Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.110061460A>C | CA341581871 | ALX3,STRIP1 | c.698T>G (p.Leu233Arg) c.269T>G (p.Leu90Arg) n.4213+6658A>C | |
1 | g.110061460A>G | CA341581868 | ALX3,STRIP1 | c.698T>C (p.Leu233Pro) c.269T>C (p.Leu90Pro) n.4213+6658A>G | |
1 | g.110061460A>T | CA341581869 | ALX3,STRIP1 | c.698T>A (p.Leu233Gln) c.269T>A (p.Leu90Gln) n.4213+6658A>T | |
1 | g.110061461G>A | CA419396925 | ALX3,STRIP1 | c.697C>T (p.Leu233=) c.268C>T (p.Leu90=) n.4213+6659G>A | |
1 | g.110061461G>C | CA341581873 | ALX3,STRIP1 | c.697C>G (p.Leu233Val) c.268C>G (p.Leu90Val) n.4213+6659G>C | |
1 | g.110061461G>T | CA341581875 | ALX3,STRIP1 | c.697C>A (p.Leu233Met) c.268C>A (p.Leu90Met) n.4213+6659G>T | |
1 | g.110061462C>A | CA419396926 | ALX3,STRIP1 | c.696G>T (p.Val232=) c.267G>T (p.Val89=) n.4213+6660C>A | |
1 | g.110061462C= | CA1149037145 | ALX3,STRIP1 | c.696G= (p.Val232=) c.267G= (p.Val89=) n.4213+6660C= | |
1 | g.110061462C>G | CA997525 | ALX3,STRIP1 | c.696G>C (p.Val232=) c.267G>C (p.Val89=) n.4213+6660C>G | dbSNP ExAC |
1 | g.110061462C>T | CA997526 | ALX3,STRIP1 | c.696G>A (p.Val232=) c.267G>A (p.Val89=) n.4213+6660C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.110061463A>C | CA341581879 | ALX3,STRIP1 | c.695T>G (p.Val232Gly) c.266T>G (p.Val89Gly) n.4213+6661A>C | |
1 | g.110061463A>G | CA341581881 | ALX3,STRIP1 | c.695T>C (p.Val232Ala) c.266T>C (p.Val89Ala) n.4213+6661A>G | |
1 | g.110061463A>T | CA341581883 | ALX3,STRIP1 | c.695T>A (p.Val232Glu) c.266T>A (p.Val89Glu) n.4213+6661A>T | |
1 | g.110061464C>A | CA341581885 | ALX3,STRIP1 | c.694G>T (p.Val232Leu) c.265G>T (p.Val89Leu) n.4213+6662C>A | |
1 | g.110061464C= | CA1188347337 | ALX3,STRIP1 | c.694G= (p.Val232=) c.265G= (p.Val89=) n.4213+6662C= | |
1 | g.110061464C>G | CA341581886 | ALX3,STRIP1 | c.694G>C (p.Val232Leu) c.265G>C (p.Val89Leu) n.4213+6662C>G | gnomAD v4 |
1 | g.110061464C>T | CA997527 | ALX3,STRIP1 | c.694G>A (p.Val232Met) c.265G>A (p.Val89Met) n.4213+6662C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.110061465A>C | CA419396927 | ALX3,STRIP1 | c.693T>G (p.Ser231=) c.264T>G (p.Ser88=) n.4213+6663A>C | |
1 | g.110061465A>G | CA419396928 | ALX3,STRIP1 | c.693T>C (p.Ser231=) c.264T>C (p.Ser88=) n.4213+6663A>G | gnomAD v4 |
1 | g.110061465A>T | CA419396929 | ALX3,STRIP1 | c.693T>A (p.Ser231=) c.264T>A (p.Ser88=) n.4213+6663A>T | |
1 | g.110061466G>A | CA341581892 | ALX3,STRIP1 | c.692C>T (p.Ser231Phe) c.263C>T (p.Ser88Phe) n.4213+6664G>A | |
1 | g.110061466G>C | CA341581891 | ALX3,STRIP1 | c.692C>G (p.Ser231Cys) c.263C>G (p.Ser88Cys) n.4213+6664G>C | |
1 | g.110061466G>T | CA341581889 | ALX3,STRIP1 | c.692C>A (p.Ser231Tyr) c.263C>A (p.Ser88Tyr) n.4213+6664G>T | |
1 | g.110061467A>C | CA341581895 | ALX3,STRIP1 | c.691T>G (p.Ser231Ala) c.262T>G (p.Ser88Ala) n.4213+6665A>C | |
1 | g.110061467A>G | CA341581896 | ALX3,STRIP1 | c.691T>C (p.Ser231Pro) c.262T>C (p.Ser88Pro) n.4213+6665A>G | |
1 | g.110061467A>T | CA341581897 | ALX3,STRIP1 | c.691T>A (p.Ser231Thr) c.262T>A (p.Ser88Thr) n.4213+6665A>T | |
1 | g.110061468G>A | CA419396930 | ALX3,STRIP1 | c.690C>T (p.Ile230=) c.261C>T (p.Ile87=) n.4213+6666G>A | |
1 | g.110061468G>C | CA341581900 | ALX3,STRIP1 | c.690C>G (p.Ile230Met) c.261C>G (p.Ile87Met) n.4213+6666G>C | dbSNP |
1 | g.110061468G= | CA1188347338 | ALX3,STRIP1 | c.690C= (p.Ile230=) c.261C= (p.Ile87=) n.4213+6666G= | |
1 | g.110061468G>T | CA419396931 | ALX3,STRIP1 | c.690C>A (p.Ile230=) c.261C>A (p.Ile87=) n.4213+6666G>T | |
1 | g.110061469A= | CA1143375352 | ALX3,STRIP1 | c.689T= (p.Ile230=) c.260T= (p.Ile87=) n.4213+6667A= | |
1 | g.110061469A>C | CA997528 | ALX3,STRIP1 | c.689T>G (p.Ile230Ser) c.260T>G (p.Ile87Ser) n.4213+6667A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061469A>G | CA341581903 | ALX3,STRIP1 | c.689T>C (p.Ile230Thr) c.260T>C (p.Ile87Thr) n.4213+6667A>G | |
1 | g.110061469A>T | CA341581905 | ALX3,STRIP1 | c.689T>A (p.Ile230Asn) c.260T>A (p.Ile87Asn) n.4213+6667A>T | |
1 | g.110061470T>A | CA341581907 | ALX3,STRIP1 | c.688A>T (p.Ile230Phe) c.259A>T (p.Ile87Phe) n.4213+6668T>A | |
1 | g.110061470T>C | CA341581908 | ALX3,STRIP1 | c.688A>G (p.Ile230Val) c.259A>G (p.Ile87Val) n.4213+6668T>C | |
1 | g.110061470T>G | CA341581910 | ALX3,STRIP1 | c.688A>C (p.Ile230Leu) c.259A>C (p.Ile87Leu) n.4213+6668T>G | |
1 | g.110061471G>A | CA419396932 | ALX3,STRIP1 | c.687C>T (p.Asp229=) c.258C>T (p.Asp86=) n.4213+6669G>A | |
1 | g.110061471G>C | CA341581913 | ALX3,STRIP1 | c.687C>G (p.Asp229Glu) c.258C>G (p.Asp86Glu) n.4213+6669G>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.110061471G= | CA1188347339 | ALX3,STRIP1 | c.687C= (p.Asp229=) c.258C= (p.Asp86=) n.4213+6669G= | |
1 | g.110061471G>T | CA341581914 | ALX3,STRIP1 | c.687C>A (p.Asp229Glu) c.258C>A (p.Asp86Glu) n.4213+6669G>T | |
1 | g.110061472T>A | CA341581917 | ALX3,STRIP1 | c.686A>T (p.Asp229Val) c.257A>T (p.Asp86Val) n.4213+6670T>A | |
1 | g.110061472T>C | CA997529 | ALX3,STRIP1 | c.686A>G (p.Asp229Gly) c.257A>G (p.Asp86Gly) n.4213+6670T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.110061472T>G | CA341581919 | ALX3,STRIP1 | c.686A>C (p.Asp229Ala) c.257A>C (p.Asp86Ala) n.4213+6670T>G | |
1 | g.110061472T= | CA1188347340 | ALX3,STRIP1 | c.686A= (p.Asp229=) c.257A= (p.Asp86=) n.4213+6670T= | |
1 | g.110061473C>A | CA341581924 | ALX3,STRIP1 | c.685G>T (p.Asp229Tyr) c.256G>T (p.Asp86Tyr) n.4213+6671C>A | |
1 | g.110061473C>G | CA341581927 | ALX3,STRIP1 | c.685G>C (p.Asp229His) c.256G>C (p.Asp86His) n.4213+6671C>G | |
1 | g.110061473C>T | CA341581925 | ALX3,STRIP1 | c.685G>A (p.Asp229Asn) c.256G>A (p.Asp86Asn) n.4213+6671C>T | gnomAD v4 |
1 | g.110061474A= | CA1188347341 | ALX3,STRIP1 | c.684T= (p.Tyr228=) c.255T= (p.Tyr85=) n.4213+6672A= | |
1 | g.110061474A>C | CA341581930 | ALX3,STRIP1 | c.684T>G (p.Tyr228Ter) c.255T>G (p.Tyr85Ter) n.4213+6672A>C | |
1 | g.110061474A>G | CA997530 | ALX3,STRIP1 | c.684T>C (p.Tyr228=) c.255T>C (p.Tyr85=) n.4213+6672A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.110061474A>T | CA341581931 | ALX3,STRIP1 | c.684T>A (p.Tyr228Ter) c.255T>A (p.Tyr85Ter) n.4213+6672A>T | |
1 | g.110061475T>A | CA341581938 | ALX3,STRIP1 | c.683A>T (p.Tyr228Phe) c.254A>T (p.Tyr85Phe) n.4213+6673T>A | |
1 | g.110061475T>C | CA997531 | ALX3,STRIP1 | c.683A>G (p.Tyr228Cys) c.254A>G (p.Tyr85Cys) n.4213+6673T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061475T>G | CA341581940 | ALX3,STRIP1 | c.683A>C (p.Tyr228Ser) c.254A>C (p.Tyr85Ser) n.4213+6673T>G | |
1 | g.110061475T= | CA1148251451 | ALX3,STRIP1 | c.683A= (p.Tyr228=) c.254A= (p.Tyr85=) n.4213+6673T= | |
1 | g.110061476A= | CA1188347342 | ALX3,STRIP1 | c.682T= (p.Tyr228=) c.253T= (p.Tyr85=) n.4213+6674A= | |
1 | g.110061476A>C | CA341581943 | ALX3,STRIP1 | c.682T>G (p.Tyr228Asp) c.253T>G (p.Tyr85Asp) n.4213+6674A>C | |
1 | g.110061476A>G | CA341581945 | ALX3,STRIP1 | c.682T>C (p.Tyr228His) c.253T>C (p.Tyr85His) n.4213+6674A>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.110061476A>T | CA997532 | ALX3,STRIP1 | c.682T>A (p.Tyr228Asn) c.253T>A (p.Tyr85Asn) n.4213+6674A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.110061478_110061481del | CA2647015530 | ALX3,STRIP1 | c.679_682del (p.Ala227MetfsTer?) c.250_253del (p.Ala84MetfsTer?) n.4213+6676_4213+6679del | gnomAD v4 |
1 | g.110061477G>A | CA419396935 | ALX3,STRIP1 | c.681C>T (p.Ala227=) c.252C>T (p.Ala84=) n.4213+6675G>A | |
1 | g.110061477G>C | CA419396934 | ALX3,STRIP1 | c.681C>G (p.Ala227=) c.252C>G (p.Ala84=) n.4213+6675G>C | |
1 | g.110061477G>T | CA419396933 | ALX3,STRIP1 | c.681C>A (p.Ala227=) c.252C>A (p.Ala84=) n.4213+6675G>T | |
1 | g.110061478G>A | CA997533 | ALX3,STRIP1 | c.680C>T (p.Ala227Val) c.251C>T (p.Ala84Val) n.4213+6676G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.110061478G>C | CA341581949 | ALX3,STRIP1 | c.680C>G (p.Ala227Gly) c.251C>G (p.Ala84Gly) n.4213+6676G>C | gnomAD v4 |
1 | g.110061478G= | CA1188347343 | ALX3,STRIP1 | c.680C= (p.Ala227=) c.251C= (p.Ala84=) n.4213+6676G= | |
1 | g.110061478G>T | CA341581951 | ALX3,STRIP1 | c.680C>A (p.Ala227Asp) c.251C>A (p.Ala84Asp) n.4213+6676G>T | |
1 | g.110061479C>A | CA341581952 | ALX3,STRIP1 | c.679G>T (p.Ala227Ser) c.250G>T (p.Ala84Ser) n.4213+6677C>A | |
1 | g.110061479C>G | CA341581953 | ALX3,STRIP1 | c.679G>C (p.Ala227Pro) c.250G>C (p.Ala84Pro) n.4213+6677C>G | |
1 | g.110061479C>T | CA341581955 | ALX3,STRIP1 | c.679G>A (p.Ala227Thr) c.250G>A (p.Ala84Thr) n.4213+6677C>T | |
1 | g.110061480A>C | CA419396936 | ALX3,STRIP1 | c.678T>G (p.Ala226=) c.249T>G (p.Ala83=) n.4213+6678A>C | |
1 | g.110061480A>G | CA419396937 | ALX3,STRIP1 | c.678T>C (p.Ala226=) c.249T>C (p.Ala83=) n.4213+6678A>G | |
1 | g.110061480A>T | CA419396938 | ALX3,STRIP1 | c.678T>A (p.Ala226=) c.249T>A (p.Ala83=) n.4213+6678A>T | |
1 | g.110061481G>A | CA997534 | ALX3,STRIP1 | c.677C>T (p.Ala226Val) c.248C>T (p.Ala83Val) n.4213+6679G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.110061481G>C | CA341581958 | ALX3,STRIP1 | c.677C>G (p.Ala226Gly) c.248C>G (p.Ala83Gly) n.4213+6679G>C | |
1 | g.110061481G= | CA1141766614 | ALX3,STRIP1 | c.677C= (p.Ala226=) c.248C= (p.Ala83=) n.4213+6679G= | |
1 | g.110061481G>T | CA341581960 | ALX3,STRIP1 | c.677C>A (p.Ala226Asp) c.248C>A (p.Ala83Asp) n.4213+6679G>T | COSMIC |
1 | g.110061482C>A | CA341581962 | ALX3,STRIP1 | c.676G>T (p.Ala226Ser) c.247G>T (p.Ala83Ser) n.4213+6680C>A | |
1 | g.110061482C= | CA1188347344 | ALX3,STRIP1 | c.676G= (p.Ala226=) c.247G= (p.Ala83=) n.4213+6680C= | |
1 | g.110061482C>G | CA341581966 | ALX3,STRIP1 | c.676G>C (p.Ala226Pro) c.247G>C (p.Ala83Pro) n.4213+6680C>G | dbSNP |
1 | g.110061482C>T | CA341581964 | ALX3,STRIP1 | c.676G>A (p.Ala226Thr) c.247G>A (p.Ala83Thr) n.4213+6680C>T | gnomAD v4 |
1 | g.110061483C>A | CA419396939 | ALX3,STRIP1 | c.675G>T (p.Thr225=) c.246G>T (p.Thr82=) n.4213+6681C>A | |
1 | g.110061483C= | CA1142824697 | ALX3,STRIP1 | c.675G= (p.Thr225=) c.246G= (p.Thr82=) n.4213+6681C= | |
1 | g.110061483C>G | CA419396940 | ALX3,STRIP1 | c.675G>C (p.Thr225=) c.246G>C (p.Thr82=) n.4213+6681C>G | |
1 | g.110061483C>T | CA997535 | ALX3,STRIP1 | c.675G>A (p.Thr225=) c.246G>A (p.Thr82=) n.4213+6681C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061484G>A | CA341581969 | ALX3,STRIP1 | c.674C>T (p.Thr225Met) c.245C>T (p.Thr82Met) n.4213+6682G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.110061484G>C | CA341581971 | ALX3,STRIP1 | c.674C>G (p.Thr225Arg) c.245C>G (p.Thr82Arg) n.4213+6682G>C | |
1 | g.110061484G= | CA1188347345 | ALX3,STRIP1 | c.674C= (p.Thr225=) c.245C= (p.Thr82=) n.4213+6682G= | |
1 | g.110061484G>T | CA341581973 | ALX3,STRIP1 | c.674C>A (p.Thr225Lys) c.245C>A (p.Thr82Lys) n.4213+6682G>T | dbSNP |
1 | g.110061485T>A | CA341581975 | ALX3,STRIP1 | c.673A>T (p.Thr225Ser) c.244A>T (p.Thr82Ser) n.4213+6683T>A | gnomAD v4 |
1 | g.110061485T>C | CA341581976 | ALX3,STRIP1 | c.673A>G (p.Thr225Ala) c.244A>G (p.Thr82Ala) n.4213+6683T>C | |
1 | g.110061485T>G | CA341581978 | ALX3,STRIP1 | c.673A>C (p.Thr225Pro) c.244A>C (p.Thr82Pro) n.4213+6683T>G | dbSNP gnomAD v4 |
1 | g.110061485T= | CA1188347346 | ALX3,STRIP1 | c.673A= (p.Thr225=) c.244A= (p.Thr82=) n.4213+6683T= | |
1 | g.110061486G>A | CA419396941 | ALX3,STRIP1 | c.672C>T (p.Phe224=) c.243C>T (p.Phe81=) n.4213+6684G>A | |
1 | g.110061486G>C | CA341581980 | ALX3,STRIP1 | c.672C>G (p.Phe224Leu) c.243C>G (p.Phe81Leu) n.4213+6684G>C | |
1 | g.110061486G>T | CA341581982 | ALX3,STRIP1 | c.672C>A (p.Phe224Leu) c.243C>A (p.Phe81Leu) n.4213+6684G>T | |
1 | g.110061487A>C | CA341581986 | ALX3,STRIP1 | c.671T>G (p.Phe224Cys) c.242T>G (p.Phe81Cys) n.4213+6685A>C | |
1 | g.110061487A>G | CA341581987 | ALX3,STRIP1 | c.671T>C (p.Phe224Ser) c.242T>C (p.Phe81Ser) n.4213+6685A>G | |
1 | g.110061487A>T | CA341581984 | ALX3,STRIP1 | c.671T>A (p.Phe224Tyr) c.242T>A (p.Phe81Tyr) n.4213+6685A>T | |
1 | g.110061488A>C | CA341581989 | ALX3,STRIP1 | c.670T>G (p.Phe224Val) c.241T>G (p.Phe81Val) n.4213+6686A>C | |
1 | g.110061488A>G | CA341581991 | ALX3,STRIP1 | c.670T>C (p.Phe224Leu) c.241T>C (p.Phe81Leu) n.4213+6686A>G | gnomAD v4 |
1 | g.110061488A>T | CA341581992 | ALX3,STRIP1 | c.670T>A (p.Phe224Ile) c.241T>A (p.Phe81Ile) n.4213+6686A>T | |
1 | g.110061489G>A | CA997536 | ALX3,STRIP1 | c.669C>T (p.Pro223=) c.240C>T (p.Pro80=) n.4213+6687G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.110061489G>C | CA419396942 | ALX3,STRIP1 | c.669C>G (p.Pro223=) c.240C>G (p.Pro80=) n.4213+6687G>C | |
1 | g.110061489G= | CA1188347347 | ALX3,STRIP1 | c.669C= (p.Pro223=) c.240C= (p.Pro80=) n.4213+6687G= | |
1 | g.110061489G>T | CA419396943 | ALX3,STRIP1 | c.669C>A (p.Pro223=) c.240C>A (p.Pro80=) n.4213+6687G>T | COSMIC |
1 | g.110061490G>A | CA341581996 | ALX3,STRIP1 | c.668C>T (p.Pro223Leu) c.239C>T (p.Pro80Leu) n.4213+6688G>A | gnomAD v4 |
1 | g.110061490G>C | CA341581997 | ALX3,STRIP1 | c.668C>G (p.Pro223Arg) c.239C>G (p.Pro80Arg) n.4213+6688G>C | |
1 | g.110061490G>T | CA341581998 | ALX3,STRIP1 | c.668C>A (p.Pro223His) c.239C>A (p.Pro80His) n.4213+6688G>T | |
1 | g.110061491G>A | CA997537 | ALX3,STRIP1 | c.667C>T (p.Pro223Ser) c.238C>T (p.Pro80Ser) n.4213+6689G>A | dbSNP ExAC gnomAD v4 |
1 | g.110061491G>C | CA341582001 | ALX3,STRIP1 | c.667C>G (p.Pro223Ala) c.238C>G (p.Pro80Ala) n.4213+6689G>C | |
1 | g.110061491G= | CA1188347348 | ALX3,STRIP1 | c.667C= (p.Pro223=) c.238C= (p.Pro80=) n.4213+6689G= | |
1 | g.110061491G>T | CA341582002 | ALX3,STRIP1 | c.667C>A (p.Pro223Thr) c.238C>A (p.Pro80Thr) n.4213+6689G>T | |
1 | g.110061492G>A | CA419396944 | ALX3,STRIP1 | c.666C>T (p.Asn222=) c.237C>T (p.Asn79=) n.4213+6690G>A | |
1 | g.110061492G>C | CA341582005 | ALX3,STRIP1 | c.666C>G (p.Asn222Lys) c.237C>G (p.Asn79Lys) n.4213+6690G>C | |
1 | g.110061492G>T | CA341582007 | ALX3,STRIP1 | c.666C>A (p.Asn222Lys) c.237C>A (p.Asn79Lys) n.4213+6690G>T | |
1 | g.110061493T>A | CA997538 | ALX3,STRIP1 | c.665A>T (p.Asn222Ile) c.236A>T (p.Asn79Ile) n.4213+6691T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061493T>C | CA341582009 | ALX3,STRIP1 | c.665A>G (p.Asn222Ser) c.236A>G (p.Asn79Ser) n.4213+6691T>C | |
1 | g.110061493T>G | CA341582011 | ALX3,STRIP1 | c.665A>C (p.Asn222Thr) c.236A>C (p.Asn79Thr) n.4213+6691T>G | dbSNP gnomAD v4 |
1 | g.110061493T= | CA1145086445 | ALX3,STRIP1 | c.665A= (p.Asn222=) c.236A= (p.Asn79=) n.4213+6691T= | |
1 | g.110061494_110061505del | CA2573884752 | ALX3,STRIP1 | c.654_665del (p.Gln218_Asn222delinsHis) c.225_236del (p.Gln75_Asn79delinsHis) n.4213+6692_4213+6703del | |
1 | g.110061494T>A | CA28737169 | ALX3,STRIP1 | c.664A>T (p.Asn222Tyr) c.235A>T (p.Asn79Tyr) n.4213+6692T>A | dbSNP |
1 | g.110061494T>C | CA341582015 | ALX3,STRIP1 | c.664A>G (p.Asn222Asp) c.235A>G (p.Asn79Asp) n.4213+6692T>C | |
1 | g.110061494T>G | CA341582017 | ALX3,STRIP1 | c.664A>C (p.Asn222His) c.235A>C (p.Asn79His) n.4213+6692T>G | |
1 | g.110061494T= | CA1143765375 | ALX3,STRIP1 | c.664A= (p.Asn222=) c.235A= (p.Asn79=) n.4213+6692T= | |
1 | g.110061495C>A | CA419396945 | ALX3,STRIP1 | c.663G>T (p.Arg221=) c.234G>T (p.Arg78=) n.4213+6693C>A | |
1 | g.110061495C= | CA1188347349 | ALX3,STRIP1 | c.663G= (p.Arg221=) c.234G= (p.Arg78=) n.4213+6693C= | |
1 | g.110061495C>G | CA419396946 | ALX3,STRIP1 | c.663G>C (p.Arg221=) c.234G>C (p.Arg78=) n.4213+6693C>G | |
1 | g.110061495C>T | CA997539 | ALX3,STRIP1 | c.663G>A (p.Arg221=) c.234G>A (p.Arg78=) n.4213+6693C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.110061496C>A | CA341582019 | ALX3,STRIP1 | c.662G>T (p.Arg221Leu) c.233G>T (p.Arg78Leu) n.4213+6694C>A | |
1 | g.110061496C= | CA1144064801 | ALX3,STRIP1 | c.662G= (p.Arg221=) c.233G= (p.Arg78=) n.4213+6694C= | |
1 | g.110061496C>G | CA341582022 | ALX3,STRIP1 | c.662G>C (p.Arg221Pro) c.233G>C (p.Arg78Pro) n.4213+6694C>G | |
1 | g.110061496C>T | CA997540 | ALX3,STRIP1 | c.662G>A (p.Arg221Gln) c.233G>A (p.Arg78Gln) n.4213+6694C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061497G>A | CA997541 | ALX3,STRIP1 | c.661C>T (p.Arg221Trp) c.232C>T (p.Arg78Trp) n.4213+6695G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.110061497G>C | CA341582026 | ALX3,STRIP1 | c.661C>G (p.Arg221Gly) c.232C>G (p.Arg78Gly) n.4213+6695G>C | |
1 | g.110061497G= | CA1188347350 | ALX3,STRIP1 | c.661C= (p.Arg221=) c.232C= (p.Arg78=) n.4213+6695G= | |
1 | g.110061497G>T | CA419396947 | ALX3,STRIP1 | c.661C>A (p.Arg221=) c.232C>A (p.Arg78=) n.4213+6695G>T | |
1 | g.110061498C>A | CA419396949 | ALX3,STRIP1 | c.660G>T (p.Gly220=) c.231G>T (p.Gly77=) n.4213+6696C>A | |
1 | g.110061498C>G | CA419396950 | ALX3,STRIP1 | c.660G>C (p.Gly220=) c.231G>C (p.Gly77=) n.4213+6696C>G | |
1 | g.110061498C>T | CA419396948 | ALX3,STRIP1 | c.660G>A (p.Gly220=) c.231G>A (p.Gly77=) n.4213+6696C>T | gnomAD v4 |
1 | g.110061501dup | CA2647015534 | ALX3,STRIP1 | c.660dup (p.Arg221AlafsTer9) c.231dup (p.Arg78AlafsTer9) n.4213+6699dup | gnomAD v4 |
1 | g.110061499C>A | CA341582028 | ALX3,STRIP1 | c.659G>T (p.Gly220Val) c.230G>T (p.Gly77Val) n.4213+6697C>A | |
1 | g.110061499C= | CA1188347351 | ALX3,STRIP1 | c.659G= (p.Gly220=) c.230G= (p.Gly77=) n.4213+6697C= | |
1 | g.110061499C>G | CA341582029 | ALX3,STRIP1 | c.659G>C (p.Gly220Ala) c.230G>C (p.Gly77Ala) n.4213+6697C>G | |
1 | g.110061499C>T | CA341582031 | ALX3,STRIP1 | c.659G>A (p.Gly220Glu) c.230G>A (p.Gly77Glu) n.4213+6697C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.110061500C>A | CA341582036 | ALX3,STRIP1 | c.658G>T (p.Gly220Trp) c.229G>T (p.Gly77Trp) n.4213+6698C>A | gnomAD v4 |
1 | g.110061500C>G | CA341582035 | ALX3,STRIP1 | c.658G>C (p.Gly220Arg) c.229G>C (p.Gly77Arg) n.4213+6698C>G | |
1 | g.110061500C>T | CA341582033 | ALX3,STRIP1 | c.658G>A (p.Gly220Arg) c.229G>A (p.Gly77Arg) n.4213+6698C>T | COSMIC |
1 | g.110061501C>A | CA341582038 | ALX3,STRIP1 | c.657G>T (p.Glu219Asp) c.228G>T (p.Glu76Asp) n.4213+6699C>A | |
1 | g.110061501C>G | CA341582039 | ALX3,STRIP1 | c.657G>C (p.Glu219Asp) c.228G>C (p.Glu76Asp) n.4213+6699C>G | |
1 | g.110061501C>T | CA419396951 | ALX3,STRIP1 | c.657G>A (p.Glu219=) c.228G>A (p.Glu76=) n.4213+6699C>T | |
1 | g.110061502T>A | CA341582041 | ALX3,STRIP1 | c.656A>T (p.Glu219Val) c.227A>T (p.Glu76Val) n.4213+6700T>A | |
1 | g.110061502T>C | CA341582043 | ALX3,STRIP1 | c.656A>G (p.Glu219Gly) c.227A>G (p.Glu76Gly) n.4213+6700T>C | |
1 | g.110061502T>G | CA341582044 | ALX3,STRIP1 | c.656A>C (p.Glu219Ala) c.227A>C (p.Glu76Ala) n.4213+6700T>G | |
1 | g.110061503C>A | CA341582046 | ALX3,STRIP1 | c.655G>T (p.Glu219Ter) c.226G>T (p.Glu76Ter) n.4213+6701C>A | |
1 | g.110061503C= | CA1188347352 | ALX3,STRIP1 | c.655G= (p.Glu219=) c.226G= (p.Glu76=) n.4213+6701C= | |
1 | g.110061503C>G | CA341582048 | ALX3,STRIP1 | c.655G>C (p.Glu219Gln) c.226G>C (p.Glu76Gln) n.4213+6701C>G | dbSNP |
1 | g.110061503C>T | CA341582050 | ALX3,STRIP1 | c.655G>A (p.Glu219Lys) c.226G>A (p.Glu76Lys) n.4213+6701C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.110061504C>A | CA341582052 | ALX3,STRIP1 | c.654G>T (p.Gln218His) c.225G>T (p.Gln75His) n.4213+6702C>A | |
1 | g.110061504C>G | CA341582054 | ALX3,STRIP1 | c.654G>C (p.Gln218His) c.225G>C (p.Gln75His) n.4213+6702C>G | |
1 | g.110061504C>T | CA419396952 | ALX3,STRIP1 | c.654G>A (p.Gln218=) c.225G>A (p.Gln75=) n.4213+6702C>T | |
1 | g.110061505T>A | CA341582056 | ALX3,STRIP1 | c.653A>T (p.Gln218Leu) c.224A>T (p.Gln75Leu) n.4213+6703T>A | |
1 | g.110061505T>C | CA341582057 | ALX3,STRIP1 | c.653A>G (p.Gln218Arg) c.224A>G (p.Gln75Arg) n.4213+6703T>C | |
1 | g.110061505T>G | CA341582059 | ALX3,STRIP1 | c.653A>C (p.Gln218Pro) c.224A>C (p.Gln75Pro) n.4213+6703T>G | |
1 | g.110061506G>A | CA341582065 | ALX3,STRIP1 | c.652C>T (p.Gln218Ter) c.223C>T (p.Gln75Ter) n.4213+6704G>A | |
1 | g.110061506G>C | CA341582063 | ALX3,STRIP1 | c.652C>G (p.Gln218Glu) c.223C>G (p.Gln75Glu) n.4213+6704G>C | |
1 | g.110061506G>T | CA341582062 | ALX3,STRIP1 | c.652C>A (p.Gln218Lys) c.223C>A (p.Gln75Lys) n.4213+6704G>T | |
1 | g.110061507G>A | CA419396953 | ALX3,STRIP1 | c.651C>T (p.Ile217=) c.222C>T (p.Ile74=) n.4213+6705G>A | |
1 | g.110061507G>C | CA341582067 | ALX3,STRIP1 | c.651C>G (p.Ile217Met) c.222C>G (p.Ile74Met) n.4213+6705G>C | |
1 | g.110061507G>T | CA419396954 | ALX3,STRIP1 | c.651C>A (p.Ile217=) c.222C>A (p.Ile74=) n.4213+6705G>T | gnomAD v4 |
1 | g.110061508A>C | CA341582069 | ALX3,STRIP1 | c.650T>G (p.Ile217Ser) c.221T>G (p.Ile74Ser) n.4213+6706A>C | |
1 | g.110061508A>G | CA341582071 | ALX3,STRIP1 | c.650T>C (p.Ile217Thr) c.221T>C (p.Ile74Thr) n.4213+6706A>G | |
1 | g.110061508A>T | CA341582073 | ALX3,STRIP1 | c.650T>A (p.Ile217Asn) c.221T>A (p.Ile74Asn) n.4213+6706A>T | |
1 | g.110061509T>A | CA341582075 | ALX3,STRIP1 | c.649A>T (p.Ile217Phe) c.220A>T (p.Ile74Phe) n.4213+6707T>A | |
1 | g.110061509T>C | CA341582077 | ALX3,STRIP1 | c.649A>G (p.Ile217Val) c.220A>G (p.Ile74Val) n.4213+6707T>C | gnomAD v4 |
1 | g.110061509T>G | CA341582078 | ALX3,STRIP1 | c.649A>C (p.Ile217Leu) c.220A>C (p.Ile74Leu) n.4213+6707T>G | |
1 | g.110061511_110061513del | CA2573884786 | ALX3,STRIP1 | c.647_649del (p.Lys216del) c.218_220del (p.Lys73del) n.4213+6709_4213+6711del | |
1 | g.110061510C>A | CA341582080 | ALX3,STRIP1 | c.648G>T (p.Lys216Asn) c.219G>T (p.Lys73Asn) n.4213+6708C>A | |
1 | g.110061510C>G | CA341582081 | ALX3,STRIP1 | c.648G>C (p.Lys216Asn) c.219G>C (p.Lys73Asn) n.4213+6708C>G | |
1 | g.110061510C>T | CA419396955 | ALX3,STRIP1 | c.648G>A (p.Lys216=) c.219G>A (p.Lys73=) n.4213+6708C>T | |
1 | g.110061511T>A | CA341582082 | ALX3,STRIP1 | c.647A>T (p.Lys216Met) c.218A>T (p.Lys73Met) n.4213+6709T>A | |
1 | g.110061511T>C | CA341582085 | ALX3,STRIP1 | c.647A>G (p.Lys216Arg) c.218A>G (p.Lys73Arg) n.4213+6709T>C | |
1 | g.110061511T>G | CA341582086 | ALX3,STRIP1 | c.647A>C (p.Lys216Thr) c.218A>C (p.Lys73Thr) n.4213+6709T>G | |
1 | g.110061512T>A | CA341582091 | ALX3,STRIP1 | c.646A>T (p.Lys216Ter) c.217A>T (p.Lys73Ter) n.4213+6710T>A | |
1 | g.110061512T>C | CA341582090 | ALX3,STRIP1 | c.646A>G (p.Lys216Glu) c.217A>G (p.Lys73Glu) n.4213+6710T>C | |
1 | g.110061512T>G | CA341582088 | ALX3,STRIP1 | c.646A>C (p.Lys216Gln) c.217A>C (p.Lys73Gln) n.4213+6710T>G | |
1 | g.110061513C>A | CA419396956 | ALX3,STRIP1 | c.645G>T (p.Gly215=) c.216G>T (p.Gly72=) n.4213+6711C>A | gnomAD v4 |
1 | g.110061513C= | CA1188347353 | ALX3,STRIP1 | c.645G= (p.Gly215=) c.216G= (p.Gly72=) n.4213+6711C= | |
1 | g.110061513C>G | CA419396957 | ALX3,STRIP1 | c.645G>C (p.Gly215=) c.216G>C (p.Gly72=) n.4213+6711C>G | gnomAD v4 |
1 | g.110061513C>T | CA419396958 | ALX3,STRIP1 | c.645G>A (p.Gly215=) c.216G>A (p.Gly72=) n.4213+6711C>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.110061514C>A | CA341582093 | ALX3,STRIP1 | c.644G>T (p.Gly215Val) c.215G>T (p.Gly72Val) n.4213+6712C>A | |
1 | g.110061514C= | CA1143503911 | ALX3,STRIP1 | c.644G= (p.Gly215=) c.215G= (p.Gly72=) n.4213+6712C= | |
1 | g.110061514C>G | CA28737200 | ALX3,STRIP1 | c.644G>C (p.Gly215Ala) c.215G>C (p.Gly72Ala) n.4213+6712C>G | dbSNP gnomAD v3 gnomAD v4 |
1 | g.110061514C>T | CA341582096 | ALX3,STRIP1 | c.644G>A (p.Gly215Glu) c.215G>A (p.Gly72Glu) n.4213+6712C>T | gnomAD v4 |
1 | g.110061515C>A | CA341582098 | ALX3,STRIP1 | c.643G>T (p.Gly215Trp) c.214G>T (p.Gly72Trp) n.4213+6713C>A | |
1 | g.110061515C>G | CA341582100 | ALX3,STRIP1 | c.643G>C (p.Gly215Arg) c.214G>C (p.Gly72Arg) n.4213+6713C>G | |
1 | g.110061515C>T | CA341582102 | ALX3,STRIP1 | c.643G>A (p.Gly215Arg) c.214G>A (p.Gly72Arg) n.4213+6713C>T | gnomAD v4 |
1 | g.110061516A= | CA1188347354 | ALX3,STRIP1 | c.642T= (p.Tyr214=) c.213T= (p.Tyr71=) n.4213+6714A= | |
1 | g.110061516A>C | CA341582104 | ALX3,STRIP1 | c.642T>G (p.Tyr214Ter) c.213T>G (p.Tyr71Ter) n.4213+6714A>C | |
1 | g.110061516A>G | CA419396959 | ALX3,STRIP1 | c.642T>C (p.Tyr214=) c.213T>C (p.Tyr71=) n.4213+6714A>G | ClinVar dbSNP gnomAD v4 |
1 | g.110061516A>T | CA341582103 | ALX3,STRIP1 | c.642T>A (p.Tyr214Ter) c.213T>A (p.Tyr71Ter) n.4213+6714A>T | |
1 | g.110061517T>A | CA341582107 | ALX3,STRIP1 | c.641A>T (p.Tyr214Phe) c.212A>T (p.Tyr71Phe) n.4213+6715T>A | |
1 | g.110061517T>C | CA341582109 | ALX3,STRIP1 | c.641A>G (p.Tyr214Cys) c.212A>G (p.Tyr71Cys) n.4213+6715T>C | |
1 | g.110061517T>G | CA341582110 | ALX3,STRIP1 | c.641A>C (p.Tyr214Ser) c.212A>C (p.Tyr71Ser) n.4213+6715T>G | |
1 | g.110061517dup | CA2573884794 | ALX3,STRIP1 | c.641dup (p.Tyr214Ter) c.212dup (p.Tyr71Ter) n.4213+6715dup | |
1 | g.110061518A>C | CA341582114 | ALX3,STRIP1 | c.640T>G (p.Tyr214Asp) c.211T>G (p.Tyr71Asp) n.4213+6716A>C | |
1 | g.110061518A>G | CA341582115 | ALX3,STRIP1 | c.640T>C (p.Tyr214His) c.211T>C (p.Tyr71His) n.4213+6716A>G | |
1 | g.110061518A>T | CA341582118 | ALX3,STRIP1 | c.640T>A (p.Tyr214Asn) c.211T>A (p.Tyr71Asn) n.4213+6716A>T | |
1 | g.110061519A>C | CA419396962 | ALX3,STRIP1 | c.639T>G (p.Arg213=) c.210T>G (p.Arg70=) n.4213+6717A>C | |
1 | g.110061519A>G | CA419396961 | ALX3,STRIP1 | c.639T>C (p.Arg213=) c.210T>C (p.Arg70=) n.4213+6717A>G | |
1 | g.110061519A>T | CA419396960 | ALX3,STRIP1 | c.639T>A (p.Arg213=) c.210T>A (p.Arg70=) n.4213+6717A>T | |
1 | g.110061520C>A | CA341582120 | ALX3,STRIP1 | c.638G>T (p.Arg213Leu) c.209G>T (p.Arg70Leu) n.4213+6718C>A | |
1 | g.110061520C= | CA1142345462 | ALX3,STRIP1 | c.638G= (p.Arg213=) c.209G= (p.Arg70=) n.4213+6718C= | |
1 | g.110061520C>G | CA341582122 | ALX3,STRIP1 | c.638G>C (p.Arg213Pro) c.209G>C (p.Arg70Pro) n.4213+6718C>G | |
1 | g.110061520C>T | CA997542 | ALX3,STRIP1 | c.638G>A (p.Arg213His) c.209G>A (p.Arg70His) n.4213+6718C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.110061521G>A | CA997543 | ALX3,STRIP1 | c.637C>T (p.Arg213Cys) c.208C>T (p.Arg70Cys) n.4213+6719G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.110061521G>C | CA341582124 | ALX3,STRIP1 | c.637C>G (p.Arg213Gly) c.208C>G (p.Arg70Gly) n.4213+6719G>C | |
1 | g.110061521G= | CA1188347355 | ALX3,STRIP1 | c.637C= (p.Arg213=) c.208C= (p.Arg70=) n.4213+6719G= | |
1 | g.110061521G>T | CA341582125 | ALX3,STRIP1 | c.637C>A (p.Arg213Ser) c.208C>A (p.Arg70Ser) n.4213+6719G>T | |
1 | g.110061522C>A | CA341582126 | ALX3,STRIP1 | c.636G>T (p.Glu212Asp) c.207G>T (p.Glu69Asp) n.4213+6720C>A | gnomAD v4 |
1 | g.110061522C= | CA1188347356 | ALX3,STRIP1 | c.636G= (p.Glu212=) c.207G= (p.Glu69=) n.4213+6720C= | |
1 | g.110061522C>G | CA341582128 | ALX3,STRIP1 | c.636G>C (p.Glu212Asp) c.207G>C (p.Glu69Asp) n.4213+6720C>G | |
1 | g.110061522C>T | CA419396963 | ALX3,STRIP1 | c.636G>A (p.Glu212=) c.207G>A (p.Glu69=) n.4213+6720C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061523T>A | CA341582131 | ALX3,STRIP1 | c.635A>T (p.Glu212Val) c.206A>T (p.Glu69Val) n.4213+6721T>A | |
1 | g.110061523T>C | CA341582132 | ALX3,STRIP1 | c.635A>G (p.Glu212Gly) c.206A>G (p.Glu69Gly) n.4213+6721T>C | dbSNP gnomAD v4 |
1 | g.110061523T>G | CA341582134 | ALX3,STRIP1 | c.635A>C (p.Glu212Ala) c.206A>C (p.Glu69Ala) n.4213+6721T>G | |
1 | g.110061523T= | CA1188347357 | ALX3,STRIP1 | c.635A= (p.Glu212=) c.206A= (p.Glu69=) n.4213+6721T= | |
1 | g.110061524C>A | CA341582136 | ALX3,STRIP1 | c.634G>T (p.Glu212Ter) c.205G>T (p.Glu69Ter) n.4213+6722C>A | |
1 | g.110061524C= | CA1188347358 | ALX3,STRIP1 | c.634G= (p.Glu212=) c.205G= (p.Glu69=) n.4213+6722C= | |
1 | g.110061524C>G | CA341582138 | ALX3,STRIP1 | c.634G>C (p.Glu212Gln) c.205G>C (p.Glu69Gln) n.4213+6722C>G | |
1 | g.110061524C>T | CA997544 | ALX3,STRIP1 | c.634G>A (p.Glu212Lys) c.205G>A (p.Glu69Lys) n.4213+6722C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.110061525G>A | CA997545 | ALX3,STRIP1 | c.633C>T (p.Arg211=) c.204C>T (p.Arg68=) n.4213+6723G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061525G>C | CA419396964 | ALX3,STRIP1 | c.633C>G (p.Arg211=) c.204C>G (p.Arg68=) n.4213+6723G>C | |
1 | g.110061525G= | CA1188347359 | ALX3,STRIP1 | c.633C= (p.Arg211=) c.204C= (p.Arg68=) n.4213+6723G= | |
1 | g.110061525G>T | CA419396965 | ALX3,STRIP1 | c.633C>A (p.Arg211=) c.204C>A (p.Arg68=) n.4213+6723G>T | |
1 | g.110061526C>A | CA341582144 | ALX3,STRIP1 | c.632G>T (p.Arg211Leu) c.203G>T (p.Arg68Leu) n.4213+6724C>A | |
1 | g.110061526C= | CA1188347360 | ALX3,STRIP1 | c.632G= (p.Arg211=) c.203G= (p.Arg68=) n.4213+6724C= | |
1 | g.110061526C>G | CA341582142 | ALX3,STRIP1 | c.632G>C (p.Arg211Pro) c.203G>C (p.Arg68Pro) n.4213+6724C>G | |
1 | g.110061526C>T | CA997546 | ALX3,STRIP1 | c.632G>A (p.Arg211His) c.203G>A (p.Arg68His) n.4213+6724C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.110061527G>A | CA997547 | ALX3,STRIP1 | c.631C>T (p.Arg211Cys) c.202C>T (p.Arg68Cys) n.4213+6725G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061527G>C | CA341582146 | ALX3,STRIP1 | c.631C>G (p.Arg211Gly) c.202C>G (p.Arg68Gly) n.4213+6725G>C | |
1 | g.110061527G= | CA1188347361 | ALX3,STRIP1 | c.631C= (p.Arg211=) c.202C= (p.Arg68=) n.4213+6725G= | |
1 | g.110061527G>T | CA997548 | ALX3,STRIP1 | c.631C>A (p.Arg211Ser) c.202C>A (p.Arg68Ser) n.4213+6725G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061528C>A | CA341582149 | ALX3,STRIP1 | c.630G>T (p.Lys210Asn) c.201G>T (p.Lys67Asn) n.4213+6726C>A | |
1 | g.110061528C>G | CA341582151 | ALX3,STRIP1 | c.630G>C (p.Lys210Asn) c.201G>C (p.Lys67Asn) n.4213+6726C>G | |
1 | g.110061528C>T | CA419396966 | ALX3,STRIP1 | c.630G>A (p.Lys210=) c.201G>A (p.Lys67=) n.4213+6726C>T | |
1 | g.110061529T>A | CA341582153 | ALX3,STRIP1 | c.629A>T (p.Lys210Met) c.200A>T (p.Lys67Met) n.4213+6727T>A | |
1 | g.110061529T>C | CA341582155 | ALX3,STRIP1 | c.629A>G (p.Lys210Arg) c.200A>G (p.Lys67Arg) n.4213+6727T>C | dbSNP gnomAD v4 |
1 | g.110061529T>G | CA341582157 | ALX3,STRIP1 | c.629A>C (p.Lys210Thr) c.200A>C (p.Lys67Thr) n.4213+6727T>G | |
1 | g.110061529T= | CA1188347362 | ALX3,STRIP1 | c.629A= (p.Lys210=) c.200A= (p.Lys67=) n.4213+6727T= | |
1 | g.110061530T>A | CA341582159 | ALX3,STRIP1 | c.628A>T (p.Lys210Ter) c.199A>T (p.Lys67Ter) n.4213+6728T>A | |
1 | g.110061530T>C | CA341582161 | ALX3,STRIP1 | c.628A>G (p.Lys210Glu) c.199A>G (p.Lys67Glu) n.4213+6728T>C | |
1 | g.110061530T>G | CA341582162 | ALX3,STRIP1 | c.628A>C (p.Lys210Gln) c.199A>C (p.Lys67Gln) n.4213+6728T>G | |
1 | g.110061531C>A | CA419396967 | ALX3,STRIP1 | c.627G>T (p.Arg209=) c.198G>T (p.Arg66=) n.4213+6729C>A | |
1 | g.110061531C= | CA1141364196 | ALX3,STRIP1 | c.627G= (p.Arg209=) c.198G= (p.Arg66=) n.4213+6729C= | |
1 | g.110061531C>G | CA419396968 | ALX3,STRIP1 | c.627G>C (p.Arg209=) c.198G>C (p.Arg66=) n.4213+6729C>G | |
1 | g.110061531C>T | CA997549 | ALX3,STRIP1 | c.627G>A (p.Arg209=) c.198G>A (p.Arg66=) n.4213+6729C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061532C>A | CA341582168 | ALX3,STRIP1 | c.626G>T (p.Arg209Leu) c.197G>T (p.Arg66Leu) n.4213+6730C>A | |
1 | g.110061532C= | CA1188347363 | ALX3,STRIP1 | c.626G= (p.Arg209=) c.197G= (p.Arg66=) n.4213+6730C= | |
1 | g.110061532C>G | CA341582166 | ALX3,STRIP1 | c.626G>C (p.Arg209Pro) c.197G>C (p.Arg66Pro) n.4213+6730C>G | |
1 | g.110061532C>T | CA997550 | ALX3,STRIP1 | c.626G>A (p.Arg209Gln) c.197G>A (p.Arg66Gln) n.4213+6730C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061533G>A | CA997551 | ALX3,STRIP1 | c.625C>T (p.Arg209Trp) c.196C>T (p.Arg66Trp) n.4213+6731G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061533G>C | CA341582171 | ALX3,STRIP1 | c.625C>G (p.Arg209Gly) c.196C>G (p.Arg66Gly) n.4213+6731G>C | |
1 | g.110061533G= | CA1149060760 | ALX3,STRIP1 | c.625C= (p.Arg209=) c.196C= (p.Arg66=) n.4213+6731G= | |
1 | g.110061533G>T | CA997552 | ALX3,STRIP1 | c.625C>A (p.Arg209=) c.196C>A (p.Arg66=) n.4213+6731G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061534C>A | CA341582174 | ALX3,STRIP1 | c.624G>T (p.Trp208Cys) c.195G>T (p.Trp65Cys) n.4213+6732C>A | |
1 | g.110061534C>G | CA341582176 | ALX3,STRIP1 | c.624G>C (p.Trp208Cys) c.195G>C (p.Trp65Cys) n.4213+6732C>G | |
1 | g.110061534C>T | CA341582178 | ALX3,STRIP1 | c.624G>A (p.Trp208Ter) c.195G>A (p.Trp65Ter) n.4213+6732C>T | gnomAD v4 |
1 | g.110061535C>A | CA341582181 | ALX3,STRIP1 | c.623G>T (p.Trp208Leu) c.194G>T (p.Trp65Leu) n.4213+6733C>A | |
1 | g.110061535C>G | CA341582182 | ALX3,STRIP1 | c.623G>C (p.Trp208Ser) c.194G>C (p.Trp65Ser) n.4213+6733C>G | |
1 | g.110061535C>T | CA341582183 | ALX3,STRIP1 | c.623G>A (p.Trp208Ter) c.194G>A (p.Trp65Ter) n.4213+6733C>T | |
1 | g.110061536A>C | CA341582185 | ALX3,STRIP1 | c.622T>G (p.Trp208Gly) c.193T>G (p.Trp65Gly) n.4213+6734A>C | |
1 | g.110061536A>G | CA341582187 | ALX3,STRIP1 | c.622T>C (p.Trp208Arg) c.193T>C (p.Trp65Arg) n.4213+6734A>G | |
1 | g.110061536A>T | CA341582189 | ALX3,STRIP1 | c.622T>A (p.Trp208Arg) c.193T>A (p.Trp65Arg) n.4213+6734A>T | |
1 | g.110061537C>A | CA341582191 | ALX3,STRIP1 | c.621G>T (p.Lys207Asn) c.192G>T (p.Lys64Asn) n.4213+6735C>A | |
1 | g.110061537C>G | CA341582193 | ALX3,STRIP1 | c.621G>C (p.Lys207Asn) c.192G>C (p.Lys64Asn) n.4213+6735C>G | |
1 | g.110061537C>T | CA419396969 | ALX3,STRIP1 | c.621G>A (p.Lys207=) c.192G>A (p.Lys64=) n.4213+6735C>T | gnomAD v4 |
1 | g.110061538T>A | CA341582196 | ALX3,STRIP1 | c.620A>T (p.Lys207Met) c.191A>T (p.Lys64Met) n.4213+6736T>A | |
1 | g.110061538T>C | CA997553 | ALX3,STRIP1 | c.620A>G (p.Lys207Arg) c.191A>G (p.Lys64Arg) n.4213+6736T>C | dbSNP ExAC gnomAD v2 |
1 | g.110061538T>G | CA341582195 | ALX3,STRIP1 | c.620A>C (p.Lys207Thr) c.191A>C (p.Lys64Thr) n.4213+6736T>G | |
1 | g.110061538T= | CA1188347364 | ALX3,STRIP1 | c.620A= (p.Lys207=) c.191A= (p.Lys64=) n.4213+6736T= | |
1 | g.110061539T>A | CA341582199 | ALX3,STRIP1 | c.619A>T (p.Lys207Ter) c.190A>T (p.Lys64Ter) n.4213+6737T>A | |
1 | g.110061539T>C | CA341582201 | ALX3,STRIP1 | c.619A>G (p.Lys207Glu) c.190A>G (p.Lys64Glu) n.4213+6737T>C | |
1 | g.110061539T>G | CA341582203 | ALX3,STRIP1 | c.619A>C (p.Lys207Gln) c.190A>C (p.Lys64Gln) n.4213+6737T>G | |
1 | g.110061540G>A | CA419396970 | ALX3,STRIP1 | c.618C>T (p.Ala206=) c.189C>T (p.Ala63=) n.4213+6738G>A | |
1 | g.110061540G>C | CA419396971 | ALX3,STRIP1 | c.618C>G (p.Ala206=) c.189C>G (p.Ala63=) n.4213+6738G>C | |
1 | g.110061540G>T | CA419396972 | ALX3,STRIP1 | c.618C>A (p.Ala206=) c.189C>A (p.Ala63=) n.4213+6738G>T | |
1 | g.110061541G>A | CA997554 | ALX3,STRIP1 | c.617C>T (p.Ala206Val) c.188C>T (p.Ala63Val) n.4213+6739G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.110061541G>C | CA341582206 | ALX3,STRIP1 | c.617C>G (p.Ala206Gly) c.188C>G (p.Ala63Gly) n.4213+6739G>C | |
1 | g.110061541G= | CA1188347365 | ALX3,STRIP1 | c.617C= (p.Ala206=) c.188C= (p.Ala63=) n.4213+6739G= | |
1 | g.110061541G>T | CA341582208 | ALX3,STRIP1 | c.617C>A (p.Ala206Asp) c.188C>A (p.Ala63Asp) n.4213+6739G>T | |
1 | g.110061542C>A | CA341582210 | ALX3,STRIP1 | c.616G>T (p.Ala206Ser) c.187G>T (p.Ala63Ser) n.4213+6740C>A | |
1 | g.110061542C>G | CA341582211 | ALX3,STRIP1 | c.616G>C (p.Ala206Pro) c.187G>C (p.Ala63Pro) n.4213+6740C>G | |
1 | g.110061542C>T | CA341582213 | ALX3,STRIP1 | c.616G>A (p.Ala206Thr) c.187G>A (p.Ala63Thr) n.4213+6740C>T | |
1 | g.110061543T>A | CA341582215 | ALX3,STRIP1 | c.615A>T (p.Arg205Ser) c.186A>T (p.Arg62Ser) n.4213+6741T>A | |
1 | g.110061543T>C | CA419396973 | ALX3,STRIP1 | c.615A>G (p.Arg205=) c.186A>G (p.Arg62=) n.4213+6741T>C | |
1 | g.110061543T>G | CA341582217 | ALX3,STRIP1 | c.615A>C (p.Arg205Ser) c.186A>C (p.Arg62Ser) n.4213+6741T>G | |
1 | g.110061544C>A | CA341582220 | ALX3,STRIP1 | c.614G>T (p.Arg205Ile) c.185G>T (p.Arg62Ile) n.4213+6742C>A | |
1 | g.110061544C= | CA1139826190 | ALX3,STRIP1 | c.614G= (p.Arg205=) c.185G= (p.Arg62=) n.4213+6742C= | |
1 | g.110061544C>G | CA341582221 | ALX3,STRIP1 | c.614G>C (p.Arg205Thr) c.185G>C (p.Arg62Thr) n.4213+6742C>G | |
1 | g.110061544C>T | CA28737240 | ALX3,STRIP1 | c.614G>A (p.Arg205Lys) c.185G>A (p.Arg62Lys) n.4213+6742C>T | dbSNP |
1 | g.110061545T>A | CA341582224 | ALX3,STRIP1 | c.613A>T (p.Arg205Ter) c.184A>T (p.Arg62Ter) n.4213+6743T>A | |
1 | g.110061545T>C | CA341582225 | ALX3,STRIP1 | c.613A>G (p.Arg205Gly) c.184A>G (p.Arg62Gly) n.4213+6743T>C | |
1 | g.110061545T>G | CA419396974 | ALX3,STRIP1 | c.613A>C (p.Arg205=) c.184A>C (p.Arg62=) n.4213+6743T>G | |
1 | g.110061546G>A | CA419396975 | ALX3,STRIP1 | c.612C>T (p.Arg204=) c.183C>T (p.Arg61=) n.4213+6744G>A | |
1 | g.110061546G>C | CA419396976 | ALX3,STRIP1 | c.612C>G (p.Arg204=) c.183C>G (p.Arg61=) n.4213+6744G>C | |
1 | g.110061546G>T | CA419396977 | ALX3,STRIP1 | c.612C>A (p.Arg204=) c.183C>A (p.Arg61=) n.4213+6744G>T | |
1 | g.110061547C>A | CA341582226 | ALX3,STRIP1 | c.611G>T (p.Arg204Leu) c.182G>T (p.Arg61Leu) n.4213+6745C>A | |
1 | g.110061547C= | CA1144008460 | ALX3,STRIP1 | c.611G= (p.Arg204=) c.182G= (p.Arg61=) n.4213+6745C= | |
1 | g.110061547C>G | CA341582228 | ALX3,STRIP1 | c.611G>C (p.Arg204Pro) c.182G>C (p.Arg61Pro) n.4213+6745C>G | |
1 | g.110061547C>T | CA997555 | ALX3,STRIP1 | c.611G>A (p.Arg204His) c.182G>A (p.Arg61His) n.4213+6745C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061548G>A | CA341582231 | ALX3,STRIP1 | c.610C>T (p.Arg204Cys) c.181C>T (p.Arg61Cys) n.4213+6746G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.110061548G>C | CA341582232 | ALX3,STRIP1 | c.610C>G (p.Arg204Gly) c.181C>G (p.Arg61Gly) n.4213+6746G>C | gnomAD v4 |
1 | g.110061548G= | CA1188347366 | ALX3,STRIP1 | c.610C= (p.Arg204=) c.181C= (p.Arg61=) n.4213+6746G= | |
1 | g.110061548G>T | CA341582234 | ALX3,STRIP1 | c.610C>A (p.Arg204Ser) c.181C>A (p.Arg61Ser) n.4213+6746G>T | |
1 | g.110061549G>A | CA419396978 | ALX3,STRIP1 | c.609C>T (p.Asn203=) c.180C>T (p.Asn60=) n.4213+6747G>A | |
1 | g.110061549G>C | CA341582236 | ALX3,STRIP1 | c.609C>G (p.Asn203Lys) c.180C>G (p.Asn60Lys) n.4213+6747G>C | |
1 | g.110061549G>T | CA341582238 | ALX3,STRIP1 | c.609C>A (p.Asn203Lys) c.180C>A (p.Asn60Lys) n.4213+6747G>T | |
1 | g.110061550T>A | CA341582240 | ALX3,STRIP1 | c.608A>T (p.Asn203Ile) c.179A>T (p.Asn60Ile) n.4213+6748T>A | |
1 | g.110061550T>C | CA116980 | ALX3,STRIP1 | c.608A>G (p.Asn203Ser) c.179A>G (p.Asn60Ser) n.4213+6748T>C | ClinVar dbSNP |
1 | g.110061550T>G | CA341582243 | ALX3,STRIP1 | c.608A>C (p.Asn203Thr) c.179A>C (p.Asn60Thr) n.4213+6748T>G | |
1 | g.110061550T= | CA1141580969 | ALX3,STRIP1 | c.608A= (p.Asn203=) c.179A= (p.Asn60=) n.4213+6748T= | |
1 | g.110061551T>A | CA341582245 | ALX3,STRIP1 | c.607A>T (p.Asn203Tyr) c.178A>T (p.Asn60Tyr) n.4213+6749T>A | |
1 | g.110061551T>C | CA341582248 | ALX3,STRIP1 | c.607A>G (p.Asn203Asp) c.178A>G (p.Asn60Asp) n.4213+6749T>C | |
1 | g.110061551T>G | CA341582246 | ALX3,STRIP1 | c.607A>C (p.Asn203His) c.178A>C (p.Asn60His) n.4213+6749T>G | |
1 | g.110061552C>A | CA341582251 | ALX3,STRIP1 | c.606G>T (p.Gln202His) c.177G>T (p.Gln59His) n.4213+6750C>A | |
1 | g.110061552C>G | CA341582252 | ALX3,STRIP1 | c.606G>C (p.Gln202His) c.177G>C (p.Gln59His) n.4213+6750C>G | |
1 | g.110061552C>T | CA419396979 | ALX3,STRIP1 | c.606G>A (p.Gln202=) c.177G>A (p.Gln59=) n.4213+6750C>T | |
1 | g.110061553T>A | CA341582254 | ALX3,STRIP1 | c.605A>T (p.Gln202Leu) c.176A>T (p.Gln59Leu) n.4213+6751T>A | |
1 | g.110061553T>C | CA341582256 | ALX3,STRIP1 | c.605A>G (p.Gln202Arg) c.176A>G (p.Gln59Arg) n.4213+6751T>C | |
1 | g.110061553T>G | CA341582258 | ALX3,STRIP1 | c.605A>C (p.Gln202Pro) c.176A>C (p.Gln59Pro) n.4213+6751T>G | |
1 | g.110061554G>A | CA341582260 | ALX3,STRIP1 | c.604C>T (p.Gln202Ter) c.175C>T (p.Gln59Ter) n.4213+6752G>A | |
1 | g.110061554G>C | CA341582262 | ALX3,STRIP1 | c.604C>G (p.Gln202Glu) c.175C>G (p.Gln59Glu) n.4213+6752G>C | |
1 | g.110061554G>T | CA341582263 | ALX3,STRIP1 | c.604C>A (p.Gln202Lys) c.175C>A (p.Gln59Lys) n.4213+6752G>T | |
1 | g.110061555G>A | CA419396980 | ALX3,STRIP1 | c.603C>T (p.Phe201=) c.174C>T (p.Phe58=) n.4213+6753G>A | |
1 | g.110061555G>C | CA341582265 | ALX3,STRIP1 | c.603C>G (p.Phe201Leu) c.174C>G (p.Phe58Leu) n.4213+6753G>C | |
1 | g.110061555G>T | CA341582266 | ALX3,STRIP1 | c.603C>A (p.Phe201Leu) c.174C>A (p.Phe58Leu) n.4213+6753G>T | |
1 | g.110061556A>C | CA341582269 | ALX3,STRIP1 | c.602T>G (p.Phe201Cys) c.173T>G (p.Phe58Cys) n.4213+6754A>C | |
1 | g.110061556A>G | CA341582271 | ALX3,STRIP1 | c.602T>C (p.Phe201Ser) c.173T>C (p.Phe58Ser) n.4213+6754A>G | |
1 | g.110061556A>T | CA341582272 | ALX3,STRIP1 | c.602T>A (p.Phe201Tyr) c.173T>A (p.Phe58Tyr) n.4213+6754A>T | |
1 | g.110061557A>C | CA341582278 | ALX3,STRIP1 | c.601T>G (p.Phe201Val) c.172T>G (p.Phe58Val) n.4213+6755A>C | |
1 | g.110061557A>G | CA341582276 | ALX3,STRIP1 | c.601T>C (p.Phe201Leu) c.172T>C (p.Phe58Leu) n.4213+6755A>G | |
1 | g.110061557A>T | CA341582275 | ALX3,STRIP1 | c.601T>A (p.Phe201Ile) c.172T>A (p.Phe58Ile) n.4213+6755A>T | |
1 | g.110061558C>A | CA341582279 | ALX3,STRIP1 | c.600G>T (p.Trp200Cys) c.171G>T (p.Trp57Cys) n.4213+6756C>A | |
1 | g.110061558C>G | CA341582281 | ALX3,STRIP1 | c.600G>C (p.Trp200Cys) c.171G>C (p.Trp57Cys) n.4213+6756C>G | |
1 | g.110061558C>T | CA341582283 | ALX3,STRIP1 | c.600G>A (p.Trp200Ter) c.171G>A (p.Trp57Ter) n.4213+6756C>T | |
1 | g.110061559C>A | CA341582285 | ALX3,STRIP1 | c.599G>T (p.Trp200Leu) c.170G>T (p.Trp57Leu) n.4213+6757C>A | |
1 | g.110061559C= | CA1188347367 | ALX3,STRIP1 | c.599G= (p.Trp200=) c.170G= (p.Trp57=) n.4213+6757C= | |
1 | g.110061559C>G | CA341582287 | ALX3,STRIP1 | c.599G>C (p.Trp200Ser) c.170G>C (p.Trp57Ser) n.4213+6757C>G | dbSNP |
1 | g.110061559C>T | CA341582288 | ALX3,STRIP1 | c.599G>A (p.Trp200Ter) c.170G>A (p.Trp57Ter) n.4213+6757C>T | |
1 | g.110061560A>C | CA341582289 | ALX3,STRIP1 | c.598T>G (p.Trp200Gly) c.169T>G (p.Trp57Gly) n.4213+6758A>C | |
1 | g.110061560A>G | CA341582290 | ALX3,STRIP1 | c.598T>C (p.Trp200Arg) c.169T>C (p.Trp57Arg) n.4213+6758A>G | |
1 | g.110061560A>T | CA341582292 | ALX3,STRIP1 | c.598T>A (p.Trp200Arg) c.169T>A (p.Trp57Arg) n.4213+6758A>T |