Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.120640300_120643612del | CA2582342875 | HGD | c.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 |
3 | g.120641595del | CA2667171257 | HGD | c.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 |
3 | g.120641595G>A | CA435227567 | HGD | c.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 |
3 | g.120641595G>C | CA354073862 | HGD | c.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) | |
3 | g.120641595G= | CA1397094506 | HGD | c.873C= (p.Asp291=) n.213C= c.301C= c.279C= (p.Asp93=) c.293C= c.648C= (p.Asp216=) c.450C= (p.Asp150=) | |
3 | g.120641595G>T | CA2560044 | HGD | c.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 |
3 | g.120641596T>A | CA354073864 | HGD | c.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) | |
3 | g.120641596T>C | CA354073865 | HGD | c.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) | |
3 | g.120641596T>G | CA354073863 | HGD | c.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) | |
3 | g.120641597C>A | CA354073866 | HGD | c.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) | |
3 | g.120641597C>G | CA354073867 | HGD | c.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) | |
3 | g.120641597C>T | CA354073868 | HGD | c.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) | |
3 | g.120641598A>C | CA354073869 | HGD | c.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) | |
3 | g.120641598A>G | CA435227569 | HGD | c.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=) | |
3 | g.120641598A>T | CA354073870 | HGD | c.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) | |
3 | g.120641599A>C | CA354073873 | HGD | c.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) | |
3 | g.120641599A>G | CA354073871 | HGD | c.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) | |
3 | g.120641599A>T | CA354073872 | HGD | c.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) | |
3 | g.120641600A>C | CA354073874 | HGD | c.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) | |
3 | g.120641600A>G | CA354073875 | HGD | c.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) | |
3 | g.120641600A>T | CA354073876 | HGD | c.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) | |
3 | g.120641601G>A | CA435227570 | HGD | c.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=) | |
3 | g.120641601G>C | CA435227571 | HGD | c.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=) | |
3 | g.120641601G>T | CA435227572 | HGD | c.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=) | |
3 | g.120641602G>A | CA354073877 | HGD | c.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 |
3 | g.120641602G>C | CA354073878 | HGD | c.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) | |
3 | g.120641602G>T | CA354073879 | HGD | c.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) | |
3 | g.120641603C>A | CA354073882 | HGD | c.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) | |
3 | g.120641603C>G | CA354073881 | HGD | c.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) | |
3 | g.120641603C>T | CA354073880 | HGD | c.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) | |
3 | g.120641604C>A | CA435227573 | HGD | c.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=) | |
3 | g.120641604C>G | CA435227574 | HGD | c.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=) | |
3 | g.120641604C>T | CA435227575 | HGD | c.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=) | |
3 | g.120641605A= | CA1397094507 | HGD | c.863T= (p.Val288=) n.203T= c.291T= c.269T= (p.Val90=) c.283T= c.638T= (p.Val213=) c.440T= (p.Val147=) | |
3 | g.120641605A>C | CA354073883 | HGD | c.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) | |
3 | g.120641605A>G | CA354073884 | HGD | c.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) | |
3 | g.120641605A>T | CA354073885 | HGD | c.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 |
3 | g.120641606C>A | CA354073886 | HGD | c.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) | |
3 | g.120641606C= | CA1397094508 | HGD | c.862G= (p.Val288=) n.202G= c.290G= c.268G= (p.Val90=) c.282G= c.637G= (p.Val213=) c.439G= (p.Val147=) | |
3 | g.120641606C>G | CA354073887 | HGD | c.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) | |
3 | g.120641606C>T | CA354073888 | HGD | c.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 |
3 | g.120641607T>A | CA435227578 | HGD | c.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 |
3 | g.120641607T>C | CA435227577 | HGD | c.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 |
3 | g.120641607T>G | CA435227576 | HGD | c.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=) | |
3 | g.120641607T= | CA1397094509 | HGD | c.861A= (p.Ser287=) n.201A= c.289A= c.267A= (p.Ser89=) c.281A= c.636A= (p.Ser212=) c.438A= (p.Ser146=) | |
3 | g.120641608G>A | CA354073891 | HGD | c.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) | |
3 | g.120641608G>C | CA354073889 | HGD | c.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) | |
3 | g.120641608G>T | CA354073890 | HGD | c.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 |
3 | g.120641609A>C | CA354073892 | HGD | c.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) | |
3 | g.120641609A>G | CA354073893 | HGD | c.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) | |
3 | g.120641609A>T | CA354073894 | HGD | c.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) | |
3 | g.120641609_120641612dup | CA2667171258 | HGD | c.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 |
3 | g.120641610G>A | CA435227579 | HGD | c.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=) | |
3 | g.120641610G>C | CA2560045 | HGD | c.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 |
3 | g.120641610G= | CA1397094510 | HGD | c.858C= (p.Asn286=) n.198C= c.286C= c.264C= (p.Asn88=) c.278C= c.633C= (p.Asn211=) c.435C= (p.Asn145=) | |
3 | g.120641610G>T | CA354073895 | HGD | c.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) | |
3 | g.120641611T>A | CA354073898 | HGD | c.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) | |
3 | g.120641611T>C | CA354073896 | HGD | c.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 |
3 | g.120641611T>G | CA354073897 | HGD | c.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) | |
3 | g.120641612dup | CA2667171259 | HGD | c.857dup (p.Asn286LysfsTer6) n.197dup c.285dup c.263dup (p.Asn88LysfsTer6) c.277dup c.632dup (p.Asn211LysfsTer6) c.434dup (p.Asn145LysfsTer6) | gnomAD v4 |
3 | g.120641612T>A | CA354073899 | HGD | c.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) | |
3 | g.120641612T>C | CA354073900 | HGD | c.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) | |
3 | g.120641612T>G | CA354073901 | HGD | c.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) | |
3 | g.120641615_120641623dup | CA2667171260 | HGD | c.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 |
3 | g.120641613G>A | CA435227580 | HGD | c.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=) | |
3 | g.120641613G>C | CA354073902 | HGD | c.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) | |
3 | g.120641613G>T | CA435227581 | HGD | c.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=) | |
3 | g.120641614A>C | CA354073903 | HGD | c.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) | |
3 | g.120641614A>G | CA354073904 | HGD | c.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) | |
3 | g.120641614A>T | CA354073905 | HGD | c.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) | |
3 | g.120641615T>A | CA354073906 | HGD | c.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) | |
3 | g.120641615T>C | CA354073907 | HGD | c.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) | |
3 | g.120641615T>G | CA354073908 | HGD | c.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) | |
3 | g.120641616A= | CA1397094511 | HGD | c.852T= (p.Val284=) n.192T= c.280T= c.258T= (p.Val86=) c.272T= c.627T= (p.Val209=) c.429T= (p.Val143=) | |
3 | g.120641616A>C | CA435227582 | HGD | c.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=) | |
3 | g.120641616A>G | CA435227583 | HGD | c.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 |
3 | g.120641616A>T | CA435227584 | HGD | c.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=) | |
3 | g.120641617A>C | CA354073909 | HGD | c.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) | |
3 | g.120641617A>G | CA354073910 | HGD | c.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) | |
3 | g.120641617A>T | CA354073911 | HGD | c.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) | |
3 | g.120641618C>A | CA354073914 | HGD | c.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 |
3 | g.120641618C>G | CA354073912 | HGD | c.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) | |
3 | g.120641618C>T | CA354073913 | HGD | c.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 |
3 | g.120641619C>A | CA354073915 | HGD | c.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) | |
3 | g.120641619C= | CA1397094512 | HGD | c.849G= (p.Met283=) n.189G= c.277G= c.255G= (p.Met85=) c.269G= c.624G= (p.Met208=) c.426G= (p.Met142=) | |
3 | g.120641619C>G | CA354073916 | HGD | c.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) | |
3 | g.120641619C>T | CA354073917 | HGD | c.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 |
3 | g.120641620A>C | CA354073918 | HGD | c.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) | |
3 | g.120641620A>G | CA354073919 | HGD | c.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) | |
3 | g.120641620A>T | CA354073920 | HGD | c.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) | |
3 | g.120641621T>A | CA81783916 | HGD | c.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 |
3 | g.120641621T>C | CA2560046 | HGD | c.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 |
3 | g.120641621T>G | CA354073921 | HGD | c.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 |
3 | g.120641621T= | CA1397094513 | HGD | c.847A= (p.Met283=) n.187A= c.275A= c.253A= (p.Met85=) c.267A= c.622A= (p.Met208=) c.424A= (p.Met142=) | |
3 | g.120641622G>A | CA435227586 | HGD | c.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 |
3 | g.120641622G>C | CA354073922 | HGD | c.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) | |
3 | g.120641622G= | CA1397094514 | HGD | c.846C= (p.Phe282=) n.186C= c.274C= c.252C= (p.Phe84=) c.266C= c.621C= (p.Phe207=) c.423C= (p.Phe141=) | |
3 | g.120641622G>T | CA354073923 | HGD | c.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) | |
3 | g.120641623A>C | CA354073924 | HGD | c.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) | |
3 | g.120641623A>G | CA354073925 | HGD | c.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) | |
3 | g.120641623A>T | CA354073926 | HGD | c.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) | |
3 | g.120641624A>C | CA354073927 | HGD | c.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 |
3 | g.120641624A>G | CA354073929 | HGD | c.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) | |
3 | g.120641624A>T | CA354073928 | HGD | c.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) | |
3 | g.120641625A= | CA1397094515 | HGD | c.843T= (p.Asn281=) n.183T= c.271T= c.249T= (p.Asn83=) c.263T= c.618T= (p.Asn206=) c.420T= (p.Asn140=) | |
3 | g.120641625A>C | CA354073930 | HGD | c.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) | |
3 | g.120641625A>G | CA435227587 | HGD | c.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 |
3 | g.120641625A>T | CA354073931 | HGD | c.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) | |
3 | g.120641626T>A | CA354073932 | HGD | c.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) | |
3 | g.120641626T>C | CA354073933 | HGD | c.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) | |
3 | g.120641626T>G | CA354073934 | HGD | c.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) | |
3 | g.120641627T>A | CA354073935 | HGD | c.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) | |
3 | g.120641627T>C | CA81783924 | HGD | c.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 |
3 | g.120641627T>G | CA354073936 | HGD | c.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) | |
3 | g.120641627T= | CA1397094516 | HGD | c.841A= (p.Asn281=) n.181A= c.269A= c.247A= (p.Asn83=) c.261A= c.616A= (p.Asn206=) c.418A= (p.Asn140=) | |
3 | g.120641628C>A | CA354073937 | HGD | c.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) | |
3 | g.120641628C= | CA1397094517 | HGD | c.840G= (p.Lys280=) n.180G= c.268G= c.246G= (p.Lys82=) c.260G= c.615G= (p.Lys205=) c.417G= (p.Lys139=) | |
3 | g.120641628C>G | CA354073938 | HGD | c.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) | |
3 | g.120641628C>T | CA2560047 | HGD | c.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 |
3 | g.120641629T>A | CA354073939 | HGD | c.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) | |
3 | g.120641629T>C | CA354073941 | HGD | c.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) | |
3 | g.120641629T>G | CA354073940 | HGD | c.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) | |
3 | g.120641630T>A | CA354073942 | HGD | c.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) | |
3 | g.120641630T>C | CA354073943 | HGD | c.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 |
3 | g.120641630T>G | CA354073944 | HGD | c.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) | |
3 | g.120641630T= | CA1397094518 | HGD | c.838A= (p.Lys280=) n.178A= c.266A= c.244A= (p.Lys82=) c.258A= c.613A= (p.Lys205=) c.415A= (p.Lys139=) | |
3 | g.120641631C>A | CA435227588 | HGD | c.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=) | |
3 | g.120641631C= | CA1397094519 | HGD | c.837G= (p.Leu279=) n.177G= c.265G= c.243G= (p.Leu81=) c.257G= c.612G= (p.Leu204=) c.414G= (p.Leu138=) | |
3 | g.120641631C>G | CA435227589 | HGD | c.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=) | |
3 | g.120641631C>T | CA2560048 | HGD | c.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 |
3 | g.120641632A>C | CA354073945 | HGD | c.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) | |
3 | g.120641632A>G | CA354073946 | HGD | c.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) | |
3 | g.120641632A>T | CA354073947 | HGD | c.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) | |
3 | g.120641633G>A | CA2560050 | HGD | c.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 |
3 | g.120641633G>C | CA354073948 | HGD | c.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) | |
3 | g.120641633G= | CA1397094520 | HGD | c.835C= (p.Leu279=) n.175C= c.263C= c.241C= (p.Leu81=) c.255C= c.610C= (p.Leu204=) c.412C= (p.Leu138=) | |
3 | g.120641633G>T | CA2560049 | HGD | c.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 |
3 | g.120641634G>A | CA435227590 | HGD | c.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 |
3 | g.120641634G>C | CA354073949 | HGD | c.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 |
3 | g.120641634G= | CA1397094521 | HGD | c.834C= (p.Asn278=) n.174C= c.262C= c.240C= (p.Asn80=) c.254C= c.609C= (p.Asn203=) c.411C= (p.Asn137=) | |
3 | g.120641634G>T | CA354073950 | HGD | c.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 |
3 | g.120641635T>A | CA354073951 | HGD | c.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) | |
3 | g.120641635T>C | CA354073952 | HGD | c.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) | |
3 | g.120641635T>G | CA354073953 | HGD | c.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) | |
3 | g.120641636T>A | CA354073955 | HGD | c.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) | |
3 | g.120641636T>C | CA2560051 | HGD | c.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 |
3 | g.120641636T>G | CA354073954 | HGD | c.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) | |
3 | g.120641636T= | CA1397094522 | HGD | c.832A= (p.Asn278=) n.172A= c.260A= c.238A= (p.Asn80=) c.252A= c.607A= (p.Asn203=) c.409A= (p.Asn137=) | |
3 | g.120641637G>A | CA435227591 | HGD | c.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 |
3 | g.120641637G>C | CA354073956 | HGD | c.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) | |
3 | g.120641637G= | CA1397094523 | HGD | c.831C= (p.Tyr277=) n.171C= c.259C= c.237C= (p.Tyr79=) c.251C= c.606C= (p.Tyr202=) c.408C= (p.Tyr136=) | |
3 | g.120641637G>T | CA354073957 | HGD | c.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) | |
3 | g.120641638T>A | CA354073958 | HGD | c.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) | |
3 | g.120641638T>C | CA354073959 | HGD | c.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) | |
3 | g.120641638T>G | CA354073960 | HGD | c.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) | |
3 | g.120641639A= | CA1397094524 | HGD | c.829T= (p.Tyr277=) n.169T= c.257T= c.235T= (p.Tyr79=) c.249T= c.604T= (p.Tyr202=) c.406T= (p.Tyr136=) | |
3 | g.120641639A>C | CA354073961 | HGD | c.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) | |
3 | g.120641639A>G | CA2560052 | HGD | c.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 |
3 | g.120641639A>T | CA354073962 | HGD | c.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) | |
3 | g.120641640C>A | CA354073963 | HGD | c.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) | |
3 | g.120641640C= | CA1397094525 | HGD | c.828G= (p.Lys276=) n.168G= c.256G= c.234G= (p.Lys78=) c.248G= c.603G= (p.Lys201=) c.405G= (p.Lys135=) | |
3 | g.120641640C>G | CA354073964 | HGD | c.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 |
3 | g.120641640C>T | CA435227592 | HGD | c.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 |
3 | g.120641641T>A | CA354073965 | HGD | c.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) | |
3 | g.120641641T>C | CA354073966 | HGD | c.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 |
3 | g.120641641T>G | CA354073967 | HGD | c.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) | |
3 | g.120641642T>A | CA354073968 | HGD | c.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) | |
3 | g.120641642T>C | CA354073970 | HGD | c.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) | |
3 | g.120641642T>G | CA354073969 | HGD | c.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) | |
3 | g.120641643G>A | CA2560053 | HGD | c.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 |
3 | g.120641643G>C | CA354073971 | HGD | c.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) | |
3 | g.120641643G= | CA1397094526 | HGD | c.825C= (p.Tyr275=) n.165C= c.253C= c.231C= (p.Tyr77=) c.245C= c.600C= (p.Tyr200=) c.402C= (p.Tyr134=) | |
3 | g.120641643G>T | CA354073972 | HGD | c.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) | |
3 | g.120641644del | CA2580068599 | HGD | c.824del (p.Tyr275SerfsTer5) n.164del c.252del c.230del (p.Tyr77SerfsTer5) c.244del c.599del (p.Tyr200SerfsTer5) c.401del (p.Tyr134SerfsTer5) | ClinVar |
3 | g.120641644T>A | CA354073973 | HGD | c.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 |
3 | g.120641644T>C | CA2560054 | HGD | c.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 |
3 | g.120641644T>G | CA354073974 | HGD | c.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) | |
3 | g.120641644T= | CA1397094527 | HGD | c.824A= (p.Tyr275=) n.164A= c.252A= c.230A= (p.Tyr77=) c.244A= c.599A= (p.Tyr200=) c.401A= (p.Tyr134=) | |
3 | g.120641645A>C | CA354073975 | HGD | c.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) | |
3 | g.120641645A>G | CA354073976 | HGD | c.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) | |
3 | g.120641645A>T | CA354073977 | HGD | c.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) | |
3 | g.120641646G>A | CA2560055 | HGD | c.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 |
3 | g.120641646G>C | CA435227593 | HGD | c.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=) | |
3 | g.120641646G= | CA1397094528 | HGD | c.822C= (p.Pro274=) n.162C= c.250C= c.228C= (p.Pro76=) c.242C= c.597C= (p.Pro199=) c.399C= (p.Pro133=) | |
3 | g.120641646G>T | CA435227594 | HGD | c.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=) | |
3 | g.120641647G>A | CA354073978 | HGD | c.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 |
3 | g.120641647G>C | CA354073979 | HGD | c.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) | |
3 | g.120641647G= | CA1397094529 | HGD | c.821C= (p.Pro274=) n.161C= c.249C= c.227C= (p.Pro76=) c.241C= c.596C= (p.Pro199=) c.398C= (p.Pro133=) | |
3 | g.120641647G>T | CA354073980 | HGD | c.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) | |
3 | g.120641648G>A | CA354073982 | HGD | c.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 |
3 | g.120641648G>C | CA354073981 | HGD | c.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) | |
3 | g.120641648G= | CA1397094530 | HGD | c.820C= (p.Pro274=) n.160C= c.248C= c.226C= (p.Pro76=) c.240C= c.595C= (p.Pro199=) c.397C= (p.Pro133=) | |
3 | g.120641648G>T | CA81783975 | HGD | c.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 |
3 | g.120641650_120641651dup | CA914821893 | HGD | c.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 |
3 | g.120641649T>A | CA435227595 | HGD | c.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=) | |
3 | g.120641649T>C | CA435227596 | HGD | c.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 |
3 | g.120641649T>G | CA435227597 | HGD | c.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=) | |
3 | g.120641650G>A | CA354073983 | HGD | c.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 |
3 | g.120641650G>C | CA354073984 | HGD | c.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) | |
3 | g.120641650G>T | CA354073985 | HGD | c.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 |
3 | g.120641651T>A | CA354073986 | HGD | c.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) | |
3 | g.120641651T>C | CA354073987 | HGD | c.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) | |
3 | g.120641651T>G | CA354073988 | HGD | c.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) | |
3 | g.120641652A= | CA1397094531 | HGD | c.816T= (p.Tyr272=) n.156T= c.244T= c.222T= (p.Tyr74=) c.236T= c.591T= (p.Tyr197=) c.393T= (p.Tyr131=) | |
3 | g.120641652A>C | CA354073989 | HGD | c.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) | |
3 | g.120641652A>G | CA81783979 | HGD | c.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 |
3 | g.120641652A>T | CA354073990 | HGD | c.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) | |
3 | g.120641653T>A | CA354073991 | HGD | c.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 |
3 | g.120641653T>C | CA354073992 | HGD | c.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 |
3 | g.120641653T>G | CA354073993 | HGD | c.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) | |
3 | g.120641654A>C | CA354073994 | HGD | c.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 |
3 | g.120641654A>G | CA354073996 | HGD | c.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) | |
3 | g.120641654A>T | CA354073995 | HGD | c.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) | |
3 | g.120641655A>C | CA354073997 | HGD | c.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) | |
3 | g.120641655A>G | CA435227598 | HGD | c.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=) | |
3 | g.120641655A>T | CA354073998 | HGD | c.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) | |
3 | g.120641656T>A | CA354073999 | HGD | c.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 |
3 | g.120641656T>C | CA354074000 | HGD | c.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) | |
3 | g.120641656T>G | CA354074001 | HGD | c.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) | |
3 | g.120641657T>A | CA354074004 | HGD | c.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) | |
3 | g.120641657T>C | CA354074003 | HGD | c.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) | |
3 | g.120641657T>G | CA354074002 | HGD | c.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) | |
3 | g.120641658C>A | CA435227599 | HGD | c.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=) | |
3 | g.120641658C= | CA1397094532 | HGD | c.810G= (p.Gly270=) n.150G= c.238G= c.216G= (p.Gly72=) c.230G= c.585G= (p.Gly195=) c.387G= (p.Gly129=) | |
3 | g.120641658C>G | CA435227600 | HGD | c.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=) | |
3 | g.120641658C>T | CA435227601 | HGD | c.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 |
3 | g.120641659C>A | CA354074005 | HGD | c.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 |
3 | g.120641659C= | CA1397094533 | HGD | c.809G= (p.Gly270=) n.149G= c.237G= c.215G= (p.Gly72=) c.229G= c.584G= (p.Gly195=) c.386G= (p.Gly129=) | |
3 | g.120641659C>G | CA354074006 | HGD | c.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) | |
3 | g.120641659C>T | CA81783982 | HGD | c.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 |
3 | g.120641660C>A | CA81783990 | HGD | c.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 |
3 | g.120641660C= | CA1397094534 | HGD | c.808G= (p.Gly270=) n.148G= c.236G= c.214G= (p.Gly72=) c.228G= c.583G= (p.Gly195=) c.385G= (p.Gly129=) | |
3 | g.120641660C>G | CA354074007 | HGD | c.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) | |
3 | g.120641660C>T | CA340049 | HGD | c.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 |
3 | g.120641661G>A | CA2560056 | HGD | c.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 |
3 | g.120641661G>C | CA354074008 | HGD | c.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) | |
3 | g.120641661G= | CA1397094535 | HGD | c.807C= (p.His269=) n.147C= c.235C= c.213C= (p.His71=) c.227C= c.582C= (p.His194=) c.384C= (p.His128=) | |
3 | g.120641661G>T | CA354074009 | HGD | c.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 |
3 | g.120641662T>A | CA354074010 | HGD | c.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) | |
3 | g.120641662T>C | CA2560057 | HGD | c.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 |
3 | g.120641662T>G | CA354074011 | HGD | c.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) | |
3 | g.120641662T= | CA1397094536 | HGD | c.806A= (p.His269=) n.146A= c.234A= c.212A= (p.His71=) c.226A= c.581A= (p.His194=) c.383A= (p.His128=) | |
3 | g.120641663G>A | CA2560058 | HGD | c.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 |
3 | g.120641663G>C | CA354074012 | HGD | c.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) | |
3 | g.120641663G= | CA1397094537 | HGD | c.805C= (p.His269=) n.145C= c.233C= c.211C= (p.His71=) c.225C= c.580C= (p.His194=) c.382C= (p.His128=) | |
3 | g.120641663G>T | CA354074013 | HGD | c.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) | |
3 | g.120641667_120641671del | CA2667171261 | HGD | c.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 |
3 | g.120641664C>A | CA354074014 | HGD | c.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) | |
3 | g.120641664C>G | CA354074015 | HGD | c.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 |
3 | g.120641664C>T | CA354074016 | HGD | c.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) | |
3 | g.120641665C>A | CA354074017 | HGD | c.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) | |
3 | g.120641665C= | CA1397094538 | HGD | c.803G= (p.Trp268=) n.143G= c.231G= c.209G= (p.Trp70=) c.223G= c.578G= (p.Trp193=) c.380G= (p.Trp127=) | |
3 | g.120641665C>G | CA354074018 | HGD | c.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 |
3 | g.120641665C>T | CA354074019 | HGD | c.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 |
3 | g.120641666A= | CA1397094539 | HGD | c.802T= (p.Trp268=) n.142T= c.230T= c.208T= (p.Trp70=) c.222T= c.577T= (p.Trp193=) c.379T= (p.Trp127=) | |
3 | g.120641666A>C | CA354074020 | HGD | c.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) | |
3 | g.120641666A>G | CA354074022 | HGD | c.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 |
3 | g.120641666A>T | CA354074021 | HGD | c.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) | |
3 | g.120641667G>A | CA435227603 | HGD | c.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=) | |
3 | g.120641667G>C | CA435227604 | HGD | c.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=) | |
3 | g.120641667G>T | CA435227605 | HGD | c.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=) | |
3 | g.120641668G>A | CA354074023 | HGD | c.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 |
3 | g.120641668G>C | CA354074024 | HGD | c.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) | |
3 | g.120641668G>T | CA354074025 | HGD | c.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 |
3 | g.120641669C>A | CA354074026 | HGD | c.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) | |
3 | g.120641669C>G | CA354074027 | HGD | c.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) | |
3 | g.120641669C>T | CA354074028 | HGD | c.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 |
3 | g.120641670C>A | CA435227606 | HGD | c.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 |
3 | g.120641670C= | CA1397094540 | HGD | c.798G= (p.Val266=) n.138G= c.226G= c.204G= (p.Val68=) c.218G= c.573G= (p.Val191=) c.375G= (p.Val125=) | |
3 | g.120641670C>G | CA435227607 | HGD | c.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=) | |
3 | g.120641670C>T | CA2560059 | HGD | c.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 |
3 | g.120641671A>C | CA354074029 | HGD | c.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) | |
3 | g.120641671A>G | CA354074030 | HGD | c.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) | |
3 | g.120641671A>T | CA354074031 | HGD | c.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) | |
3 | g.120641672C>A | CA354074032 | HGD | c.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) | |
3 | g.120641672C>G | CA354074033 | HGD | c.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) | |
3 | g.120641672C>T | CA354074034 | HGD | c.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) | |
3 | g.120641673A= | CA1397094541 | HGD | c.795T= (p.Val265=) n.135T= c.223T= c.201T= (p.Val67=) c.215T= c.570T= (p.Val190=) c.372T= (p.Val124=) | |
3 | g.120641673A>C | CA435227608 | HGD | c.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 |
3 | g.120641673A>G | CA435227609 | HGD | c.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=) | |
3 | g.120641673A>T | CA435227610 | HGD | c.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=) | |
3 | g.120641674A= | CA1397094542 | HGD | c.794T= (p.Val265=) n.134T= c.222T= c.200T= (p.Val67=) c.214T= c.569T= (p.Val190=) c.371T= (p.Val124=) | |
3 | g.120641674A>C | CA354074035 | HGD | c.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) | |
3 | g.120641674A>G | CA2560060 | HGD | c.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 |
3 | g.120641674A>T | CA354074036 | HGD | c.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) | |
3 | g.120641675C>A | CA354074037 | HGD | c.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) | |
3 | g.120641675C= | CA1397094543 | HGD | c.793G= (p.Val265=) n.133G= c.221G= c.199G= (p.Val67=) c.213G= c.568G= (p.Val190=) c.370G= (p.Val124=) | |
3 | g.120641675C>G | CA354074038 | HGD | c.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) | |
3 | g.120641675C>T | CA2560061 | HGD | c.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 |
3 | g.120641676A>C | CA354074039 | HGD | c.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) | |
3 | g.120641676A>G | CA435227611 | HGD | c.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 |
3 | g.120641676A>T | CA354074040 | HGD | c.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 |
3 | g.120641677T>A | CA354074041 | HGD | c.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) | |
3 | g.120641677T>C | CA354074042 | HGD | c.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 |
3 | g.120641677T>G | CA354074043 | HGD | c.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) | |
3 | g.120641677T= | CA1397094544 | HGD | c.791A= (p.Asn264=) n.131A= c.219A= c.197A= (p.Asn66=) c.211A= c.566A= (p.Asn189=) c.368A= (p.Asn123=) | |
3 | g.120641678T>A | CA354074044 | HGD | c.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) | |
3 | g.120641678T>C | CA354074045 | HGD | c.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) | |
3 | g.120641678T>G | CA354074046 | HGD | c.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) | |
3 | g.120641679G>A | CA435227612 | HGD | c.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=) | |
3 | g.120641679G>C | CA354074047 | HGD | c.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) | |
3 | g.120641679G>T | CA354074048 | HGD | c.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) | |
3 | g.120641680A>C | CA354074049 | HGD | c.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) | |
3 | g.120641680A>G | CA354074051 | HGD | c.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) | |
3 | g.120641680A>T | CA354074050 | HGD | c.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) | |
3 | g.120641681A>C | CA354074052 | HGD | c.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) | |
3 | g.120641681A>G | CA354074054 | HGD | c.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 |
3 | g.120641681A>T | CA354074053 | HGD | c.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) | |
3 | g.120641682del | CA2667171262 | HGD | c.786del (p.Phe263SerfsTer17) n.126del c.214del c.192del (p.Phe65SerfsTer17) c.206del c.561del (p.Phe188SerfsTer17) c.363del (p.Phe122SerfsTer17) | gnomAD v4 |
3 | g.120641682C>A | CA435227613 | HGD | c.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 |
3 | g.120641682C= | CA1397094545 | HGD | c.786G= (p.Pro262=) n.126G= c.214G= c.192G= (p.Pro64=) c.206G= c.561G= (p.Pro187=) c.363G= (p.Pro121=) | |
3 | g.120641682C>G | CA435227614 | HGD | c.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=) | |
3 | g.120641682C>T | CA2560062 | HGD | c.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 |
3 | g.120641683G>A | CA354074056 | HGD | c.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 |
3 | g.120641683G>C | CA354074055 | HGD | c.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) | |
3 | g.120641683G= | CA1397094546 | HGD | c.785C= (p.Pro262=) n.125C= c.213C= c.191C= (p.Pro64=) c.205C= c.560C= (p.Pro187=) c.362C= (p.Pro121=) | |
3 | g.120641683G>T | CA2560063 | HGD | c.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 |
3 | g.120641684G>A | CA354074057 | HGD | c.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 |
3 | g.120641684G>C | CA354074058 | HGD | c.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 |
3 | g.120641684G= | CA1397094547 | HGD | c.784C= (p.Pro262=) n.124C= c.212C= c.190C= (p.Pro64=) c.204C= c.559C= (p.Pro187=) c.361C= (p.Pro121=) | |
3 | g.120641684G>T | CA354074059 | HGD | c.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 |
3 | g.120641685G>A | CA81784055 | HGD | c.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 |
3 | g.120641685G>C | CA435227615 | HGD | c.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=) | |
3 | g.120641685G= | CA1397094548 | HGD | c.783C= (p.Ser261=) n.123C= c.211C= c.189C= (p.Ser63=) c.203C= c.558C= (p.Ser186=) c.360C= (p.Ser120=) | |
3 | g.120641685G>T | CA435227616 | HGD | c.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 |
3 | g.120641686G>A | CA354074060 | HGD | c.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 |
3 | g.120641686G>C | CA354074061 | HGD | c.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) | |
3 | g.120641686G= | CA1397094549 | HGD | c.782C= (p.Ser261=) n.122C= c.210C= c.188C= (p.Ser63=) c.202C= c.557C= (p.Ser186=) c.359C= (p.Ser120=) | |
3 | g.120641686G>T | CA354074062 | HGD | c.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) | |
3 | g.120641687A>C | CA354074063 | HGD | c.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) | |
3 | g.120641687A>G | CA354074064 | HGD | c.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) | |
3 | g.120641687A>T | CA354074065 | HGD | c.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) | |
3 | g.120641687dup | CA16040889 | HGD | c.781dup (p.Ser261PhefsTer?) n.121dup c.209dup c.187dup (p.Ser63PhefsTer?) c.201dup c.556dup (p.Ser186PhefsTer?) c.358dup (p.Ser120PhefsTer?) | ClinVar dbSNP |
3 | g.120641687_120641690delinsAGAC | CA1397094550 | HGD | c.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=) | |
3 | g.120641688G>A | CA435227617 | HGD | c.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 |
3 | g.120641688G>C | CA435227618 | HGD | c.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=) | |
3 | g.120641688G>T | CA435227619 | HGD | c.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=) | |
3 | g.120641688_120641690del | CA897954430 | HGD | c.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 |
3 | g.120641689A>C | CA354074066 | HGD | c.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) | |
3 | g.120641689A>G | CA354074067 | HGD | c.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) | |
3 | g.120641689A>T | CA354074068 | HGD | c.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) | |
3 | g.120641690C>A | CA354074071 | HGD | c.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) | |
3 | g.120641690C>G | CA354074069 | HGD | c.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) | |
3 | g.120641690C>T | CA354074070 | HGD | c.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 |
3 | g.120641691A>C | CA354074072 | HGD | c.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) | |
3 | g.120641691A>G | CA435227620 | HGD | c.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=) | |
3 | g.120641691A>T | CA354074073 | HGD | c.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) | |
3 | g.120641692T>A | CA354074074 | HGD | c.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) | |
3 | g.120641692T>C | CA354074075 | HGD | c.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) | |
3 | g.120641692T>G | CA354074076 | HGD | c.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) | |
3 | g.120641692T= | CA1397094551 | HGD | c.776A= (p.Asp259=) n.116A= c.204A= c.182A= (p.Asp61=) c.196A= c.551A= (p.Asp184=) c.353A= (p.Asp118=) | |
3 | g.120641692_120641693insGTTCAGG | CA1052820621 | HGD | c.775_776insCCTGAAC (p.Asp259AlafsTer2) n.115_116insCCTGAAC c.203_204insCCTGAAC c.181_182insCCTGAAC (p.Asp61AlafsTer2) c.195_196insCCTGAAC c.550_551insCCTGAAC (p.Asp184AlafsTer2) c.352_353insCCTGAAC (p.Asp118AlafsTer2) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.120641693C>A | CA354074077 | HGD | c.775G>T (p.Asp259Tyr) n.115G>T c.203G>T c.181G>T (p.Asp61Tyr) c.195G>T c.550G>T (p.Asp184Tyr) c.352G>T (p.Asp118Tyr) | gnomAD v4 |
3 | g.120641693C>G | CA354074078 | HGD | c.775G>C (p.Asp259His) n.115G>C c.203G>C c.181G>C (p.Asp61His) c.195G>C c.550G>C (p.Asp184His) c.352G>C (p.Asp118His) | |
3 | g.120641693C>T | CA354074079 | HGD | c.775G>A (p.Asp259Asn) n.115G>A c.203G>A c.181G>A (p.Asp61Asn) c.195G>A c.550G>A (p.Asp184Asn) c.352G>A (p.Asp118Asn) | gnomAD v4 |
3 | g.120641694C>A | CA354074080 | HGD | c.775-1G>T (n.775-1G>T) n.114G>T c.203-1G>T c.181-1G>T (n.181-1G>T) c.195-1G>T c.550-1G>T (n.550-1G>T) c.352-1G>T (n.352-1G>T) | |
3 | g.120641694C>G | CA354074081 | HGD | c.775-1G>C (n.775-1G>C) n.114G>C c.203-1G>C c.181-1G>C (n.181-1G>C) c.195-1G>C c.550-1G>C (n.550-1G>C) c.352-1G>C (n.352-1G>C) | COSMIC |
3 | g.120641694C>T | CA354074082 | HGD | c.775-1G>A (n.775-1G>A) n.114G>A c.203-1G>A c.181-1G>A (n.181-1G>A) c.195-1G>A c.550-1G>A (n.550-1G>A) c.352-1G>A (n.352-1G>A) | ClinVar dbSNP |
3 | g.120641695T>A | CA2560064 | HGD | c.775-2A>T (n.775-2A>T) n.113A>T c.203-2A>T c.181-2A>T (n.181-2A>T) c.195-2A>T c.550-2A>T (n.550-2A>T) c.352-2A>T (n.352-2A>T) | dbSNP ExAC |
3 | g.120641695T>C | CA81784059 | HGD | c.775-2A>G (n.775-2A>G) n.113A>G c.203-2A>G c.181-2A>G (n.181-2A>G) c.195-2A>G c.550-2A>G (n.550-2A>G) c.352-2A>G (n.352-2A>G) | dbSNP gnomAD v4 |
3 | g.120641695T>G | CA354074083 | HGD | c.775-2A>C (n.775-2A>C) n.113A>C c.203-2A>C c.181-2A>C (n.181-2A>C) c.195-2A>C c.550-2A>C (n.550-2A>C) c.352-2A>C (n.352-2A>C) | |
3 | g.120641695T= | CA1397094552 | HGD | c.775-2A= (n.775-2A=) n.113A= c.203-2A= c.181-2A= (n.181-2A=) c.195-2A= c.550-2A= (n.550-2A=) c.352-2A= (n.352-2A=) |