Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.134200803A= | CA1495815095 | PABPC4L | c.217T= (p.Phe73=) c.391T= (p.Phe131=) n.756T= n.751T= | |
4 | g.134200803A>C | CA358375565 | PABPC4L | c.217T>G (p.Phe73Val) c.391T>G (p.Phe131Val) n.756T>G n.751T>G | dbSNP gnomAD v4 |
4 | g.134200803A>G | CA358375566 | PABPC4L | c.217T>C (p.Phe73Leu) c.391T>C (p.Phe131Leu) n.756T>C n.751T>C | |
4 | g.134200803A>T | CA358375567 | PABPC4L | c.217T>A (p.Phe73Ile) c.391T>A (p.Phe131Ile) n.756T>A n.751T>A | |
4 | g.134200804G>A | CA441362076 | PABPC4L | c.216C>T (p.Asn72=) c.390C>T (p.Asn130=) n.755C>T n.750C>T | gnomAD v4 |
4 | g.134200804G>C | CA358375568 | PABPC4L | c.216C>G (p.Asn72Lys) c.390C>G (p.Asn130Lys) n.755C>G n.750C>G | |
4 | g.134200804G= | CA1495815097 | PABPC4L | c.216C= (p.Asn72=) c.390C= (p.Asn130=) n.755C= n.750C= | |
4 | g.134200804G>T | CA106325844 | PABPC4L | c.216C>A (p.Asn72Lys) c.390C>A (p.Asn130Lys) n.755C>A n.750C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200805T>A | CA358375569 | PABPC4L | c.215A>T (p.Asn72Ile) c.389A>T (p.Asn130Ile) n.754A>T n.749A>T | |
4 | g.134200805T>C | CA358375570 | PABPC4L | c.215A>G (p.Asn72Ser) c.389A>G (p.Asn130Ser) n.754A>G n.749A>G | |
4 | g.134200805T>G | CA358375571 | PABPC4L | c.215A>C (p.Asn72Thr) c.389A>C (p.Asn130Thr) n.754A>C n.749A>C | |
4 | g.134200806T>A | CA358375574 | PABPC4L | c.214A>T (p.Asn72Tyr) c.388A>T (p.Asn130Tyr) n.753A>T n.748A>T | |
4 | g.134200806T>C | CA358375572 | PABPC4L | c.214A>G (p.Asn72Asp) c.388A>G (p.Asn130Asp) n.753A>G n.748A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200806T>G | CA358375573 | PABPC4L | c.214A>C (p.Asn72His) c.388A>C (p.Asn130His) n.753A>C n.748A>C | |
4 | g.134200806T= | CA1495815100 | PABPC4L | c.214A= (p.Asn72=) c.388A= (p.Asn130=) n.753A= n.748A= | |
4 | g.134200807C>A | CA358375575 | PABPC4L | c.213G>T (p.Met71Ile) c.387G>T (p.Met129Ile) n.752G>T n.747G>T | gnomAD v4 |
4 | g.134200807C= | CA1495815102 | PABPC4L | c.213G= (p.Met71=) c.387G= (p.Met129=) n.752G= n.747G= | |
4 | g.134200807C>G | CA358375576 | PABPC4L | c.213G>C (p.Met71Ile) c.387G>C (p.Met129Ile) n.752G>C n.747G>C | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200807C>T | CA358375577 | PABPC4L | c.213G>A (p.Met71Ile) c.387G>A (p.Met129Ile) n.752G>A n.747G>A | |
4 | g.134200808A= | CA1495815104 | PABPC4L | c.212T= (p.Met71=) c.386T= (p.Met129=) n.751T= n.746T= | |
4 | g.134200808A>C | CA358375578 | PABPC4L | c.212T>G (p.Met71Arg) c.386T>G (p.Met129Arg) n.751T>G n.746T>G | |
4 | g.134200808A>G | CA358375579 | PABPC4L | c.212T>C (p.Met71Thr) c.386T>C (p.Met129Thr) n.751T>C n.746T>C | gnomAD v4 |
4 | g.134200808A>T | CA358375580 | PABPC4L | c.212T>A (p.Met71Lys) c.386T>A (p.Met129Lys) n.751T>A n.746T>A | dbSNP gnomAD v4 |
4 | g.134200809T>A | CA358375581 | PABPC4L | c.211A>T (p.Met71Leu) c.385A>T (p.Met129Leu) n.750A>T n.745A>T | gnomAD v4 |
4 | g.134200809T>C | CA3081083 | PABPC4L | c.211A>G (p.Met71Val) c.385A>G (p.Met129Val) n.750A>G n.745A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200809T>G | CA358375582 | PABPC4L | c.211A>C (p.Met71Leu) c.385A>C (p.Met129Leu) n.750A>C n.745A>C | |
4 | g.134200809T= | CA1495815107 | PABPC4L | c.211A= (p.Met71=) c.385A= (p.Met129=) n.750A= n.745A= | |
4 | g.134200810T>A | CA441362079 | PABPC4L | c.210A>T (p.Thr70=) c.384A>T (p.Thr128=) n.749A>T n.744A>T | |
4 | g.134200810T>C | CA441362077 | PABPC4L | c.210A>G (p.Thr70=) c.384A>G (p.Thr128=) n.749A>G n.744A>G | |
4 | g.134200810T>G | CA441362078 | PABPC4L | c.210A>C (p.Thr70=) c.384A>C (p.Thr128=) n.749A>C n.744A>C | dbSNP gnomAD v4 |
4 | g.134200810T= | CA1495815109 | PABPC4L | c.210A= (p.Thr70=) c.384A= (p.Thr128=) n.749A= n.744A= | |
4 | g.134200811G>A | CA358375583 | PABPC4L | c.209C>T (p.Thr70Ile) c.383C>T (p.Thr128Ile) n.748C>T n.743C>T | dbSNP |
4 | g.134200811G>C | CA358375584 | PABPC4L | c.209C>G (p.Thr70Arg) c.383C>G (p.Thr128Arg) n.748C>G n.743C>G | |
4 | g.134200811G>T | CA358375585 | PABPC4L | c.209C>A (p.Thr70Lys) c.383C>A (p.Thr128Lys) n.748C>A n.743C>A | |
4 | g.134200812T>A | CA358375586 | PABPC4L | c.208A>T (p.Thr70Ser) c.382A>T (p.Thr128Ser) n.747A>T n.742A>T | |
4 | g.134200812T>C | CA3081085 | PABPC4L | c.208A>G (p.Thr70Ala) c.382A>G (p.Thr128Ala) n.747A>G n.742A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200812T>G | CA3081084 | PABPC4L | c.208A>C (p.Thr70Pro) c.382A>C (p.Thr128Pro) n.747A>C n.742A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.134200812T= | CA1495815111 | PABPC4L | c.208A= (p.Thr70=) c.382A= (p.Thr128=) n.747A= n.742A= | |
4 | g.134200813G>A | CA441362080 | PABPC4L | c.207C>T (p.Asp69=) c.381C>T (p.Asp127=) n.746C>T n.741C>T | |
4 | g.134200813G>C | CA358375587 | PABPC4L | c.207C>G (p.Asp69Glu) c.381C>G (p.Asp127Glu) n.746C>G n.741C>G | |
4 | g.134200813G>T | CA358375588 | PABPC4L | c.207C>A (p.Asp69Glu) c.381C>A (p.Asp127Glu) n.746C>A n.741C>A | gnomAD v4 |
4 | g.134200814T>A | CA358375589 | PABPC4L | c.206A>T (p.Asp69Val) c.380A>T (p.Asp127Val) n.745A>T n.740A>T | |
4 | g.134200814T>C | CA358375590 | PABPC4L | c.206A>G (p.Asp69Gly) c.380A>G (p.Asp127Gly) n.745A>G n.740A>G | |
4 | g.134200814T>G | CA358375591 | PABPC4L | c.206A>C (p.Asp69Ala) c.380A>C (p.Asp127Ala) n.745A>C n.740A>C | |
4 | g.134200815C>A | CA358375592 | PABPC4L | c.205G>T (p.Asp69Tyr) c.379G>T (p.Asp127Tyr) n.744G>T n.739G>T | |
4 | g.134200815C>G | CA358375593 | PABPC4L | c.205G>C (p.Asp69His) c.379G>C (p.Asp127His) n.744G>C n.739G>C | |
4 | g.134200815C>T | CA358375594 | PABPC4L | c.205G>A (p.Asp69Asn) c.379G>A (p.Asp127Asn) n.744G>A n.739G>A | |
4 | g.134200816C>A | CA441362081 | PABPC4L | c.204G>T (p.Leu68=) c.378G>T (p.Leu126=) n.743G>T n.738G>T | |
4 | g.134200816C>G | CA441362082 | PABPC4L | c.204G>C (p.Leu68=) c.378G>C (p.Leu126=) n.743G>C n.738G>C | |
4 | g.134200816C>T | CA441362083 | PABPC4L | c.204G>A (p.Leu68=) c.378G>A (p.Leu126=) n.743G>A n.738G>A | gnomAD v4 |
4 | g.134200817A= | CA1495815114 | PABPC4L | c.203T= (p.Leu68=) c.377T= (p.Leu126=) n.742T= n.737T= | |
4 | g.134200817A>C | CA3081086 | PABPC4L | c.203T>G (p.Leu68Arg) c.377T>G (p.Leu126Arg) n.742T>G n.737T>G | dbSNP ExAC gnomAD v2 |
4 | g.134200817A>G | CA358375595 | PABPC4L | c.203T>C (p.Leu68Pro) c.377T>C (p.Leu126Pro) n.742T>C n.737T>C | |
4 | g.134200817A>T | CA106325850 | PABPC4L | c.203T>A (p.Leu68Gln) c.377T>A (p.Leu126Gln) n.742T>A n.737T>A | dbSNP gnomAD v4 |
4 | g.134200818G>A | CA441362084 | PABPC4L | c.202C>T (p.Leu68=) c.376C>T (p.Leu126=) n.741C>T n.736C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200818G>C | CA358375597 | PABPC4L | c.202C>G (p.Leu68Val) c.376C>G (p.Leu126Val) n.741C>G n.736C>G | |
4 | g.134200818G= | CA1495815119 | PABPC4L | c.202C= (p.Leu68=) c.376C= (p.Leu126=) n.741C= n.736C= | |
4 | g.134200818G>T | CA358375596 | PABPC4L | c.202C>A (p.Leu68Met) c.376C>A (p.Leu126Met) n.741C>A n.736C>A | |
4 | g.134200819C>A | CA106325852 | PABPC4L | c.201G>T (p.Ala67=) c.375G>T (p.Ala125=) n.740G>T n.735G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200819C= | CA1495815123 | PABPC4L | c.201G= (p.Ala67=) c.375G= (p.Ala125=) n.740G= n.735G= | |
4 | g.134200819C>G | CA441362085 | PABPC4L | c.201G>C (p.Ala67=) c.375G>C (p.Ala125=) n.740G>C n.735G>C | |
4 | g.134200819C>T | CA441362086 | PABPC4L | c.201G>A (p.Ala67=) c.375G>A (p.Ala125=) n.740G>A n.735G>A | gnomAD v4 COSMIC COSMIC |
4 | g.134200820G>A | CA358375598 | PABPC4L | c.200C>T (p.Ala67Val) c.374C>T (p.Ala125Val) n.739C>T n.734C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200820G>C | CA358375599 | PABPC4L | c.200C>G (p.Ala67Gly) c.374C>G (p.Ala125Gly) n.739C>G n.734C>G | |
4 | g.134200820G= | CA1495815125 | PABPC4L | c.200C= (p.Ala67=) c.374C= (p.Ala125=) n.739C= n.734C= | |
4 | g.134200820G>T | CA358375600 | PABPC4L | c.200C>A (p.Ala67Glu) c.374C>A (p.Ala125Glu) n.739C>A n.734C>A | |
4 | g.134200821C>A | CA358375601 | PABPC4L | c.199G>T (p.Ala67Ser) c.373G>T (p.Ala125Ser) n.738G>T n.733G>T | |
4 | g.134200821C>G | CA358375602 | PABPC4L | c.199G>C (p.Ala67Pro) c.373G>C (p.Ala125Pro) n.738G>C n.733G>C | |
4 | g.134200821C>T | CA358375603 | PABPC4L | c.199G>A (p.Ala67Thr) c.373G>A (p.Ala125Thr) n.738G>A n.733G>A | gnomAD v4 |
4 | g.134200822C>A | CA358375604 | PABPC4L | c.198G>T (p.Lys66Asn) c.372G>T (p.Lys124Asn) n.737G>T n.732G>T | |
4 | g.134200822C>G | CA358375605 | PABPC4L | c.198G>C (p.Lys66Asn) c.372G>C (p.Lys124Asn) n.737G>C n.732G>C | |
4 | g.134200822C>T | CA441362087 | PABPC4L | c.198G>A (p.Lys66=) c.372G>A (p.Lys124=) n.737G>A n.732G>A | gnomAD v4 |
4 | g.134200823T>A | CA358375606 | PABPC4L | c.197A>T (p.Lys66Met) c.371A>T (p.Lys124Met) n.736A>T n.731A>T | |
4 | g.134200823T>C | CA358375607 | PABPC4L | c.197A>G (p.Lys66Arg) c.371A>G (p.Lys124Arg) n.736A>G n.731A>G | |
4 | g.134200823T>G | CA358375608 | PABPC4L | c.197A>C (p.Lys66Thr) c.371A>C (p.Lys124Thr) n.736A>C n.731A>C | |
4 | g.134200824T>A | CA358375610 | PABPC4L | c.196A>T (p.Lys66Ter) c.370A>T (p.Lys124Ter) n.735A>T n.730A>T | |
4 | g.134200824T>C | CA358375611 | PABPC4L | c.196A>G (p.Lys66Glu) c.370A>G (p.Lys124Glu) n.735A>G n.730A>G | dbSNP |
4 | g.134200824T>G | CA358375609 | PABPC4L | c.196A>C (p.Lys66Gln) c.370A>C (p.Lys124Gln) n.735A>C n.730A>C | dbSNP gnomAD v4 |
4 | g.134200824T= | CA1495815127 | PABPC4L | c.196A= (p.Lys66=) c.370A= (p.Lys124=) n.735A= n.730A= | |
4 | g.134200825C>A | CA358375613 | PABPC4L | c.195G>T (p.Gln65His) c.369G>T (p.Gln123His) n.734G>T n.729G>T | gnomAD v4 |
4 | g.134200825C>G | CA358375612 | PABPC4L | c.195G>C (p.Gln65His) c.369G>C (p.Gln123His) n.734G>C n.729G>C | |
4 | g.134200825C>T | CA441362088 | PABPC4L | c.195G>A (p.Gln65=) c.369G>A (p.Gln123=) n.734G>A n.729G>A | |
4 | g.134200826T>A | CA358375614 | PABPC4L | c.194A>T (p.Gln65Leu) c.368A>T (p.Gln123Leu) n.733A>T n.728A>T | |
4 | g.134200826T>C | CA358375615 | PABPC4L | c.194A>G (p.Gln65Arg) c.368A>G (p.Gln123Arg) n.733A>G n.728A>G | |
4 | g.134200826T>G | CA358375616 | PABPC4L | c.194A>C (p.Gln65Pro) c.368A>C (p.Gln123Pro) n.733A>C n.728A>C | |
4 | g.134200827G>A | CA358375617 | PABPC4L | c.193C>T (p.Gln65Ter) c.367C>T (p.Gln123Ter) n.732C>T n.727C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200827G>C | CA358375618 | PABPC4L | c.193C>G (p.Gln65Glu) c.367C>G (p.Gln123Glu) n.732C>G n.727C>G | |
4 | g.134200827G= | CA1495815128 | PABPC4L | c.193C= (p.Gln65=) c.367C= (p.Gln123=) n.732C= n.727C= | |
4 | g.134200827G>T | CA358375619 | PABPC4L | c.193C>A (p.Gln65Lys) c.367C>A (p.Gln123Lys) n.732C>A n.727C>A | gnomAD v4 |
4 | g.134200828G>A | CA441362089 | PABPC4L | c.192C>T (p.Ala64=) c.366C>T (p.Ala122=) n.731C>T n.726C>T | gnomAD v4 |
4 | g.134200828G>C | CA441362090 | PABPC4L | c.192C>G (p.Ala64=) c.366C>G (p.Ala122=) n.731C>G n.726C>G | |
4 | g.134200828G>T | CA441362091 | PABPC4L | c.192C>A (p.Ala64=) c.366C>A (p.Ala122=) n.731C>A n.726C>A | |
4 | g.134200829G>A | CA358375620 | PABPC4L | c.191C>T (p.Ala64Val) c.365C>T (p.Ala122Val) n.730C>T n.725C>T | gnomAD v4 |
4 | g.134200829G>C | CA358375621 | PABPC4L | c.191C>G (p.Ala64Gly) c.365C>G (p.Ala122Gly) n.730C>G n.725C>G | |
4 | g.134200829G>T | CA358375622 | PABPC4L | c.191C>A (p.Ala64Asp) c.365C>A (p.Ala122Asp) n.730C>A n.725C>A | |
4 | g.134200830C>A | CA358375623 | PABPC4L | c.190G>T (p.Ala64Ser) c.364G>T (p.Ala122Ser) n.729G>T n.724G>T | gnomAD v4 |
4 | g.134200830C>G | CA358375624 | PABPC4L | c.190G>C (p.Ala64Pro) c.364G>C (p.Ala122Pro) n.729G>C n.724G>C | |
4 | g.134200830C>T | CA358375625 | PABPC4L | c.190G>A (p.Ala64Thr) c.364G>A (p.Ala122Thr) n.729G>A n.724G>A | gnomAD v4 |
4 | g.134200831A>C | CA358375626 | PABPC4L | c.189T>G (p.Asp63Glu) c.363T>G (p.Asp121Glu) n.728T>G n.723T>G | |
4 | g.134200831A>G | CA441362092 | PABPC4L | c.189T>C (p.Asp63=) c.363T>C (p.Asp121=) n.728T>C n.723T>C | |
4 | g.134200831A>T | CA358375627 | PABPC4L | c.189T>A (p.Asp63Glu) c.363T>A (p.Asp121Glu) n.728T>A n.723T>A | |
4 | g.134200832T>A | CA358375628 | PABPC4L | c.188A>T (p.Asp63Val) c.362A>T (p.Asp121Val) n.727A>T n.722A>T | |
4 | g.134200832T>C | CA358375629 | PABPC4L | c.188A>G (p.Asp63Gly) c.362A>G (p.Asp121Gly) n.727A>G n.722A>G | dbSNP |
4 | g.134200832T>G | CA358375630 | PABPC4L | c.188A>C (p.Asp63Ala) c.362A>C (p.Asp121Ala) n.727A>C n.722A>C | |
4 | g.134200832T= | CA1495815131 | PABPC4L | c.188A= (p.Asp63=) c.362A= (p.Asp121=) n.727A= n.722A= | |
4 | g.134200833C>A | CA358375631 | PABPC4L | c.187G>T (p.Asp63Tyr) c.361G>T (p.Asp121Tyr) n.726G>T n.721G>T | |
4 | g.134200833C>G | CA358375632 | PABPC4L | c.187G>C (p.Asp63His) c.361G>C (p.Asp121His) n.726G>C n.721G>C | |
4 | g.134200833C>T | CA358375633 | PABPC4L | c.187G>A (p.Asp63Asn) c.361G>A (p.Asp121Asn) n.726G>A n.721G>A | |
4 | g.134200834A>C | CA441362093 | PABPC4L | c.186T>G (p.Ala62=) c.360T>G (p.Ala120=) n.725T>G n.720T>G | |
4 | g.134200834A>G | CA441362094 | PABPC4L | c.186T>C (p.Ala62=) c.360T>C (p.Ala120=) n.725T>C n.720T>C | gnomAD v4 |
4 | g.134200834A>T | CA441362095 | PABPC4L | c.186T>A (p.Ala62=) c.360T>A (p.Ala120=) n.725T>A n.720T>A | |
4 | g.134200835G>A | CA358375634 | PABPC4L | c.185C>T (p.Ala62Val) c.359C>T (p.Ala120Val) n.724C>T n.719C>T | gnomAD v4 |
4 | g.134200835G>C | CA358375635 | PABPC4L | c.185C>G (p.Ala62Gly) c.359C>G (p.Ala120Gly) n.724C>G n.719C>G | |
4 | g.134200835G>T | CA358375636 | PABPC4L | c.185C>A (p.Ala62Asp) c.359C>A (p.Ala120Asp) n.724C>A n.719C>A | gnomAD v4 |
4 | g.134200836C>A | CA358375637 | PABPC4L | c.184G>T (p.Ala62Ser) c.358G>T (p.Ala120Ser) n.723G>T n.718G>T | gnomAD v4 |
4 | g.134200836C= | CA1495815135 | PABPC4L | c.184G= (p.Ala62=) c.358G= (p.Ala120=) n.723G= n.718G= | |
4 | g.134200836C>G | CA358375638 | PABPC4L | c.184G>C (p.Ala62Pro) c.358G>C (p.Ala120Pro) n.723G>C n.718G>C | |
4 | g.134200836C>T | CA3081087 | PABPC4L | c.184G>A (p.Ala62Thr) c.358G>A (p.Ala120Thr) n.723G>A n.718G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200837C>A | CA441362096 | PABPC4L | c.183G>T (p.Leu61=) c.357G>T (p.Leu119=) n.722G>T n.717G>T | gnomAD v4 |
4 | g.134200837C>G | CA441362098 | PABPC4L | c.183G>C (p.Leu61=) c.357G>C (p.Leu119=) n.722G>C n.717G>C | |
4 | g.134200837C>T | CA441362097 | PABPC4L | c.183G>A (p.Leu61=) c.357G>A (p.Leu119=) n.722G>A n.717G>A | gnomAD v4 |
4 | g.134200838A= | CA1495815139 | PABPC4L | c.182T= (p.Leu61=) c.356T= (p.Leu119=) n.721T= n.716T= | |
4 | g.134200838A>C | CA358375640 | PABPC4L | c.182T>G (p.Leu61Arg) c.356T>G (p.Leu119Arg) n.721T>G n.716T>G | |
4 | g.134200838A>G | CA358375641 | PABPC4L | c.182T>C (p.Leu61Pro) c.356T>C (p.Leu119Pro) n.721T>C n.716T>C | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200838A>T | CA358375639 | PABPC4L | c.182T>A (p.Leu61Gln) c.356T>A (p.Leu119Gln) n.721T>A n.716T>A | |
4 | g.134200839G>A | CA441362099 | PABPC4L | c.181C>T (p.Leu61=) c.355C>T (p.Leu119=) n.720C>T n.715C>T | dbSNP gnomAD v2 |
4 | g.134200839G>C | CA358375642 | PABPC4L | c.181C>G (p.Leu61Val) c.355C>G (p.Leu119Val) n.720C>G n.715C>G | |
4 | g.134200839G= | CA1495815142 | PABPC4L | c.181C= (p.Leu61=) c.355C= (p.Leu119=) n.720C= n.715C= | |
4 | g.134200839G>T | CA358375643 | PABPC4L | c.181C>A (p.Leu61Met) c.355C>A (p.Leu119Met) n.720C>A n.715C>A | |
4 | g.134200840C>A | CA358375644 | PABPC4L | c.180G>T (p.Gln60His) c.354G>T (p.Gln118His) n.719G>T n.714G>T | gnomAD v4 |
4 | g.134200840C>G | CA358375645 | PABPC4L | c.180G>C (p.Gln60His) c.354G>C (p.Gln118His) n.719G>C n.714G>C | |
4 | g.134200840C>T | CA441362100 | PABPC4L | c.180G>A (p.Gln60=) c.354G>A (p.Gln118=) n.719G>A n.714G>A | gnomAD v4 |
4 | g.134200841T>A | CA358375646 | PABPC4L | c.179A>T (p.Gln60Leu) c.353A>T (p.Gln118Leu) n.718A>T n.713A>T | gnomAD v4 |
4 | g.134200841T>C | CA358375647 | PABPC4L | c.179A>G (p.Gln60Arg) c.353A>G (p.Gln118Arg) n.718A>G n.713A>G | |
4 | g.134200841T>G | CA358375648 | PABPC4L | c.179A>C (p.Gln60Pro) c.353A>C (p.Gln118Pro) n.718A>C n.713A>C | |
4 | g.134200842G>A | CA358375649 | PABPC4L | c.178C>T (p.Gln60Ter) c.352C>T (p.Gln118Ter) n.717C>T n.712C>T | gnomAD v4 |
4 | g.134200842G>C | CA358375650 | PABPC4L | c.178C>G (p.Gln60Glu) c.352C>G (p.Gln118Glu) n.717C>G n.712C>G | |
4 | g.134200842G>T | CA358375651 | PABPC4L | c.178C>A (p.Gln60Lys) c.352C>A (p.Gln118Lys) n.717C>A n.712C>A | gnomAD v4 |
4 | g.134200843C>A | CA358375652 | PABPC4L | c.177G>T (p.Leu59Phe) c.351G>T (p.Leu117Phe) n.716G>T n.711G>T | gnomAD v4 |
4 | g.134200843C>G | CA358375653 | PABPC4L | c.177G>C (p.Leu59Phe) c.351G>C (p.Leu117Phe) n.716G>C n.711G>C | |
4 | g.134200843C>T | CA441362101 | PABPC4L | c.177G>A (p.Leu59=) c.351G>A (p.Leu117=) n.716G>A n.711G>A | gnomAD v4 |
4 | g.134200844A>C | CA358375655 | PABPC4L | c.176T>G (p.Leu59Trp) c.350T>G (p.Leu117Trp) n.715T>G n.710T>G | |
4 | g.134200844A>G | CA358375656 | PABPC4L | c.176T>C (p.Leu59Ser) c.350T>C (p.Leu117Ser) n.715T>C n.710T>C | gnomAD v4 |
4 | g.134200844A>T | CA358375654 | PABPC4L | c.176T>A (p.Leu59Ter) c.350T>A (p.Leu117Ter) n.715T>A n.710T>A | COSMIC COSMIC |
4 | g.134200847_134200849del | CA2763628677 | PABPC4L | c.174_176del (p.Phe58del) c.348_350del (p.Phe116del) n.713_715del n.708_710del | |
4 | g.134200845A= | CA1495815144 | PABPC4L | c.175T= (p.Leu59=) c.349T= (p.Leu117=) n.714T= n.709T= | |
4 | g.134200845A>C | CA358375657 | PABPC4L | c.175T>G (p.Leu59Val) c.349T>G (p.Leu117Val) n.714T>G n.709T>G | |
4 | g.134200845A>G | CA441362103 | PABPC4L | c.175T>C (p.Leu59=) c.349T>C (p.Leu117=) n.714T>C n.709T>C | dbSNP |
4 | g.134200845A>T | CA358375658 | PABPC4L | c.175T>A (p.Leu59Met) c.349T>A (p.Leu117Met) n.714T>A n.709T>A | gnomAD v4 |
4 | g.134200846G>A | CA441362104 | PABPC4L | c.174C>T (p.Phe58=) c.348C>T (p.Phe116=) n.713C>T n.708C>T | dbSNP gnomAD v2 |
4 | g.134200846G>C | CA358375659 | PABPC4L | c.174C>G (p.Phe58Leu) c.348C>G (p.Phe116Leu) n.713C>G n.708C>G | COSMIC COSMIC |
4 | g.134200846G= | CA1495815148 | PABPC4L | c.174C= (p.Phe58=) c.348C= (p.Phe116=) n.713C= n.708C= | |
4 | g.134200846G>T | CA358375660 | PABPC4L | c.174C>A (p.Phe58Leu) c.348C>A (p.Phe116Leu) n.713C>A n.708C>A | gnomAD v4 |
4 | g.134200847A>C | CA358375661 | PABPC4L | c.173T>G (p.Phe58Cys) c.347T>G (p.Phe116Cys) n.712T>G n.707T>G | |
4 | g.134200847A>G | CA358375662 | PABPC4L | c.173T>C (p.Phe58Ser) c.347T>C (p.Phe116Ser) n.712T>C n.707T>C | gnomAD v4 |
4 | g.134200847A>T | CA358375663 | PABPC4L | c.173T>A (p.Phe58Tyr) c.347T>A (p.Phe116Tyr) n.712T>A n.707T>A | COSMIC COSMIC |
4 | g.134200848A>C | CA358375664 | PABPC4L | c.172T>G (p.Phe58Val) c.346T>G (p.Phe116Val) n.711T>G n.706T>G | |
4 | g.134200848A>G | CA358375666 | PABPC4L | c.172T>C (p.Phe58Leu) c.346T>C (p.Phe116Leu) n.711T>C n.706T>C | |
4 | g.134200848A>T | CA358375665 | PABPC4L | c.172T>A (p.Phe58Ile) c.346T>A (p.Phe116Ile) n.711T>A n.706T>A | |
4 | g.134200849G>A | CA441362105 | PABPC4L | c.171C>T (p.Asn57=) c.345C>T (p.Asn115=) n.710C>T n.705C>T | |
4 | g.134200849G>C | CA358375667 | PABPC4L | c.171C>G (p.Asn57Lys) c.345C>G (p.Asn115Lys) n.710C>G n.705C>G | |
4 | g.134200849G>T | CA358375668 | PABPC4L | c.171C>A (p.Asn57Lys) c.345C>A (p.Asn115Lys) n.710C>A n.705C>A | gnomAD v4 |
4 | g.134200850T>A | CA358375669 | PABPC4L | c.170A>T (p.Asn57Ile) c.344A>T (p.Asn115Ile) n.709A>T n.704A>T | gnomAD v4 |
4 | g.134200850T>C | CA358375670 | PABPC4L | c.170A>G (p.Asn57Ser) c.344A>G (p.Asn115Ser) n.709A>G n.704A>G | gnomAD v4 |
4 | g.134200850T>G | CA358375671 | PABPC4L | c.170A>C (p.Asn57Thr) c.344A>C (p.Asn115Thr) n.709A>C n.704A>C | |
4 | g.134200851T>A | CA358375673 | PABPC4L | c.169A>T (p.Asn57Tyr) c.343A>T (p.Asn115Tyr) n.708A>T n.703A>T | |
4 | g.134200851T>C | CA358375674 | PABPC4L | c.169A>G (p.Asn57Asp) c.343A>G (p.Asn115Asp) n.708A>G n.703A>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200851T>G | CA358375672 | PABPC4L | c.169A>C (p.Asn57His) c.343A>C (p.Asn115His) n.708A>C n.703A>C | |
4 | g.134200851T= | CA1495815151 | PABPC4L | c.169A= (p.Asn57=) c.343A= (p.Asn115=) n.708A= n.703A= | |
4 | g.134200852C>A | CA441362106 | PABPC4L | c.168G>T (p.Val56=) c.342G>T (p.Val114=) n.707G>T n.702G>T | gnomAD v4 COSMIC COSMIC |
4 | g.134200852C>G | CA441362107 | PABPC4L | c.168G>C (p.Val56=) c.342G>C (p.Val114=) n.707G>C n.702G>C | |
4 | g.134200852C>T | CA441362108 | PABPC4L | c.168G>A (p.Val56=) c.342G>A (p.Val114=) n.707G>A n.702G>A | gnomAD v4 |
4 | g.134200853A>C | CA358375676 | PABPC4L | c.167T>G (p.Val56Gly) c.341T>G (p.Val114Gly) n.706T>G n.701T>G | |
4 | g.134200853A>G | CA358375675 | PABPC4L | c.167T>C (p.Val56Ala) c.341T>C (p.Val114Ala) n.706T>C n.701T>C | gnomAD v4 |
4 | g.134200853A>T | CA358375677 | PABPC4L | c.167T>A (p.Val56Glu) c.341T>A (p.Val114Glu) n.706T>A n.701T>A | |
4 | g.134200854C>A | CA358375678 | PABPC4L | c.166G>T (p.Val56Leu) c.340G>T (p.Val114Leu) n.705G>T n.700G>T | gnomAD v4 COSMIC COSMIC |
4 | g.134200854C= | CA1495815156 | PABPC4L | c.166G= (p.Val56=) c.340G= (p.Val114=) n.705G= n.700G= | |
4 | g.134200854C>G | CA358375680 | PABPC4L | c.166G>C (p.Val56Leu) c.340G>C (p.Val114Leu) n.705G>C n.700G>C | gnomAD v4 |
4 | g.134200854C>T | CA358375679 | PABPC4L | c.166G>A (p.Val56Met) c.340G>A (p.Val114Met) n.705G>A n.700G>A | dbSNP gnomAD v4 |
4 | g.134200855G>A | CA441362109 | PABPC4L | c.165C>T (p.Tyr55=) c.339C>T (p.Tyr113=) n.704C>T n.699C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200855G>C | CA358375681 | PABPC4L | c.165C>G (p.Tyr55Ter) c.339C>G (p.Tyr113Ter) n.704C>G n.699C>G | COSMIC COSMIC |
4 | g.134200855G= | CA1495815159 | PABPC4L | c.165C= (p.Tyr55=) c.339C= (p.Tyr113=) n.704C= n.699C= | |
4 | g.134200855G>T | CA358375682 | PABPC4L | c.165C>A (p.Tyr55Ter) c.339C>A (p.Tyr113Ter) n.704C>A n.699C>A | gnomAD v4 |
4 | g.134200856T>A | CA358375683 | PABPC4L | c.164A>T (p.Tyr55Phe) c.338A>T (p.Tyr113Phe) n.703A>T n.698A>T | |
4 | g.134200856T>C | CA358375684 | PABPC4L | c.164A>G (p.Tyr55Cys) c.338A>G (p.Tyr113Cys) n.703A>G n.698A>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200856T>G | CA358375685 | PABPC4L | c.164A>C (p.Tyr55Ser) c.338A>C (p.Tyr113Ser) n.703A>C n.698A>C | |
4 | g.134200856T= | CA1495815162 | PABPC4L | c.164A= (p.Tyr55=) c.338A= (p.Tyr113=) n.703A= n.698A= | |
4 | g.134200857A= | CA1495815167 | PABPC4L | c.163T= (p.Tyr55=) c.337T= (p.Tyr113=) n.702T= n.697T= | |
4 | g.134200857A>C | CA358375686 | PABPC4L | c.163T>G (p.Tyr55Asp) c.337T>G (p.Tyr113Asp) n.702T>G n.697T>G | |
4 | g.134200857A>G | CA358375687 | PABPC4L | c.163T>C (p.Tyr55His) c.337T>C (p.Tyr113His) n.702T>C n.697T>C | dbSNP gnomAD v4 |
4 | g.134200857A>T | CA358375688 | PABPC4L | c.163T>A (p.Tyr55Asn) c.337T>A (p.Tyr113Asn) n.702T>A n.697T>A | |
4 | g.134200858G>A | CA441362110 | PABPC4L | c.162C>T (p.Ala54=) c.336C>T (p.Ala112=) n.701C>T n.696C>T | dbSNP |
4 | g.134200858G>C | CA441362111 | PABPC4L | c.162C>G (p.Ala54=) c.336C>G (p.Ala112=) n.701C>G n.696C>G | |
4 | g.134200858G= | CA1495815168 | PABPC4L | c.162C= (p.Ala54=) c.336C= (p.Ala112=) n.701C= n.696C= | |
4 | g.134200858G>T | CA441362112 | PABPC4L | c.162C>A (p.Ala54=) c.336C>A (p.Ala112=) n.701C>A n.696C>A | gnomAD v4 |
4 | g.134200859G>A | CA358375689 | PABPC4L | c.161C>T (p.Ala54Val) c.335C>T (p.Ala112Val) n.700C>T n.695C>T | dbSNP gnomAD v4 |
4 | g.134200859G>C | CA358375690 | PABPC4L | c.161C>G (p.Ala54Gly) c.335C>G (p.Ala112Gly) n.700C>G n.695C>G | |
4 | g.134200859G= | CA1495815170 | PABPC4L | c.161C= (p.Ala54=) c.335C= (p.Ala112=) n.700C= n.695C= | |
4 | g.134200859G>T | CA358375691 | PABPC4L | c.161C>A (p.Ala54Asp) c.335C>A (p.Ala112Asp) n.700C>A n.695C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200860C>A | CA358375694 | PABPC4L | c.160G>T (p.Ala54Ser) c.334G>T (p.Ala112Ser) n.699G>T n.694G>T | gnomAD v4 |
4 | g.134200860C>G | CA358375693 | PABPC4L | c.160G>C (p.Ala54Pro) c.334G>C (p.Ala112Pro) n.699G>C n.694G>C | |
4 | g.134200860C>T | CA358375692 | PABPC4L | c.160G>A (p.Ala54Thr) c.334G>A (p.Ala112Thr) n.699G>A n.694G>A | gnomAD v4 |
4 | g.134200860_134200868del | CA2578196355 | PABPC4L | c.152_160del (p.Leu51_Ala54delinsPro) c.326_334del (p.Leu109_Ala112delinsPro) n.691_699del n.686_694del | gnomAD v4 |
4 | g.134200861A>C | CA358375695 | PABPC4L | c.159T>G (p.Tyr53Ter) c.333T>G (p.Tyr111Ter) n.698T>G n.693T>G | |
4 | g.134200861A>G | CA441362113 | PABPC4L | c.159T>C (p.Tyr53=) c.333T>C (p.Tyr111=) n.698T>C n.693T>C | |
4 | g.134200861A>T | CA358375696 | PABPC4L | c.159T>A (p.Tyr53Ter) c.333T>A (p.Tyr111Ter) n.698T>A n.693T>A | |
4 | g.134200862T>A | CA358375697 | PABPC4L | c.158A>T (p.Tyr53Phe) c.332A>T (p.Tyr111Phe) n.697A>T n.692A>T | gnomAD v4 |
4 | g.134200862T>C | CA358375698 | PABPC4L | c.158A>G (p.Tyr53Cys) c.332A>G (p.Tyr111Cys) n.697A>G n.692A>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200862T>G | CA358375699 | PABPC4L | c.158A>C (p.Tyr53Ser) c.332A>C (p.Tyr111Ser) n.697A>C n.692A>C | |
4 | g.134200862T= | CA1495815174 | PABPC4L | c.158A= (p.Tyr53=) c.332A= (p.Tyr111=) n.697A= n.692A= | |
4 | g.134200863A>C | CA358375700 | PABPC4L | c.157T>G (p.Tyr53Asp) c.331T>G (p.Tyr111Asp) n.696T>G n.691T>G | |
4 | g.134200863A>G | CA358375701 | PABPC4L | c.157T>C (p.Tyr53His) c.331T>C (p.Tyr111His) n.696T>C n.691T>C | gnomAD v4 |
4 | g.134200863A>T | CA358375702 | PABPC4L | c.157T>A (p.Tyr53Asn) c.331T>A (p.Tyr111Asn) n.696T>A n.691T>A | |
4 | g.134200864G>A | CA441362114 | PABPC4L | c.156C>T (p.Gly52=) c.330C>T (p.Gly110=) n.695C>T n.690C>T | dbSNP gnomAD v4 |
4 | g.134200864G>C | CA441362115 | PABPC4L | c.156C>G (p.Gly52=) c.330C>G (p.Gly110=) n.695C>G n.690C>G | gnomAD v4 |
4 | g.134200864G>T | CA441362116 | PABPC4L | c.156C>A (p.Gly52=) c.330C>A (p.Gly110=) n.695C>A n.690C>A | gnomAD v4 |
4 | g.134200865C>A | CA358375703 | PABPC4L | c.155G>T (p.Gly52Val) c.329G>T (p.Gly110Val) n.694G>T n.689G>T | gnomAD v4 |
4 | g.134200865C= | CA1495815179 | PABPC4L | c.155G= (p.Gly52=) c.329G= (p.Gly110=) n.694G= n.689G= | |
4 | g.134200865C>G | CA358375704 | PABPC4L | c.155G>C (p.Gly52Ala) c.329G>C (p.Gly110Ala) n.694G>C n.689G>C | dbSNP |
4 | g.134200865C>T | CA358375705 | PABPC4L | c.155G>A (p.Gly52Asp) c.329G>A (p.Gly110Asp) n.694G>A n.689G>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200867del | CA2672091057 | PABPC4L | c.155del (p.Gly52AlafsTer5) c.329del (p.Gly110AlafsTer5) n.694del n.689del | gnomAD v4 |
4 | g.134200866C>A | CA358375708 | PABPC4L | c.154G>T (p.Gly52Cys) c.328G>T (p.Gly110Cys) n.693G>T n.688G>T | gnomAD v4 |
4 | g.134200866C>G | CA358375707 | PABPC4L | c.154G>C (p.Gly52Arg) c.328G>C (p.Gly110Arg) n.693G>C n.688G>C | gnomAD v4 |
4 | g.134200866C>T | CA358375706 | PABPC4L | c.154G>A (p.Gly52Ser) c.328G>A (p.Gly110Ser) n.693G>A n.688G>A | |
4 | g.134200867C>A | CA441362117 | PABPC4L | c.153G>T (p.Leu51=) c.327G>T (p.Leu109=) n.692G>T n.687G>T | gnomAD v4 |
4 | g.134200867C= | CA1495815183 | PABPC4L | c.153G= (p.Leu51=) c.327G= (p.Leu109=) n.692G= n.687G= | |
4 | g.134200867C>G | CA441362118 | PABPC4L | c.153G>C (p.Leu51=) c.327G>C (p.Leu109=) n.692G>C n.687G>C | |
4 | g.134200867C>T | CA441362119 | PABPC4L | c.153G>A (p.Leu51=) c.327G>A (p.Leu109=) n.692G>A n.687G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200868A>C | CA358375709 | PABPC4L | c.152T>G (p.Leu51Arg) c.326T>G (p.Leu109Arg) n.691T>G n.686T>G | |
4 | g.134200868A>G | CA358375710 | PABPC4L | c.152T>C (p.Leu51Pro) c.326T>C (p.Leu109Pro) n.691T>C n.686T>C | |
4 | g.134200868A>T | CA358375711 | PABPC4L | c.152T>A (p.Leu51Gln) c.326T>A (p.Leu109Gln) n.691T>A n.686T>A | |
4 | g.134200869G>A | CA441362120 | PABPC4L | c.151C>T (p.Leu51=) c.325C>T (p.Leu109=) n.690C>T n.685C>T | gnomAD v4 |
4 | g.134200869G>C | CA358375712 | PABPC4L | c.151C>G (p.Leu51Val) c.325C>G (p.Leu109Val) n.690C>G n.685C>G | gnomAD v4 |
4 | g.134200869G= | CA1495815186 | PABPC4L | c.151C= (p.Leu51=) c.325C= (p.Leu109=) n.690C= n.685C= | |
4 | g.134200869G>T | CA3081088 | PABPC4L | c.151C>A (p.Leu51Met) c.325C>A (p.Leu109Met) n.690C>A n.685C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.134200870A= | CA1495815187 | PABPC4L | c.150T= (p.Ser50=) c.324T= (p.Ser108=) n.689T= n.684T= | |
4 | g.134200870A>C | CA441362123 | PABPC4L | c.150T>G (p.Ser50=) c.324T>G (p.Ser108=) n.689T>G n.684T>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200870A>G | CA441362121 | PABPC4L | c.150T>C (p.Ser50=) c.324T>C (p.Ser108=) n.689T>C n.684T>C | gnomAD v4 |
4 | g.134200870A>T | CA441362122 | PABPC4L | c.150T>A (p.Ser50=) c.324T>A (p.Ser108=) n.689T>A n.684T>A | |
4 | g.134200871G>A | CA358375713 | PABPC4L | c.149C>T (p.Ser50Phe) c.323C>T (p.Ser108Phe) n.688C>T n.683C>T | |
4 | g.134200871G>C | CA358375714 | PABPC4L | c.149C>G (p.Ser50Cys) c.323C>G (p.Ser108Cys) n.688C>G n.683C>G | |
4 | g.134200871G>T | CA358375715 | PABPC4L | c.149C>A (p.Ser50Tyr) c.323C>A (p.Ser108Tyr) n.688C>A n.683C>A | gnomAD v4 |
4 | g.134200872A>C | CA358375716 | PABPC4L | c.148T>G (p.Ser50Ala) c.322T>G (p.Ser108Ala) n.687T>G n.682T>G | |
4 | g.134200872A>G | CA358375717 | PABPC4L | c.148T>C (p.Ser50Pro) c.322T>C (p.Ser108Pro) n.687T>C n.682T>C | gnomAD v4 |
4 | g.134200872A>T | CA358375718 | PABPC4L | c.148T>A (p.Ser50Thr) c.322T>A (p.Ser108Thr) n.687T>A n.682T>A | |
4 | g.134200873G>A | CA441362124 | PABPC4L | c.147C>T (p.Arg49=) c.321C>T (p.Arg107=) n.686C>T n.681C>T | |
4 | g.134200873G>C | CA441362125 | PABPC4L | c.147C>G (p.Arg49=) c.321C>G (p.Arg107=) n.686C>G n.681C>G | |
4 | g.134200873G>T | CA441362126 | PABPC4L | c.147C>A (p.Arg49=) c.321C>A (p.Arg107=) n.686C>A n.681C>A | gnomAD v4 |
4 | g.134200874C>A | CA3081089 | PABPC4L | c.146G>T (p.Arg49Leu) c.320G>T (p.Arg107Leu) n.685G>T n.680G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.134200874C= | CA1495815191 | PABPC4L | c.146G= (p.Arg49=) c.320G= (p.Arg107=) n.685G= n.680G= | |
4 | g.134200874C>G | CA358375720 | PABPC4L | c.146G>C (p.Arg49Pro) c.320G>C (p.Arg107Pro) n.685G>C n.680G>C | |
4 | g.134200874C>T | CA358375719 | PABPC4L | c.146G>A (p.Arg49His) c.320G>A (p.Arg107His) n.685G>A n.680G>A | gnomAD v4 |
4 | g.134200874_134200875delinsCG | CA1495815194 | PABPC4L | c.145_146delinsCG (p.Arg49=) c.319_320delinsCG (p.Arg107=) n.684_685delinsCG n.679_680delinsCG | |
4 | g.134200875G>A | CA358375721 | PABPC4L | c.145C>T (p.Arg49Cys) c.319C>T (p.Arg107Cys) n.684C>T n.679C>T | dbSNP gnomAD v4 |
4 | g.134200875G>C | CA358375722 | PABPC4L | c.145C>G (p.Arg49Gly) c.319C>G (p.Arg107Gly) n.684C>G n.679C>G | |
4 | g.134200875G= | CA1495815199 | PABPC4L | c.145C= (p.Arg49=) c.319C= (p.Arg107=) n.684C= n.679C= | |
4 | g.134200875G>T | CA358375723 | PABPC4L | c.145C>A (p.Arg49Ser) c.319C>A (p.Arg107Ser) n.684C>A n.679C>A | gnomAD v4 |
4 | g.134200876del | CA787526698 | PABPC4L | c.145del (p.Arg49AlafsTer8) c.319del (p.Arg107AlafsTer8) n.684del n.679del | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200876G>A | CA441362127 | PABPC4L | c.144C>T (p.Arg48=) c.318C>T (p.Arg106=) n.683C>T n.678C>T | gnomAD v4 |
4 | g.134200876G>C | CA441362128 | PABPC4L | c.144C>G (p.Arg48=) c.318C>G (p.Arg106=) n.683C>G n.678C>G | gnomAD v4 |
4 | g.134200876G>T | CA441362129 | PABPC4L | c.144C>A (p.Arg48=) c.318C>A (p.Arg106=) n.683C>A n.678C>A | gnomAD v4 |
4 | g.134200877del | CA2672091058 | PABPC4L | c.143del (p.Arg48ProfsTer9) c.317del (p.Arg106ProfsTer9) n.682del n.677del | gnomAD v4 |
4 | g.134200877C>A | CA358375724 | PABPC4L | c.143G>T (p.Arg48Leu) c.317G>T (p.Arg106Leu) n.682G>T n.677G>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200877C= | CA1495815202 | PABPC4L | c.143G= (p.Arg48=) c.317G= (p.Arg106=) n.682G= n.677G= | |
4 | g.134200877C>G | CA358375725 | PABPC4L | c.143G>C (p.Arg48Pro) c.317G>C (p.Arg106Pro) n.682G>C n.677G>C | |
4 | g.134200877C>T | CA106325859 | PABPC4L | c.143G>A (p.Arg48His) c.317G>A (p.Arg106His) n.682G>A n.677G>A | dbSNP gnomAD v4 |
4 | g.134200878G>A | CA358375726 | PABPC4L | c.142C>T (p.Arg48Cys) c.316C>T (p.Arg106Cys) n.681C>T n.676C>T | gnomAD v4 |
4 | g.134200878G>C | CA358375727 | PABPC4L | c.142C>G (p.Arg48Gly) c.316C>G (p.Arg106Gly) n.681C>G n.676C>G | dbSNP gnomAD v4 |
4 | g.134200878G= | CA1495815207 | PABPC4L | c.142C= (p.Arg48=) c.316C= (p.Arg106=) n.681C= n.676C= | |
4 | g.134200878G>T | CA358375728 | PABPC4L | c.142C>A (p.Arg48Ser) c.316C>A (p.Arg106Ser) n.681C>A n.676C>A | gnomAD v4 |
4 | g.134200880dup | CA106325861 | PABPC4L | c.142dup (p.Arg48ProfsTer16) c.316dup (p.Arg106ProfsTer16) n.681dup n.676dup | dbSNP |
4 | g.134200880del | CA2672091059 | PABPC4L | c.142del (p.Arg48AlafsTer9) c.316del (p.Arg106AlafsTer9) n.681del n.676del | gnomAD v4 |
4 | g.134200878_134200886delinsGGGTGACCT | CA1495815205 | PABPC4L | c.134_142delinsAGGTCACCC (p.Gln45=) c.308_316delinsAGGTCACCC (p.Gln103=) n.673_681delinsAGGTCACCC n.668_676delinsAGGTCACCC | |
4 | g.134200879G>A | CA441362130 | PABPC4L | c.141C>T (p.Thr47=) c.315C>T (p.Thr105=) n.680C>T n.675C>T | gnomAD v4 |
4 | g.134200879G>C | CA441362131 | PABPC4L | c.141C>G (p.Thr47=) c.315C>G (p.Thr105=) n.680C>G n.675C>G | |
4 | g.134200879G>T | CA441362132 | PABPC4L | c.141C>A (p.Thr47=) c.315C>A (p.Thr105=) n.680C>A n.675C>A | gnomAD v4 |
4 | g.134200882_134200889del | CA1495815209 | PABPC4L | c.134_141del (p.Gln45ProfsTer16) c.308_315del (p.Gln103ProfsTer16) n.673_680del n.668_675del | dbSNP |
4 | g.134200880G>A | CA3081090 | PABPC4L | c.140C>T (p.Thr47Ile) c.314C>T (p.Thr105Ile) n.679C>T n.674C>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
4 | g.134200880G>C | CA358375729 | PABPC4L | c.140C>G (p.Thr47Ser) c.314C>G (p.Thr105Ser) n.679C>G n.674C>G | gnomAD v4 |
4 | g.134200880G= | CA1495815211 | PABPC4L | c.140C= (p.Thr47=) c.314C= (p.Thr105=) n.679C= n.674C= | |
4 | g.134200880G>T | CA358375730 | PABPC4L | c.140C>A (p.Thr47Asn) c.314C>A (p.Thr105Asn) n.679C>A n.674C>A | |
4 | g.134200881T>A | CA358375731 | PABPC4L | c.139A>T (p.Thr47Ser) c.313A>T (p.Thr105Ser) n.678A>T n.673A>T | gnomAD v4 |
4 | g.134200881T>C | CA358375732 | PABPC4L | c.139A>G (p.Thr47Ala) c.313A>G (p.Thr105Ala) n.678A>G n.673A>G | gnomAD v4 |
4 | g.134200881T>G | CA3081091 | PABPC4L | c.139A>C (p.Thr47Pro) c.313A>C (p.Thr105Pro) n.678A>C n.673A>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.134200881T= | CA1495815215 | PABPC4L | c.139A= (p.Thr47=) c.313A= (p.Thr105=) n.678A= n.673A= | |
4 | g.134200882G>A | CA441362133 | PABPC4L | c.138C>T (p.Val46=) c.312C>T (p.Val104=) n.677C>T n.672C>T | gnomAD v4 |
4 | g.134200882G>C | CA441362134 | PABPC4L | c.138C>G (p.Val46=) c.312C>G (p.Val104=) n.677C>G n.672C>G | |
4 | g.134200882G>T | CA441362135 | PABPC4L | c.138C>A (p.Val46=) c.312C>A (p.Val104=) n.677C>A n.672C>A | |
4 | g.134200882_134200886delinsGACCT | CA1495815220 | PABPC4L | c.134_138delinsAGGTC (p.Gln45=) c.308_312delinsAGGTC (p.Gln103=) n.673_677delinsAGGTC n.668_672delinsAGGTC | |
4 | g.134200883A= | CA1495815224 | PABPC4L | c.137T= (p.Val46=) c.311T= (p.Val104=) n.676T= n.671T= | |
4 | g.134200883A>C | CA358375735 | PABPC4L | c.137T>G (p.Val46Gly) c.311T>G (p.Val104Gly) n.676T>G n.671T>G | |
4 | g.134200883A>G | CA358375733 | PABPC4L | c.137T>C (p.Val46Ala) c.311T>C (p.Val104Ala) n.676T>C n.671T>C | dbSNP gnomAD v4 |
4 | g.134200883A>T | CA358375734 | PABPC4L | c.137T>A (p.Val46Asp) c.311T>A (p.Val104Asp) n.676T>A n.671T>A | gnomAD v4 |
4 | g.134200883_134200886del | CA555019103 | PABPC4L | c.134_137del (p.Gln45ProfsTer11) c.308_311del (p.Gln103ProfsTer11) n.673_676del n.668_671del | dbSNP gnomAD v2 |
4 | g.134200884C>A | CA358375736 | PABPC4L | c.136G>T (p.Val46Phe) c.310G>T (p.Val104Phe) n.675G>T n.670G>T | |
4 | g.134200884C= | CA1495815227 | PABPC4L | c.136G= (p.Val46=) c.310G= (p.Val104=) n.675G= n.670G= | |
4 | g.134200884C>G | CA358375737 | PABPC4L | c.136G>C (p.Val46Leu) c.310G>C (p.Val104Leu) n.675G>C n.670G>C | gnomAD v4 |
4 | g.134200884C>T | CA358375738 | PABPC4L | c.136G>A (p.Val46Ile) c.310G>A (p.Val104Ile) n.675G>A n.670G>A | dbSNP gnomAD v2 |
4 | g.134200885C>A | CA358375739 | PABPC4L | c.135G>T (p.Gln45His) c.309G>T (p.Gln103His) n.674G>T n.669G>T | |
4 | g.134200885C= | CA1495815229 | PABPC4L | c.135G= (p.Gln45=) c.309G= (p.Gln103=) n.674G= n.669G= | |
4 | g.134200885C>G | CA358375740 | PABPC4L | c.135G>C (p.Gln45His) c.309G>C (p.Gln103His) n.674G>C n.669G>C | |
4 | g.134200885C>T | CA106325865 | PABPC4L | c.135G>A (p.Gln45=) c.309G>A (p.Gln103=) n.674G>A n.669G>A | dbSNP gnomAD v4 |
4 | g.134200886T>A | CA358375741 | PABPC4L | c.134A>T (p.Gln45Leu) c.308A>T (p.Gln103Leu) n.673A>T n.668A>T | |
4 | g.134200886T>C | CA358375742 | PABPC4L | c.134A>G (p.Gln45Arg) c.308A>G (p.Gln103Arg) n.673A>G n.668A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200886T>G | CA358375743 | PABPC4L | c.134A>C (p.Gln45Pro) c.308A>C (p.Gln103Pro) n.673A>C n.668A>C | |
4 | g.134200886T= | CA1495815234 | PABPC4L | c.134A= (p.Gln45=) c.308A= (p.Gln103=) n.673A= n.668A= | |
4 | g.134200887G>A | CA358375744 | PABPC4L | c.133C>T (p.Gln45Ter) c.307C>T (p.Gln103Ter) n.672C>T n.667C>T | gnomAD v4 |
4 | g.134200887G>C | CA358375745 | PABPC4L | c.133C>G (p.Gln45Glu) c.307C>G (p.Gln103Glu) n.672C>G n.667C>G | |
4 | g.134200887G>T | CA358375746 | PABPC4L | c.133C>A (p.Gln45Lys) c.307C>A (p.Gln103Lys) n.672C>A n.667C>A | gnomAD v4 |
4 | g.134200888G>A | CA441362136 | PABPC4L | c.132C>T (p.Asp44=) c.306C>T (p.Asp102=) n.671C>T n.666C>T | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200888G>C | CA358375748 | PABPC4L | c.132C>G (p.Asp44Glu) c.306C>G (p.Asp102Glu) n.671C>G n.666C>G | |
4 | g.134200888G= | CA1495815236 | PABPC4L | c.132C= (p.Asp44=) c.306C= (p.Asp102=) n.671C= n.666C= | |
4 | g.134200888G>T | CA358375747 | PABPC4L | c.132C>A (p.Asp44Glu) c.306C>A (p.Asp102Glu) n.671C>A n.666C>A | COSMIC COSMIC |
4 | g.134200889T>A | CA358375749 | PABPC4L | c.131A>T (p.Asp44Val) c.305A>T (p.Asp102Val) n.670A>T n.665A>T | |
4 | g.134200889T>C | CA358375750 | PABPC4L | c.131A>G (p.Asp44Gly) c.305A>G (p.Asp102Gly) n.670A>G n.665A>G | |
4 | g.134200889T>G | CA358375751 | PABPC4L | c.131A>C (p.Asp44Ala) c.305A>C (p.Asp102Ala) n.670A>C n.665A>C | |
4 | g.134200890C>A | CA358375752 | PABPC4L | c.130G>T (p.Asp44Tyr) c.304G>T (p.Asp102Tyr) n.669G>T n.664G>T | |
4 | g.134200890C= | CA1495815239 | PABPC4L | c.130G= (p.Asp44=) c.304G= (p.Asp102=) n.669G= n.664G= | |
4 | g.134200890C>G | CA358375753 | PABPC4L | c.130G>C (p.Asp44His) c.304G>C (p.Asp102His) n.669G>C n.664G>C | |
4 | g.134200890C>T | CA3081092 | PABPC4L | c.130G>A (p.Asp44Asn) c.304G>A (p.Asp102Asn) n.669G>A n.664G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200891C>A | CA358375754 | PABPC4L | c.129G>T (p.Arg43Ser) c.303G>T (p.Arg101Ser) n.668G>T n.663G>T | |
4 | g.134200891C>G | CA358375755 | PABPC4L | c.129G>C (p.Arg43Ser) c.303G>C (p.Arg101Ser) n.668G>C n.663G>C | |
4 | g.134200891C>T | CA441362137 | PABPC4L | c.129G>A (p.Arg43=) c.303G>A (p.Arg101=) n.668G>A n.663G>A | |
4 | g.134200892C>A | CA358375756 | PABPC4L | c.128G>T (p.Arg43Met) c.302G>T (p.Arg101Met) n.667G>T n.662G>T | |
4 | g.134200892C>G | CA358375757 | PABPC4L | c.128G>C (p.Arg43Thr) c.302G>C (p.Arg101Thr) n.667G>C n.662G>C | |
4 | g.134200892C>T | CA358375758 | PABPC4L | c.128G>A (p.Arg43Lys) c.302G>A (p.Arg101Lys) n.667G>A n.662G>A | gnomAD v4 |
4 | g.134200893T>A | CA358375759 | PABPC4L | c.127A>T (p.Arg43Trp) c.301A>T (p.Arg101Trp) n.666A>T n.661A>T | gnomAD v4 |
4 | g.134200893T>C | CA358375760 | PABPC4L | c.127A>G (p.Arg43Gly) c.301A>G (p.Arg101Gly) n.666A>G n.661A>G | gnomAD v4 |
4 | g.134200893T>G | CA441362138 | PABPC4L | c.127A>C (p.Arg43=) c.301A>C (p.Arg101=) n.666A>C n.661A>C | |
4 | g.134200894G>A | CA441362139 | PABPC4L | c.126C>T (p.Cys42=) c.300C>T (p.Cys100=) n.665C>T n.660C>T | dbSNP gnomAD v4 |
4 | g.134200894G>C | CA358375762 | PABPC4L | c.126C>G (p.Cys42Trp) c.300C>G (p.Cys100Trp) n.665C>G n.660C>G | |
4 | g.134200894G= | CA1495815243 | PABPC4L | c.126C= (p.Cys42=) c.300C= (p.Cys100=) n.665C= n.660C= | |
4 | g.134200894G>T | CA358375761 | PABPC4L | c.126C>A (p.Cys42Ter) c.300C>A (p.Cys100Ter) n.665C>A n.660C>A | |
4 | g.134200895C>A | CA3081093 | PABPC4L | c.125G>T (p.Cys42Phe) c.299G>T (p.Cys100Phe) n.664G>T n.659G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.134200895C= | CA1495815248 | PABPC4L | c.125G= (p.Cys42=) c.299G= (p.Cys100=) n.664G= n.659G= | |
4 | g.134200895C>G | CA358375763 | PABPC4L | c.125G>C (p.Cys42Ser) c.299G>C (p.Cys100Ser) n.664G>C n.659G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.134200895C>T | CA358375764 | PABPC4L | c.125G>A (p.Cys42Tyr) c.299G>A (p.Cys100Tyr) n.664G>A n.659G>A | |
4 | g.134200896A>C | CA358375765 | PABPC4L | c.124T>G (p.Cys42Gly) c.298T>G (p.Cys100Gly) n.663T>G n.658T>G | |
4 | g.134200896A>G | CA358375766 | PABPC4L | c.124T>C (p.Cys42Arg) c.298T>C (p.Cys100Arg) n.663T>C n.658T>C | |
4 | g.134200896A>T | CA358375767 | PABPC4L | c.124T>A (p.Cys42Ser) c.298T>A (p.Cys100Ser) n.663T>A n.658T>A | |
4 | g.134200897A>C | CA358375768 | PABPC4L | c.123T>G (p.Ile41Met) c.297T>G (p.Ile99Met) n.662T>G n.657T>G | |
4 | g.134200897A>G | CA441362141 | PABPC4L | c.123T>C (p.Ile41=) c.297T>C (p.Ile99=) n.662T>C n.657T>C | |
4 | g.134200897A>T | CA441362140 | PABPC4L | c.123T>A (p.Ile41=) c.297T>A (p.Ile99=) n.662T>A n.657T>A | |
4 | g.134200898A= | CA1495815251 | PABPC4L | c.122T= (p.Ile41=) c.296T= (p.Ile99=) n.661T= n.656T= | |
4 | g.134200898A>C | CA358375769 | PABPC4L | c.122T>G (p.Ile41Ser) c.296T>G (p.Ile99Ser) n.661T>G n.656T>G | |
4 | g.134200898A>G | CA106325869 | PABPC4L | c.122T>C (p.Ile41Thr) c.296T>C (p.Ile99Thr) n.661T>C n.656T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200898A>T | CA358375770 | PABPC4L | c.122T>A (p.Ile41Asn) c.296T>A (p.Ile99Asn) n.661T>A n.656T>A | |
4 | g.134200899T>A | CA358375771 | PABPC4L | c.121A>T (p.Ile41Phe) c.295A>T (p.Ile99Phe) n.660A>T n.655A>T | |
4 | g.134200899T>C | CA106325871 | PABPC4L | c.121A>G (p.Ile41Val) c.295A>G (p.Ile99Val) n.660A>G n.655A>G | dbSNP gnomAD v4 |
4 | g.134200899T>G | CA358375772 | PABPC4L | c.121A>C (p.Ile41Leu) c.295A>C (p.Ile99Leu) n.660A>C n.655A>C | |
4 | g.134200899T= | CA1495815255 | PABPC4L | c.121A= (p.Ile41=) c.295A= (p.Ile99=) n.660A= n.655A= | |
4 | g.134200900G>A | CA441362142 | PABPC4L | c.120C>T (p.Arg40=) c.294C>T (p.Arg98=) n.659C>T n.654C>T | gnomAD v4 |
4 | g.134200900G>C | CA441362143 | PABPC4L | c.120C>G (p.Arg40=) c.294C>G (p.Arg98=) n.659C>G n.654C>G | |
4 | g.134200900G>T | CA441362144 | PABPC4L | c.120C>A (p.Arg40=) c.294C>A (p.Arg98=) n.659C>A n.654C>A | |
4 | g.134200901C>A | CA358375774 | PABPC4L | c.119G>T (p.Arg40Leu) c.293G>T (p.Arg98Leu) n.658G>T n.653G>T | |
4 | g.134200901C>G | CA358375775 | PABPC4L | c.119G>C (p.Arg40Pro) c.293G>C (p.Arg98Pro) n.658G>C n.653G>C | |
4 | g.134200901C>T | CA358375773 | PABPC4L | c.119G>A (p.Arg40His) c.293G>A (p.Arg98His) n.658G>A n.653G>A | gnomAD v4 |
4 | g.134200902G>A | CA358375776 | PABPC4L | c.118C>T (p.Arg40Cys) c.292C>T (p.Arg98Cys) n.657C>T n.652C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.134200902G>C | CA358375777 | PABPC4L | c.118C>G (p.Arg40Gly) c.292C>G (p.Arg98Gly) n.657C>G n.652C>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200902G= | CA1495815258 | PABPC4L | c.118C= (p.Arg40=) c.292C= (p.Arg98=) n.657C= n.652C= | |
4 | g.134200902G>T | CA358375778 | PABPC4L | c.118C>A (p.Arg40Ser) c.292C>A (p.Arg98Ser) n.657C>A n.652C>A | dbSNP gnomAD v2 gnomAD v4 |
4 | g.134200903G>A | CA3081094 | PABPC4L | c.117C>T (p.Ile39=) c.291C>T (p.Ile97=) n.656C>T n.651C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.134200903G>C | CA358375779 | PABPC4L | c.117C>G (p.Ile39Met) c.291C>G (p.Ile97Met) n.656C>G n.651C>G | |
4 | g.134200903G= | CA1495815262 | PABPC4L | c.117C= (p.Ile39=) c.291C= (p.Ile97=) n.656C= n.651C= | |
4 | g.134200903G>T | CA441362145 | PABPC4L | c.117C>A (p.Ile39=) c.291C>A (p.Ile97=) n.656C>A n.651C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |