>GCA354073946HGDc.836T>C (p.Leu279Pro)
n.176T>C
c.264T>C
c.242T>C (p.Leu81Pro)
c.256T>C
c.611T>C (p.Leu204Pro)
c.413T>C (p.Leu138Pro)
3g.120641632A>TCA354073947HGDc.836T>A (p.Leu279Gln)
n.176T>A
c.264T>A
c.242T>A (p.Leu81Gln)
c.256T>A
c.611T>A (p.Leu204Gln)
c.413T>A (p.Leu138Gln)
3g.120641633G>ACA2560050HGDc.835C>T (p.Leu279=)
n.175C>T
c.263C>T
c.241C>T (p.Leu81=)
c.255C>T
c.610C>T (p.Leu204=)
c.412C>T (p.Leu138=)
 dbSNP ExAC gnomAD v2
3g.120641633G>CCA354073948HGDc.835C>G (p.Leu279Val)
n.175C>G
c.263C>G
c.241C>G (p.Leu81Val)
c.255C>G
c.610C>G (p.Leu204Val)
c.412C>G (p.Leu138Val)
3g.120641633G=CA1397094520HGDc.835C= (p.Leu279=)
n.175C=
c.263C=
c.241C= (p.Leu81=)
c.255C=
c.610C= (p.Leu204=)
c.412C= (p.Leu138=)
3g.120641633G>TCA2560049HGDc.835C>A (p.Leu279Met)
n.175C>A
c.263C>A
c.241C>A (p.Leu81Met)
c.255C>A
c.610C>A (p.Leu204Met)
c.412C>A (p.Leu138Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120641634G>ACA435227590HGDc.834C>T (p.Asn278=)
n.174C>T
c.262C>T
c.240C>T (p.Asn80=)
c.254C>T
c.609C>T (p.Asn203=)
c.411C>T (p.Asn137=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120641634G>CCA354073949HGDc.834C>G (p.Asn278Lys)
n.174C>G
c.262C>G
c.240C>G (p.Asn80Lys)
c.254C>G
c.609C>G (p.Asn203Lys)
c.411C>G (p.Asn137Lys)
 dbSNP gnomAD v2 gnomAD v4
3g.120641634G=CA1397094521HGDc.834C= (p.Asn278=)
n.174C=
c.262C=
c.240C= (p.Asn80=)
c.254C=
c.609C= (p.Asn203=)
c.411C= (p.Asn137=)
3g.120641634G>TCA354073950HGDc.834C>A (p.Asn278Lys)
n.174C>A
c.262C>A
c.240C>A (p.Asn80Lys)
c.254C>A
c.609C>A (p.Asn203Lys)
c.411C>A (p.Asn137Lys)
 gnomAD v4
3g.120641635T>ACA354073951HGDc.833A>T (p.Asn278Ile)
n.173A>T
c.261A>T
c.239A>T (p.Asn80Ile)
c.253A>T
c.608A>T (p.Asn203Ile)
c.410A>T (p.Asn137Ile)
3g.120641635T>CCA354073952HGDc.833A>G (p.Asn278Ser)
n.173A>G
c.261A>G
c.239A>G (p.Asn80Ser)
c.253A>G
c.608A>G (p.Asn203Ser)
c.410A>G (p.Asn137Ser)
3g.120641635T>GCA354073953HGDc.833A>C (p.Asn278Thr)
n.173A>C
c.261A>C
c.239A>C (p.Asn80Thr)
c.253A>C
c.608A>C (p.Asn203Thr)
c.410A>C (p.Asn137Thr)
3g.120641636T>ACA354073955HGDc.832A>T (p.Asn278Tyr)
n.172A>T
c.260A>T
c.238A>T (p.Asn80Tyr)
c.252A>T
c.607A>T (p.Asn203Tyr)
c.409A>T (p.Asn137Tyr)
3g.120641636T>CCA2560051HGDc.832A>G (p.Asn278Asp)
n.172A>G
c.260A>G
c.238A>G (p.Asn80Asp)
c.252A>G
c.607A>G (p.Asn203Asp)
c.409A>G (p.Asn137Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120641636T>GCA354073954HGDc.832A>C (p.Asn278His)
n.172A>C
c.260A>C
c.238A>C (p.Asn80His)
c.252A>C
c.607A>C (p.Asn203His)
c.409A>C (p.Asn137His)
3g.120641636T=CA1397094522HGDc.832A= (p.Asn278=)
n.172A=
c.260A=
c.238A= (p.Asn80=)
c.252A=
c.607A= (p.Asn203=)
c.409A= (p.Asn137=)
3g.120641637G>ACA435227591HGDc.831C>T (p.Tyr277=)
n.171C>T
c.259C>T
c.237C>T (p.Tyr79=)
c.251C>T
c.606C>T (p.Tyr202=)
c.408C>T (p.Tyr136=)
 ClinVar dbSNP gnomAD v4
3g.120641637G>CCA354073956HGDc.831C>G (p.Tyr277Ter)
n.171C>G
c.259C>G
c.237C>G (p.Tyr79Ter)
c.251C>G
c.606C>G (p.Tyr202Ter)
c.408C>G (p.Tyr136Ter)
3g.120641637G=CA1397094523HGDc.831C= (p.Tyr277=)
n.171C=
c.259C=
c.237C= (p.Tyr79=)
c.251C=
c.606C= (p.Tyr202=)
c.408C= (p.Tyr136=)
3g.120641637G>TCA354073957HGDc.831C>A (p.Tyr277Ter)
n.171C>A
c.259C>A
c.237C>A (p.Tyr79Ter)
c.251C>A
c.606C>A (p.Tyr202Ter)
c.408C>A (p.Tyr136Ter)
3g.120641638T>ACA354073958HGDc.830A>T (p.Tyr277Phe)
n.170A>T
c.258A>T
c.236A>T (p.Tyr79Phe)
c.250A>T
c.605A>T (p.Tyr202Phe)
c.407A>T (p.Tyr136Phe)
3g.120641638T>CCA354073959HGDc.830A>G (p.Tyr277Cys)
n.170A>G
c.258A>G
c.236A>G (p.Tyr79Cys)
c.250A>G
c.605A>G (p.Tyr202Cys)
c.407A>G (p.Tyr136Cys)
3g.120641638T>GCA354073960HGDc.830A>C (p.Tyr277Ser)
n.170A>C
c.258A>C
c.236A>C (p.Tyr79Ser)
c.250A>C
c.605A>C (p.Tyr202Ser)
c.407A>C (p.Tyr136Ser)
3g.120641639A=CA1397094524HGDc.829T= (p.Tyr277=)
n.169T=
c.257T=
c.235T= (p.Tyr79=)
c.249T=
c.604T= (p.Tyr202=)
c.406T= (p.Tyr136=)
3g.120641639A>CCA354073961HGDc.829T>G (p.Tyr277Asp)
n.169T>G
c.257T>G
c.235T>G (p.Tyr79Asp)
c.249T>G
c.604T>G (p.Tyr202Asp)
c.406T>G (p.Tyr136Asp)
3g.120641639A>GCA2560052HGDc.829T>C (p.Tyr277His)
n.169T>C
c.257T>C
c.235T>C (p.Tyr79His)
c.249T>C
c.604T>C (p.Tyr202His)
c.406T>C (p.Tyr136His)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120641639A>TCA354073962HGDc.829T>A (p.Tyr277Asn)
n.169T>A
c.257T>A
c.235T>A (p.Tyr79Asn)
c.249T>A
c.604T>A (p.Tyr202Asn)
c.406T>A (p.Tyr136Asn)
3g.120641640C>ACA354073963HGDc.828G>T (p.Lys276Asn)
n.168G>T
c.256G>T
c.234G>T (p.Lys78Asn)
c.248G>T
c.603G>T (p.Lys201Asn)
c.405G>T (p.Lys135Asn)
3g.120641640C=CA1397094525HGDc.828G= (p.Lys276=)
n.168G=
c.256G=
c.234G= (p.Lys78=)
c.248G=
c.603G= (p.Lys201=)
c.405G= (p.Lys135=)
3g.120641640C>GCA354073964HGDc.828G>C (p.Lys276Asn)
n.168G>C
c.256G>C
c.234G>C (p.Lys78Asn)
c.248G>C
c.603G>C (p.Lys201Asn)
c.405G>C (p.Lys135Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.120641640C>TCA435227592HGDc.828G>A (p.Lys276=)
n.168G>A
c.256G>A
c.234G>A (p.Lys78=)
c.248G>A
c.603G>A (p.Lys201=)
c.405G>A (p.Lys135=)
 dbSNP gnomAD v2 gnomAD v4
3g.120641641T>ACA354073965HGDc.827A>T (p.Lys276Met)
n.167A>T
c.255A>T
c.233A>T (p.Lys78Met)
c.247A>T
c.602A>T (p.Lys201Met)
c.404A>T (p.Lys135Met)
3g.120641641T>CCA354073966HGDc.827A>G (p.Lys276Arg)
n.167A>G
c.255A>G
c.233A>G (p.Lys78Arg)
c.247A>G
c.602A>G (p.Lys201Arg)
c.404A>G (p.Lys135Arg)
 gnomAD v4
3g.120641641T>GCA354073967HGDc.827A>C (p.Lys276Thr)
n.167A>C
c.255A>C
c.233A>C (p.Lys78Thr)
c.247A>C
c.602A>C (p.Lys201Thr)
c.404A>C (p.Lys135Thr)
3g.120641642T>ACA354073968HGDc.826A>T (p.Lys276Ter)
n.166A>T
c.254A>T
c.232A>T (p.Lys78Ter)
c.246A>T
c.601A>T (p.Lys201Ter)
c.403A>T (p.Lys135Ter)
3g.120641642T>CCA354073970HGDc.826A>G (p.Lys276Glu)
n.166A>G
c.254A>G
c.232A>G (p.Lys78Glu)
c.246A>G
c.601A>G (p.Lys201Glu)
c.403A>G (p.Lys135Glu)
3g.120641642T>GCA354073969HGDc.826A>C (p.Lys276Gln)
n.166A>C
c.254A>C
c.232A>C (p.Lys78Gln)
c.246A>C
c.601A>C (p.Lys201Gln)
c.403A>C (p.Lys135Gln)
3g.120641643G>ACA2560053HGDc.825C>T (p.Tyr275=)
n.165C>T
c.253C>T
c.231C>T (p.Tyr77=)
c.245C>T
c.600C>T (p.Tyr200=)
c.402C>T (p.Tyr134=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120641643G>CCA354073971HGDc.825C>G (p.Tyr275Ter)
n.165C>G
c.253C>G
c.231C>G (p.Tyr77Ter)
c.245C>G
c.600C>G (p.Tyr200Ter)
c.402C>G (p.Tyr134Ter)
3g.120641643G=CA1397094526HGDc.825C= (p.Tyr275=)
n.165C=
c.253C=
c.231C= (p.Tyr77=)
c.245C=
c.600C= (p.Tyr200=)
c.402C= (p.Tyr134=)
3g.120641643G>TCA354073972HGDc.825C>A (p.Tyr275Ter)
n.165C>A
c.253C>A
c.231C>A (p.Tyr77Ter)
c.245C>A
c.600C>A (p.Tyr200Ter)
c.402C>A (p.Tyr134Ter)
3g.120641644delCA2580068599HGDc.824del (p.Tyr275SerfsTer5)
n.164del
c.252del
c.230del (p.Tyr77SerfsTer5)
c.244del
c.599del (p.Tyr200SerfsTer5)
c.401del (p.Tyr134SerfsTer5)
 ClinVar
3g.120641644T>ACA354073973HGDc.824A>T (p.Tyr275Phe)
n.164A>T
c.252A>T
c.230A>T (p.Tyr77Phe)
c.244A>T
c.599A>T (p.Tyr200Phe)
c.401A>T (p.Tyr134Phe)
 gnomAD v4
3g.120641644T>CCA2560054HGDc.824A>G (p.Tyr275Cys)
n.164A>G
c.252A>G
c.230A>G (p.Tyr77Cys)
c.244A>G
c.599A>G (p.Tyr200Cys)
c.401A>G (p.Tyr134Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120641644T>GCA354073974HGDc.824A>C (p.Tyr275Ser)
n.164A>C
c.252A>C
c.230A>C (p.Tyr77Ser)
c.244A>C
c.599A>C (p.Tyr200Ser)
c.401A>C (p.Tyr134Ser)
3g.120641644T=CA1397094527HGDc.824A= (p.Tyr275=)
n.164A=
c.252A=
c.230A= (p.Tyr77=)
c.244A=
c.599A= (p.Tyr200=)
c.401A= (p.Tyr134=)
3g.120641645A>CCA354073975HGDc.823T>G (p.Tyr275Asp)
n.163T>G
c.251T>G
c.229T>G (p.Tyr77Asp)
c.243T>G
c.598T>G (p.Tyr200Asp)
c.400T>G (p.Tyr134Asp)
3g.120641645A>GCA354073976HGDc.823T>C (p.Tyr275His)
n.163T>C
c.251T>C
c.229T>C (p.Tyr77His)
c.243T>C
c.598T>C (p.Tyr200His)
c.400T>C (p.Tyr134His)
3g.120641645A>TCA354073977HGDc.823T>A (p.Tyr275Asn)
n.163T>A
c.251T>A
c.229T>A (p.Tyr77Asn)
c.243T>A
c.598T>A (p.Tyr200Asn)
c.400T>A (p.Tyr134Asn)
3g.120641646G>ACA2560055HGDc.822C>T (p.Pro274=)
n.162C>T
c.250C>T
c.228C>T (p.Pro76=)
c.242C>T
c.597C>T (p.Pro199=)
c.399C>T (p.Pro133=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120641646G>CCA435227593HGDc.822C>G (p.Pro274=)
n.162C>G
c.250C>G
c.228C>G (p.Pro76=)
c.242C>G
c.597C>G (p.Pro199=)
c.399C>G (p.Pro133=)
3g.120641646G=CA1397094528HGDc.822C= (p.Pro274=)
n.162C=
c.250C=
c.228C= (p.Pro76=)
c.242C=
c.597C= (p.Pro199=)
c.399C= (p.Pro133=)
3g.120641646G>TCA435227594HGDc.822C>A (p.Pro274=)
n.162C>A
c.250C>A
c.228C>A (p.Pro76=)
c.242C>A
c.597C>A (p.Pro199=)
c.399C>A (p.Pro133=)
3g.120641647G>ACA354073978HGDc.821C>T (p.Pro274Leu)
n.161C>T
c.249C>T
c.227C>T (p.Pro76Leu)
c.241C>T
c.596C>T (p.Pro199Leu)
c.398C>T (p.Pro133Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120641647G>CCA354073979HGDc.821C>G (p.Pro274Arg)
n.161C>G
c.249C>G
c.227C>G (p.Pro76Arg)
c.241C>G
c.596C>G (p.Pro199Arg)
c.398C>G (p.Pro133Arg)
3g.120641647G=CA1397094529HGDc.821C= (p.Pro274=)
n.161C=
c.249C=
c.227C= (p.Pro76=)
c.241C=
c.596C= (p.Pro199=)
c.398C= (p.Pro133=)
3g.120641647G>TCA354073980HGDc.821C>A (p.Pro274His)
n.161C>A
c.249C>A
c.227C>A (p.Pro76His)
c.241C>A
c.596C>A (p.Pro199His)
c.398C>A (p.Pro133His)
3g.120641648G>ACA354073982HGDc.820C>T (p.Pro274Ser)
n.160C>T
c.248C>T
c.226C>T (p.Pro76Ser)
c.240C>T
c.595C>T (p.Pro199Ser)
c.397C>T (p.Pro133Ser)
 dbSNP gnomAD v4
3g.120641648G>CCA354073981HGDc.820C>G (p.Pro274Ala)
n.160C>G
c.248C>G
c.226C>G (p.Pro76Ala)
c.240C>G
c.595C>G (p.Pro199Ala)
c.397C>G (p.Pro133Ala)
3g.120641648G=CA1397094530HGDc.820C= (p.Pro274=)
n.160C=
c.248C=
c.226C= (p.Pro76=)
c.240C=
c.595C= (p.Pro199=)
c.397C= (p.Pro133=)
3g.120641648G>TCA81783975HGDc.820C>A (p.Pro274Thr)
n.160C>A
c.248C>A
c.226C>A (p.Pro76Thr)
c.240C>A
c.595C>A (p.Pro199Thr)
c.397C>A (p.Pro133Thr)
 ClinVar dbSNP
3g.120641650_120641651dupCA914821893HGDc.819_820dup (p.Pro274HisfsTer7)
n.159_160dup
c.247_248dup
c.225_226dup (p.Pro76HisfsTer7)
c.239_240dup
c.594_595dup (p.Pro199HisfsTer7)
c.396_397dup (p.Pro133HisfsTer7)
 gnomAD v2 gnomAD v4
3g.120641649T>ACA435227595HGDc.819A>T (p.Thr273=)
n.159A>T
c.247A>T
c.225A>T (p.Thr75=)
c.239A>T
c.594A>T (p.Thr198=)
c.396A>T (p.Thr132=)
3g.120641649T>CCA435227596HGDc.819A>G (p.Thr273=)
n.159A>G
c.247A>G
c.225A>G (p.Thr75=)
c.239A>G
c.594A>G (p.Thr198=)
c.396A>G (p.Thr132=)
 gnomAD v4
3g.120641649T>GCA435227597HGDc.819A>C (p.Thr273=)
n.159A>C
c.247A>C
c.225A>C (p.Thr75=)
c.239A>C
c.594A>C (p.Thr198=)
c.396A>C (p.Thr132=)
3g.120641650G>ACA354073983HGDc.818C>T (p.Thr273Ile)
n.158C>T
c.246C>T
c.224C>T (p.Thr75Ile)
c.238C>T
c.593C>T (p.Thr198Ile)
c.395C>T (p.Thr132Ile)
 gnomAD v4
3g.120641650G>CCA354073984HGDc.818C>G (p.Thr273Arg)
n.158C>G
c.246C>G
c.224C>G (p.Thr75Arg)
c.238C>G
c.593C>G (p.Thr198Arg)
c.395C>G (p.Thr132Arg)
3g.120641650G>TCA354073985HGDc.818C>A (p.Thr273Lys)
n.158C>A
c.246C>A
c.224C>A (p.Thr75Lys)
c.238C>A
c.593C>A (p.Thr198Lys)
c.395C>A (p.Thr132Lys)
 COSMIC
3g.120641651T>ACA354073986HGDc.817A>T (p.Thr273Ser)
n.157A>T
c.245A>T
c.223A>T (p.Thr75Ser)
c.237A>T
c.592A>T (p.Thr198Ser)
c.394A>T (p.Thr132Ser)
3g.120641651T>CCA354073987HGDc.817A>G (p.Thr273Ala)
n.157A>G
c.245A>G
c.223A>G (p.Thr75Ala)
c.237A>G
c.592A>G (p.Thr198Ala)
c.394A>G (p.Thr132Ala)
3g.120641651T>GCA354073988HGDc.817A>C (p.Thr273Pro)
n.157A>C
c.245A>C
c.223A>C (p.Thr75Pro)
c.237A>C
c.592A>C (p.Thr198Pro)
c.394A>C (p.Thr132Pro)
3g.120641652A=CA1397094531HGDc.816T= (p.Tyr272=)
n.156T=
c.244T=
c.222T= (p.Tyr74=)
c.236T=
c.591T= (p.Tyr197=)
c.393T= (p.Tyr131=)
3g.120641652A>CCA354073989HGDc.816T>G (p.Tyr272Ter)
n.156T>G
c.244T>G
c.222T>G (p.Tyr74Ter)
c.236T>G
c.591T>G (p.Tyr197Ter)
c.393T>G (p.Tyr131Ter)
3g.120641652A>GCA81783979HGDc.816T>C (p.Tyr272=)
n.156T>C
c.244T>C
c.222T>C (p.Tyr74=)
c.236T>C
c.591T>C (p.Tyr197=)
c.393T>C (p.Tyr131=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120641652A>TCA354073990HGDc.816T>A (p.Tyr272Ter)
n.156T>A
c.244T>A
c.222T>A (p.Tyr74Ter)
c.236T>A
c.591T>A (p.Tyr197Ter)
c.393T>A (p.Tyr131Ter)
3g.120641653T>ACA354073991HGDc.815A>T (p.Tyr272Phe)
n.155A>T
c.243A>T
c.221A>T (p.Tyr74Phe)
c.235A>T
c.590A>T (p.Tyr197Phe)
c.392A>T (p.Tyr131Phe)
 gnomAD v4
3g.120641653T>CCA354073992HGDc.815A>G (p.Tyr272Cys)
n.155A>G
c.243A>G
c.221A>G (p.Tyr74Cys)
c.235A>G
c.590A>G (p.Tyr197Cys)
c.392A>G (p.Tyr131Cys)
 ClinVar
3g.120641653T>GCA354073993HGDc.815A>C (p.Tyr272Ser)
n.155A>C
c.243A>C
c.221A>C (p.Tyr74Ser)
c.235A>C
c.590A>C (p.Tyr197Ser)
c.392A>C (p.Tyr131Ser)
3g.120641654A>CCA354073994HGDc.814T>G (p.Tyr272Asp)
n.154T>G
c.242T>G
c.220T>G (p.Tyr74Asp)
c.234T>G
c.589T>G (p.Tyr197Asp)
c.391T>G (p.Tyr131Asp)
 gnomAD v4
3g.120641654A>GCA354073996HGDc.814T>C (p.Tyr272His)
n.154T>C
c.242T>C
c.220T>C (p.Tyr74His)
c.234T>C
c.589T>C (p.Tyr197His)
c.391T>C (p.Tyr131His)
3g.120641654A>TCA354073995HGDc.814T>A (p.Tyr272Asn)
n.154T>A
c.242T>A
c.220T>A (p.Tyr74Asn)
c.234T>A
c.589T>A (p.Tyr197Asn)
c.391T>A (p.Tyr131Asn)
3g.120641655A>CCA354073997HGDc.813T>G (p.Asn271Lys)
n.153T>G
c.241T>G
c.219T>G (p.Asn73Lys)
c.233T>G
c.588T>G (p.Asn196Lys)
c.390T>G (p.Asn130Lys)
3g.120641655A>GCA435227598HGDc.813T>C (p.Asn271=)
n.153T>C
c.241T>C
c.219T>C (p.Asn73=)
c.233T>C
c.588T>C (p.Asn196=)
c.390T>C (p.Asn130=)
3g.120641655A>TCA354073998HGDc.813T>A (p.Asn271Lys)
n.153T>A
c.241T>A
c.219T>A (p.Asn73Lys)
c.233T>A
c.588T>A (p.Asn196Lys)
c.390T>A (p.Asn130Lys)
3g.120641656T>ACA354073999HGDc.812A>T (p.Asn271Ile)
n.152A>T
c.240A>T
c.218A>T (p.Asn73Ile)
c.232A>T
c.587A>T (p.Asn196Ile)
c.389A>T (p.Asn130Ile)
 COSMIC
3g.120641656T>CCA354074000HGDc.812A>G (p.Asn271Ser)
n.152A>G
c.240A>G
c.218A>G (p.Asn73Ser)
c.232A>G
c.587A>G (p.Asn196Ser)
c.389A>G (p.Asn130Ser)
3g.120641656T>GCA354074001HGDc.812A>C (p.Asn271Thr)
n.152A>C
c.240A>C
c.218A>C (p.Asn73Thr)
c.232A>C
c.587A>C (p.Asn196Thr)
c.389A>C (p.Asn130Thr)
3g.120641657T>ACA354074004HGDc.811A>T (p.Asn271Tyr)
n.151A>T
c.239A>T
c.217A>T (p.Asn73Tyr)
c.231A>T
c.586A>T (p.Asn196Tyr)
c.388A>T (p.Asn130Tyr)
3g.120641657T>CCA354074003HGDc.811A>G (p.Asn271Asp)
n.151A>G
c.239A>G
c.217A>G (p.Asn73Asp)
c.231A>G
c.586A>G (p.Asn196Asp)
c.388A>G (p.Asn130Asp)
3g.120641657T>GCA354074002HGDc.811A>C (p.Asn271His)
n.151A>C
c.239A>C
c.217A>C (p.Asn73His)
c.231A>C
c.586A>C (p.Asn196His)
c.388A>C (p.Asn130His)
3g.120641658C>ACA435227599HGDc.810G>T (p.Gly270=)
n.150G>T
c.238G>T
c.216G>T (p.Gly72=)
c.230G>T
c.585G>T (p.Gly195=)
c.387G>T (p.Gly129=)
3g.120641658C=CA1397094532HGDc.810G= (p.Gly270=)
n.150G=
c.238G=
c.216G= (p.Gly72=)
c.230G=
c.585G= (p.Gly195=)
c.387G= (p.Gly129=)
3g.120641658C>GCA435227600HGDc.810G>C (p.Gly270=)
n.150G>C
c.238G>C
c.216G>C (p.Gly72=)
c.230G>C
c.585G>C (p.Gly195=)
c.387G>C (p.Gly129=)
3g.120641658C>TCA435227601HGDc.810G>A (p.Gly270=)
n.150G>A
c.238G>A
c.216G>A (p.Gly72=)
c.230G>A
c.585G>A (p.Gly195=)
c.387G>A (p.Gly129=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.120641659C>ACA354074005HGDc.809G>T (p.Gly270Val)
n.149G>T
c.237G>T
c.215G>T (p.Gly72Val)
c.229G>T
c.584G>T (p.Gly195Val)
c.386G>T (p.Gly129Val)
 COSMIC
3g.120641659C=CA1397094533HGDc.809G= (p.Gly270=)
n.149G=
c.237G=
c.215G= (p.Gly72=)
c.229G=
c.584G= (p.Gly195=)
c.386G= (p.Gly129=)
3g.120641659C>GCA354074006HGDc.809G>C (p.Gly270Ala)
n.149G>C
c.237G>C
c.215G>C (p.Gly72Ala)
c.229G>C
c.584G>C (p.Gly195Ala)
c.386G>C (p.Gly129Ala)
3g.120641659C>TCA81783982HGDc.809G>A (p.Gly270Glu)
n.149G>A
c.237G>A
c.215G>A (p.Gly72Glu)
c.229G>A
c.584G>A (p.Gly195Glu)
c.386G>A (p.Gly129Glu)
 dbSNP gnomAD v3 gnomAD v4
3g.120641660C>ACA81783990HGDc.808G>T (p.Gly270Trp)
n.148G>T
c.236G>T
c.214G>T (p.Gly72Trp)
c.228G>T
c.583G>T (p.Gly195Trp)
c.385G>T (p.Gly129Trp)
 dbSNP COSMIC
3g.120641660C=CA1397094534HGDc.808G= (p.Gly270=)
n.148G=
c.236G=
c.214G= (p.Gly72=)
c.228G=
c.583G= (p.Gly195=)
c.385G= (p.Gly129=)
3g.120641660C>GCA354074007HGDc.808G>C (p.Gly270Arg)
n.148G>C
c.236G>C
c.214G>C (p.Gly72Arg)
c.228G>C
c.583G>C (p.Gly195Arg)
c.385G>C (p.Gly129Arg)
3g.120641660C>TCA340049HGDc.808G>A (p.Gly270Arg)
n.148G>A
c.236G>A
c.214G>A (p.Gly72Arg)
c.228G>A
c.583G>A (p.Gly195Arg)
c.385G>A (p.Gly129Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120641661G>ACA2560056HGDc.807C>T (p.His269=)
n.147C>T
c.235C>T
c.213C>T (p.His71=)
c.227C>T
c.582C>T (p.His194=)
c.384C>T (p.His128=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.120641661G>CCA354074008HGDc.807C>G (p.His269Gln)
n.147C>G
c.235C>G
c.213C>G (p.His71Gln)
c.227C>G
c.582C>G (p.His194Gln)
c.384C>G (p.His128Gln)
3g.120641661G=CA1397094535HGDc.807C= (p.His269=)
n.147C=
c.235C=
c.213C= (p.His71=)
c.227C=
c.582C= (p.His194=)
c.384C= (p.His128=)
3g.120641661G>TCA354074009HGDc.807C>A (p.His269Gln)
n.147C>A
c.235C>A
c.213C>A (p.His71Gln)
c.227C>A
c.582C>A (p.His194Gln)
c.384C>A (p.His128Gln)
 dbSNP gnomAD v3 gnomAD v4
3g.120641662T>ACA354074010HGDc.806A>T (p.His269Leu)
n.146A>T
c.234A>T
c.212A>T (p.His71Leu)
c.226A>T
c.581A>T (p.His194Leu)
c.383A>T (p.His128Leu)
3g.120641662T>CCA2560057HGDc.806A>G (p.His269Arg)
n.146A>G
c.234A>G
c.212A>G (p.His71Arg)
c.226A>G
c.581A>G (p.His194Arg)
c.383A>G (p.His128Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.120641662T>GCA354074011HGDc.806A>C (p.His269Pro)
n.146A>C
c.234A>C
c.212A>C (p.His71Pro)
c.226A>C
c.581A>C (p.His194Pro)
c.383A>C (p.His128Pro)
3g.120641662T=CA1397094536HGDc.806A= (p.His269=)
n.146A=
c.234A=
c.212A= (p.His71=)
c.226A=
c.581A= (p.His194=)
c.383A= (p.His128=)
3g.120641663G>ACA2560058HGDc.805C>T (p.His269Tyr)
n.145C>T
c.233C>T
c.211C>T (p.His71Tyr)
c.225C>T
c.580C>T (p.His194Tyr)
c.382C>T (p.His128Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120641663G>CCA354074012HGDc.805C>G (p.His269Asp)
n.145C>G
c.233C>G
c.211C>G (p.His71Asp)
c.225C>G
c.580C>G (p.His194Asp)
c.382C>G (p.His128Asp)
3g.120641663G=CA1397094537HGDc.805C= (p.His269=)
n.145C=
c.233C=
c.211C= (p.His71=)
c.225C=
c.580C= (p.His194=)
c.382C= (p.His128=)
3g.120641663G>TCA354074013HGDc.805C>A (p.His269Asn)
n.145C>A
c.233C>A
c.211C>A (p.His71Asn)
c.225C>A
c.580C>A (p.His194Asn)
c.382C>A (p.His128Asn)
3g.120641667_120641671delCA2667171261HGDc.801_805del (p.Trp268ArgfsTer22)
n.141_145del
c.229_233del
c.207_211del (p.Trp70ArgfsTer22)
c.221_225del
c.576_580del (p.Trp193ArgfsTer22)
c.378_382del (p.Trp127ArgfsTer22)
 gnomAD v4
3g.120641664C>ACA354074014HGDc.804G>T (p.Trp268Cys)
n.144G>T
c.232G>T
c.210G>T (p.Trp70Cys)
c.224G>T
c.579G>T (p.Trp193Cys)
c.381G>T (p.Trp127Cys)
3g.120641664C>GCA354074015HGDc.804G>C (p.Trp268Cys)
n.144G>C
c.232G>C
c.210G>C (p.Trp70Cys)
c.224G>C
c.579G>C (p.Trp193Cys)
c.381G>C (p.Trp127Cys)
 ClinVar
3g.120641664C>TCA354074016HGDc.804G>A (p.Trp268Ter)
n.144G>A
c.232G>A
c.210G>A (p.Trp70Ter)
c.224G>A
c.579G>A (p.Trp193Ter)
c.381G>A (p.Trp127Ter)
3g.120641665C>ACA354074017HGDc.803G>T (p.Trp268Leu)
n.143G>T
c.231G>T
c.209G>T (p.Trp70Leu)
c.223G>T
c.578G>T (p.Trp193Leu)
c.380G>T (p.Trp127Leu)
3g.120641665C=CA1397094538HGDc.803G= (p.Trp268=)
n.143G=
c.231G=
c.209G= (p.Trp70=)
c.223G=
c.578G= (p.Trp193=)
c.380G= (p.Trp127=)
3g.120641665C>GCA354074018HGDc.803G>C (p.Trp268Ser)
n.143G>C
c.231G>C
c.209G>C (p.Trp70Ser)
c.223G>C
c.578G>C (p.Trp193Ser)
c.380G>C (p.Trp127Ser)
 gnomAD v4
3g.120641665C>TCA354074019HGDc.803G>A (p.Trp268Ter)
n.143G>A
c.231G>A
c.209G>A (p.Trp70Ter)
c.223G>A
c.578G>A (p.Trp193Ter)
c.380G>A (p.Trp127Ter)
 dbSNP gnomAD v4
3g.120641666A=CA1397094539HGDc.802T= (p.Trp268=)
n.142T=
c.230T=
c.208T= (p.Trp70=)
c.222T=
c.577T= (p.Trp193=)
c.379T= (p.Trp127=)
3g.120641666A>CCA354074020HGDc.802T>G (p.Trp268Gly)
n.142T>G
c.230T>G
c.208T>G (p.Trp70Gly)
c.222T>G
c.577T>G (p.Trp193Gly)
c.379T>G (p.Trp127Gly)
3g.120641666A>GCA354074022HGDc.802T>C (p.Trp268Arg)
n.142T>C
c.230T>C
c.208T>C (p.Trp70Arg)
c.222T>C
c.577T>C (p.Trp193Arg)
c.379T>C (p.Trp127Arg)
 dbSNP
3g.120641666A>TCA354074021HGDc.802T>A (p.Trp268Arg)
n.142T>A
c.230T>A
c.208T>A (p.Trp70Arg)
c.222T>A
c.577T>A (p.Trp193Arg)
c.379T>A (p.Trp127Arg)
3g.120641667G>ACA435227603HGDc.801C>T (p.Ala267=)
n.141C>T
c.229C>T
c.207C>T (p.Ala69=)
c.221C>T
c.576C>T (p.Ala192=)
c.378C>T (p.Ala126=)
3g.120641667G>CCA435227604HGDc.801C>G (p.Ala267=)
n.141C>G
c.229C>G
c.207C>G (p.Ala69=)
c.221C>G
c.576C>G (p.Ala192=)
c.378C>G (p.Ala126=)
3g.120641667G>TCA435227605HGDc.801C>A (p.Ala267=)
n.141C>A
c.229C>A
c.207C>A (p.Ala69=)
c.221C>A
c.576C>A (p.Ala192=)
c.378C>A (p.Ala126=)
3g.120641668G>ACA354074023HGDc.800C>T (p.Ala267Val)
n.140C>T
c.228C>T
c.206C>T (p.Ala69Val)
c.220C>T
c.575C>T (p.Ala192Val)
c.377C>T (p.Ala126Val)
 ClinVar
3g.120641668G>CCA354074024HGDc.800C>G (p.Ala267Gly)
n.140C>G
c.228C>G
c.206C>G (p.Ala69Gly)
c.220C>G
c.575C>G (p.Ala192Gly)
c.377C>G (p.Ala126Gly)
3g.120641668G>TCA354074025HGDc.800C>A (p.Ala267Asp)
n.140C>A
c.228C>A
c.206C>A (p.Ala69Asp)
c.220C>A
c.575C>A (p.Ala192Asp)
c.377C>A (p.Ala126Asp)
 COSMIC
3g.120641669C>ACA354074026HGDc.799G>T (p.Ala267Ser)
n.139G>T
c.227G>T
c.205G>T (p.Ala69Ser)
c.219G>T
c.574G>T (p.Ala192Ser)
c.376G>T (p.Ala126Ser)
3g.120641669C>GCA354074027HGDc.799G>C (p.Ala267Pro)
n.139G>C
c.227G>C
c.205G>C (p.Ala69Pro)
c.219G>C
c.574G>C (p.Ala192Pro)
c.376G>C (p.Ala126Pro)
3g.120641669C>TCA354074028HGDc.799G>A (p.Ala267Thr)
n.139G>A
c.227G>A
c.205G>A (p.Ala69Thr)
c.219G>A
c.574G>A (p.Ala192Thr)
c.376G>A (p.Ala126Thr)
 gnomAD v4
3g.120641670C>ACA435227606HGDc.798G>T (p.Val266=)
n.138G>T
c.226G>T
c.204G>T (p.Val68=)
c.218G>T
c.573G>T (p.Val191=)
c.375G>T (p.Val125=)
 dbSNP
3g.120641670C=CA1397094540HGDc.798G= (p.Val266=)
n.138G=
c.226G=
c.204G= (p.Val68=)
c.218G=
c.573G= (p.Val191=)
c.375G= (p.Val125=)
3g.120641670C>GCA435227607HGDc.798G>C (p.Val266=)
n.138G>C
c.226G>C
c.204G>C (p.Val68=)
c.218G>C
c.573G>C (p.Val191=)
c.375G>C (p.Val125=)
3g.120641670C>TCA2560059HGDc.798G>A (p.Val266=)
n.138G>A
c.226G>A
c.204G>A (p.Val68=)
c.218G>A
c.573G>A (p.Val191=)
c.375G>A (p.Val125=)
 dbSNP ExAC
3g.120641671A>CCA354074029HGDc.797T>G (p.Val266Gly)
n.137T>G
c.225T>G
c.203T>G (p.Val68Gly)
c.217T>G
c.572T>G (p.Val191Gly)
c.374T>G (p.Val125Gly)
3g.120641671A>GCA354074030HGDc.797T>C (p.Val266Ala)
n.137T>C
c.225T>C
c.203T>C (p.Val68Ala)
c.217T>C
c.572T>C (p.Val191Ala)
c.374T>C (p.Val125Ala)
3g.120641671A>TCA354074031HGDc.797T>A (p.Val266Glu)
n.137T>A
c.225T>A
c.203T>A (p.Val68Glu)
c.217T>A
c.572T>A (p.Val191Glu)
c.374T>A (p.Val125Glu)
3g.120641672C>ACA354074032HGDc.796G>T (p.Val266Leu)
n.136G>T
c.224G>T
c.202G>T (p.Val68Leu)
c.216G>T
c.571G>T (p.Val191Leu)
c.373G>T (p.Val125Leu)
3g.120641672C>GCA354074033HGDc.796G>C (p.Val266Leu)
n.136G>C
c.224G>C
c.202G>C (p.Val68Leu)
c.216G>C
c.571G>C (p.Val191Leu)
c.373G>C (p.Val125Leu)
3g.120641672C>TCA354074034HGDc.796G>A (p.Val266Met)
n.136G>A
c.224G>A
c.202G>A (p.Val68Met)
c.216G>A
c.571G>A (p.Val191Met)
c.373G>A (p.Val125Met)
3g.120641673A=CA1397094541HGDc.795T= (p.Val265=)
n.135T=
c.223T=
c.201T= (p.Val67=)
c.215T=
c.570T= (p.Val190=)
c.372T= (p.Val124=)
3g.120641673A>CCA435227608HGDc.795T>G (p.Val265=)
n.135T>G
c.223T>G
c.201T>G (p.Val67=)
c.215T>G
c.570T>G (p.Val190=)
c.372T>G (p.Val124=)
 dbSNP gnomAD v2 gnomAD v4
3g.120641673A>GCA435227609HGDc.795T>C (p.Val265=)
n.135T>C
c.223T>C
c.201T>C (p.Val67=)
c.215T>C
c.570T>C (p.Val190=)
c.372T>C (p.Val124=)
3g.120641673A>TCA435227610HGDc.795T>A (p.Val265=)
n.135T>A
c.223T>A
c.201T>A (p.Val67=)
c.215T>A
c.570T>A (p.Val190=)
c.372T>A (p.Val124=)
3g.120641674A=CA1397094542HGDc.794T= (p.Val265=)
n.134T=
c.222T=
c.200T= (p.Val67=)
c.214T=
c.569T= (p.Val190=)
c.371T= (p.Val124=)
3g.120641674A>CCA354074035HGDc.794T>G (p.Val265Gly)
n.134T>G
c.222T>G
c.200T>G (p.Val67Gly)
c.214T>G
c.569T>G (p.Val190Gly)
c.371T>G (p.Val124Gly)
3g.120641674A>GCA2560060HGDc.794T>C (p.Val265Ala)
n.134T>C
c.222T>C
c.200T>C (p.Val67Ala)
c.214T>C
c.569T>C (p.Val190Ala)
c.371T>C (p.Val124Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120641674A>TCA354074036HGDc.794T>A (p.Val265Asp)
n.134T>A
c.222T>A
c.200T>A (p.Val67Asp)
c.214T>A
c.569T>A (p.Val190Asp)
c.371T>A (p.Val124Asp)
3g.120641675C>ACA354074037HGDc.793G>T (p.Val265Phe)
n.133G>T
c.221G>T
c.199G>T (p.Val67Phe)
c.213G>T
c.568G>T (p.Val190Phe)
c.370G>T (p.Val124Phe)
3g.120641675C=CA1397094543HGDc.793G= (p.Val265=)
n.133G=
c.221G=
c.199G= (p.Val67=)
c.213G=
c.568G= (p.Val190=)
c.370G= (p.Val124=)
3g.120641675C>GCA354074038HGDc.793G>C (p.Val265Leu)
n.133G>C
c.221G>C
c.199G>C (p.Val67Leu)
c.213G>C
c.568G>C (p.Val190Leu)
c.370G>C (p.Val124Leu)
3g.120641675C>TCA2560061HGDc.793G>A (p.Val265Ile)
n.133G>A
c.221G>A
c.199G>A (p.Val67Ile)
c.213G>A
c.568G>A (p.Val190Ile)
c.370G>A (p.Val124Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120641676A>CCA354074039HGDc.792T>G (p.Asn264Lys)
n.132T>G
c.220T>G
c.198T>G (p.Asn66Lys)
c.212T>G
c.567T>G (p.Asn189Lys)
c.369T>G (p.Asn123Lys)
3g.120641676A>GCA435227611HGDc.792T>C (p.Asn264=)
n.132T>C
c.220T>C
c.198T>C (p.Asn66=)
c.212T>C
c.567T>C (p.Asn189=)
c.369T>C (p.Asn123=)
 ClinVar dbSNP gnomAD v4
3g.120641676A>TCA354074040HGDc.792T>A (p.Asn264Lys)
n.132T>A
c.220T>A
c.198T>A (p.Asn66Lys)
c.212T>A
c.567T>A (p.Asn189Lys)
c.369T>A (p.Asn123Lys)
 gnomAD v4
3g.120641677T>ACA354074041HGDc.791A>T (p.Asn264Ile)
n.131A>T
c.219A>T
c.197A>T (p.Asn66Ile)
c.211A>T
c.566A>T (p.Asn189Ile)
c.368A>T (p.Asn123Ile)
3g.120641677T>CCA354074042HGDc.791A>G (p.Asn264Ser)
n.131A>G
c.219A>G
c.197A>G (p.Asn66Ser)
c.211A>G
c.566A>G (p.Asn189Ser)
c.368A>G (p.Asn123Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120641677T>GCA354074043HGDc.791A>C (p.Asn264Thr)
n.131A>C
c.219A>C
c.197A>C (p.Asn66Thr)
c.211A>C
c.566A>C (p.Asn189Thr)
c.368A>C (p.Asn123Thr)
3g.120641677T=CA1397094544HGDc.791A= (p.Asn264=)
n.131A=
c.219A=
c.197A= (p.Asn66=)
c.211A=
c.566A= (p.Asn189=)
c.368A= (p.Asn123=)
3g.120641678T>ACA354074044HGDc.790A>T (p.Asn264Tyr)
n.130A>T
c.218A>T
c.196A>T (p.Asn66Tyr)
c.210A>T
c.565A>T (p.Asn189Tyr)
c.367A>T (p.Asn123Tyr)
3g.120641678T>CCA354074045HGDc.790A>G (p.Asn264Asp)
n.130A>G
c.218A>G
c.196A>G (p.Asn66Asp)
c.210A>G
c.565A>G (p.Asn189Asp)
c.367A>G (p.Asn123Asp)
3g.120641678T>GCA354074046HGDc.790A>C (p.Asn264His)
n.130A>C
c.218A>C
c.196A>C (p.Asn66His)
c.210A>C
c.565A>C (p.Asn189His)
c.367A>C (p.Asn123His)
3g.120641679G>ACA435227612HGDc.789C>T (p.Phe263=)
n.129C>T
c.217C>T
c.195C>T (p.Phe65=)
c.209C>T
c.564C>T (p.Phe188=)
c.366C>T (p.Phe122=)
3g.120641679G>CCA354074047HGDc.789C>G (p.Phe263Leu)
n.129C>G
c.217C>G
c.195C>G (p.Phe65Leu)
c.209C>G
c.564C>G (p.Phe188Leu)
c.366C>G (p.Phe122Leu)
3g.120641679G>TCA354074048HGDc.789C>A (p.Phe263Leu)
n.129C>A
c.217C>A
c.195C>A (p.Phe65Leu)
c.209C>A
c.564C>A (p.Phe188Leu)
c.366C>A (p.Phe122Leu)
3g.120641680A>CCA354074049HGDc.788T>G (p.Phe263Cys)
n.128T>G
c.216T>G
c.194T>G (p.Phe65Cys)
c.208T>G
c.563T>G (p.Phe188Cys)
c.365T>G (p.Phe122Cys)
3g.120641680A>GCA354074051HGDc.788T>C (p.Phe263Ser)
n.128T>C
c.216T>C
c.194T>C (p.Phe65Ser)
c.208T>C
c.563T>C (p.Phe188Ser)
c.365T>C (p.Phe122Ser)
3g.120641680A>TCA354074050HGDc.788T>A (p.Phe263Tyr)
n.128T>A
c.216T>A
c.194T>A (p.Phe65Tyr)
c.208T>A
c.563T>A (p.Phe188Tyr)
c.365T>A (p.Phe122Tyr)
3g.120641681A>CCA354074052HGDc.787T>G (p.Phe263Val)
n.127T>G
c.215T>G
c.193T>G (p.Phe65Val)
c.207T>G
c.562T>G (p.Phe188Val)
c.364T>G (p.Phe122Val)
3g.120641681A>GCA354074054HGDc.787T>C (p.Phe263Leu)
n.127T>C
c.215T>C
c.193T>C (p.Phe65Leu)
c.207T>C
c.562T>C (p.Phe188Leu)
c.364T>C (p.Phe122Leu)
 ClinVar gnomAD v4
3g.120641681A>TCA354074053HGDc.787T>A (p.Phe263Ile)
n.127T>A
c.215T>A
c.193T>A (p.Phe65Ile)
c.207T>A
c.562T>A (p.Phe188Ile)
c.364T>A (p.Phe122Ile)
3g.120641682delCA2667171262HGDc.786del (p.Phe263SerfsTer17)
n.126del
c.214del
c.192del (p.Phe65SerfsTer17)
c.206del
c.561del (p.Phe188SerfsTer17)
c.363del (p.Phe122SerfsTer17)
 gnomAD v4
3g.120641682C>ACA435227613HGDc.786G>T (p.Pro262=)
n.126G>T
c.214G>T
c.192G>T (p.Pro64=)
c.206G>T
c.561G>T (p.Pro187=)
c.363G>T (p.Pro121=)
 dbSNP gnomAD v4
3g.120641682C=CA1397094545HGDc.786G= (p.Pro262=)
n.126G=
c.214G=
c.192G= (p.Pro64=)
c.206G=
c.561G= (p.Pro187=)
c.363G= (p.Pro121=)
3g.120641682C>GCA435227614HGDc.786G>C (p.Pro262=)
n.126G>C
c.214G>C
c.192G>C (p.Pro64=)
c.206G>C
c.561G>C (p.Pro187=)
c.363G>C (p.Pro121=)
3g.120641682C>TCA2560062HGDc.786G>A (p.Pro262=)
n.126G>A
c.214G>A
c.192G>A (p.Pro64=)
c.206G>A
c.561G>A (p.Pro187=)
c.363G>A (p.Pro121=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.120641683G>ACA354074056HGDc.785C>T (p.Pro262Leu)
n.125C>T
c.213C>T
c.191C>T (p.Pro64Leu)
c.205C>T
c.560C>T (p.Pro187Leu)
c.362C>T (p.Pro121Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120641683G>CCA354074055HGDc.785C>G (p.Pro262Arg)
n.125C>G
c.213C>G
c.191C>G (p.Pro64Arg)
c.205C>G
c.560C>G (p.Pro187Arg)
c.362C>G (p.Pro121Arg)
3g.120641683G=CA1397094546HGDc.785C= (p.Pro262=)
n.125C=
c.213C=
c.191C= (p.Pro64=)
c.205C=
c.560C= (p.Pro187=)
c.362C= (p.Pro121=)
3g.120641683G>TCA2560063HGDc.785C>A (p.Pro262Gln)
n.125C>A
c.213C>A
c.191C>A (p.Pro64Gln)
c.205C>A
c.560C>A (p.Pro187Gln)
c.362C>A (p.Pro121Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120641684G>ACA354074057HGDc.784C>T (p.Pro262Ser)
n.124C>T
c.212C>T
c.190C>T (p.Pro64Ser)
c.204C>T
c.559C>T (p.Pro187Ser)
c.361C>T (p.Pro121Ser)
 dbSNP
3g.120641684G>CCA354074058HGDc.784C>G (p.Pro262Ala)
n.124C>G
c.212C>G
c.190C>G (p.Pro64Ala)
c.204C>G
c.559C>G (p.Pro187Ala)
c.361C>G (p.Pro121Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120641684G=CA1397094547HGDc.784C= (p.Pro262=)
n.124C=
c.212C=
c.190C= (p.Pro64=)
c.204C=
c.559C= (p.Pro187=)
c.361C= (p.Pro121=)
3g.120641684G>TCA354074059HGDc.784C>A (p.Pro262Thr)
n.124C>A
c.212C>A
c.190C>A (p.Pro64Thr)
c.204C>A
c.559C>A (p.Pro187Thr)
c.361C>A (p.Pro121Thr)
 gnomAD v4
3g.120641685G>ACA81784055HGDc.783C>T (p.Ser261=)
n.123C>T
c.211C>T
c.189C>T (p.Ser63=)
c.203C>T
c.558C>T (p.Ser186=)
c.360C>T (p.Ser120=)
 dbSNP gnomAD v4
3g.120641685G>CCA435227615HGDc.783C>G (p.Ser261=)
n.123C>G
c.211C>G
c.189C>G (p.Ser63=)
c.203C>G
c.558C>G (p.Ser186=)
c.360C>G (p.Ser120=)
3g.120641685G=CA1397094548HGDc.783C= (p.Ser261=)
n.123C=
c.211C=
c.189C= (p.Ser63=)
c.203C=
c.558C= (p.Ser186=)
c.360C= (p.Ser120=)
3g.120641685G>TCA435227616HGDc.783C>A (p.Ser261=)
n.123C>A
c.211C>A
c.189C>A (p.Ser63=)
c.203C>A
c.558C>A (p.Ser186=)
c.360C>A (p.Ser120=)
 dbSNP gnomAD v4
3g.120641686G>ACA354074060HGDc.782C>T (p.Ser261Phe)
n.122C>T
c.210C>T
c.188C>T (p.Ser63Phe)
c.202C>T
c.557C>T (p.Ser186Phe)
c.359C>T (p.Ser120Phe)
 gnomAD v4 COSMIC
3g.120641686G>CCA354074061HGDc.782C>G (p.Ser261Cys)
n.122C>G
c.210C>G
c.188C>G (p.Ser63Cys)
c.202C>G
c.557C>G (p.Ser186Cys)
c.359C>G (p.Ser120Cys)
3g.120641686G=CA1397094549HGDc.782C= (p.Ser261=)
n.122C=
c.210C=
c.188C= (p.Ser63=)
c.202C=
c.557C= (p.Ser186=)
c.359C= (p.Ser120=)
3g.120641686G>TCA354074062HGDc.782C>A (p.Ser261Tyr)
n.122C>A
c.210C>A
c.188C>A (p.Ser63Tyr)
c.202C>A
c.557C>A (p.Ser186Tyr)
c.359C>A (p.Ser120Tyr)
3g.120641687A>CCA354074063HGDc.781T>G (p.Ser261Ala)
n.121T>G
c.209T>G
c.187T>G (p.Ser63Ala)
c.201T>G
c.556T>G (p.Ser186Ala)
c.358T>G (p.Ser120Ala)
3g.120641687A>GCA354074064HGDc.781T>C (p.Ser261Pro)
n.121T>C
c.209T>C
c.187T>C (p.Ser63Pro)
c.201T>C
c.556T>C (p.Ser186Pro)
c.358T>C (p.Ser120Pro)
3g.120641687A>TCA354074065HGDc.781T>A (p.Ser261Thr)
n.121T>A
c.209T>A
c.187T>A (p.Ser63Thr)
c.201T>A
c.556T>A (p.Ser186Thr)
c.358T>A (p.Ser120Thr)
3g.120641687dupCA16040889HGDc.781dup (p.Ser261PhefsTer?)
n.121dup
c.209dup
c.187dup (p.Ser63PhefsTer?)
c.201dup
c.556dup (p.Ser186PhefsTer?)
c.358dup (p.Ser120PhefsTer?)
 ClinVar dbSNP
3g.120641687_120641690delinsAGACCA1397094550HGDc.778_781delinsGTCT (p.Val260=)
n.118_121delinsGTCT
c.206_209delinsGTCT
c.184_187delinsGTCT (p.Val62=)
c.198_201delinsGTCT
c.553_556delinsGTCT (p.Val185=)
c.355_358delinsGTCT (p.Val119=)
3g.120641688G>ACA435227617HGDc.780C>T (p.Val260=)
n.120C>T
c.208C>T
c.186C>T (p.Val62=)
c.200C>T
c.555C>T (p.Val185=)
c.357C>T (p.Val119=)
 COSMIC
3g.120641688G>CCA435227618HGDc.780C>G (p.Val260=)
n.120C>G
c.208C>G
c.186C>G (p.Val62=)
c.200C>G
c.555C>G (p.Val185=)
c.357C>G (p.Val119=)
3g.120641688G>TCA435227619HGDc.780C>A (p.Val260=)
n.120C>A
c.208C>A
c.186C>A (p.Val62=)
c.200C>A
c.555C>A (p.Val185=)
c.357C>A (p.Val119=)
3g.120641688_120641690delCA897954430HGDc.778_780del (p.Val260del)
n.118_120del
c.206_208del
c.184_186del (p.Val62del)
c.198_200del
c.553_555del (p.Val185del)
c.355_357del (p.Val119del)
 dbSNP gnomAD v3 gnomAD v4
3g.120641689A>CCA354074066HGDc.779T>G (p.Val260Gly)
n.119T>G
c.207T>G
c.185T>G (p.Val62Gly)
c.199T>G
c.554T>G (p.Val185Gly)
c.356T>G (p.Val119Gly)
3g.120641689A>GCA354074067HGDc.779T>C (p.Val260Ala)
n.119T>C
c.207T>C
c.185T>C (p.Val62Ala)
c.199T>C
c.554T>C (p.Val185Ala)
c.356T>C (p.Val119Ala)
3g.120641689A>TCA354074068HGDc.779T>A (p.Val260Asp)
n.119T>A
c.207T>A
c.185T>A (p.Val62Asp)
c.199T>A
c.554T>A (p.Val185Asp)
c.356T>A (p.Val119Asp)
3g.120641690C>ACA354074071HGDc.778G>T (p.Val260Phe)
n.118G>T
c.206G>T
c.184G>T (p.Val62Phe)
c.198G>T
c.553G>T (p.Val185Phe)
c.355G>T (p.Val119Phe)
3g.120641690C>GCA354074069HGDc.778G>C (p.Val260Leu)
n.118G>C
c.206G>C
c.184G>C (p.Val62Leu)
c.198G>C
c.553G>C (p.Val185Leu)
c.355G>C (p.Val119Leu)
3g.120641690C>TCA354074070HGDc.778G>A (p.Val260Ile)
n.118G>A
c.206G>A
c.184G>A (p.Val62Ile)
c.198G>A
c.553G>A (p.Val185Ile)
c.355G>A (p.Val119Ile)
 gnomAD v4
3g.120641691A>CCA354074072HGDc.777T>G (p.Asp259Glu)
n.117T>G
c.205T>G
c.183T>G (p.Asp61Glu)
c.197T>G
c.552T>G (p.Asp184Glu)
c.354T>G (p.Asp118Glu)
3g.120641691A>GCA435227620HGDc.777T>C (p.Asp259=)
n.117T>C
c.205T>C
c.183T>C (p.Asp61=)
c.197T>C
c.552T>C (p.Asp184=)
c.354T>C (p.Asp118=)
3g.120641691A>TCA354074073HGDc.777T>A (p.Asp259Glu)
n.117T>A
c.205T>A
c.183T>A (p.Asp61Glu)
c.197T>A
c.552T>A (p.Asp184Glu)
c.354T>A (p.Asp118Glu)
3g.120641692T>ACA354074074HGDc.776A>T (p.Asp259Val)
n.116A>T
c.204A>T
c.182A>T (p.Asp61Val)
c.196A>T
c.551A>T (p.Asp184Val)
c.353A>T (p.Asp118Val)
3g.120641692T>CCA354074075HGDc.776A>G (p.Asp259Gly)
n.116A>G
c.204A>G
c.182A>G (p.Asp61Gly)
c.196A>G
c.551A>G (p.Asp184Gly)
c.353A>G (p.Asp118Gly)
3g.120641692T>GCA354074076HGDc.776A>C (p.Asp259Ala)
n.116A>C
c.204A>C
c.182A>C (p.Asp61Ala)
c.196A>C
c.551A>C (p.Asp184Ala)
c.353A>C (p.Asp118Ala)
3g.120641692T=CA1397094551HGDc.776A= (p.Asp259=)
n.116A=
c.204A=
c.182A= (p.Asp61=)
c.196A=
c.551A= (p.Asp184=)
c.353A= (p.Asp118=)

Number of alleles fetched