| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.13492487A= | CA1953324076 | PTH | c.266T= (p.Val89=) c.362T= (p.Val121=) | |
| 11 | g.13492487A>C | CA379724487 | PTH | c.266T>G (p.Val89Gly) c.362T>G (p.Val121Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492487A>G | CA379724488 | PTH | c.266T>C (p.Val89Ala) c.362T>C (p.Val121Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492487A>T | CA379724489 | PTH | c.266T>A (p.Val89Asp) c.362T>A (p.Val121Asp) | |
| 11 | g.13492488C>A | CA379724490 | PTH | c.265G>T (p.Val89Phe) c.361G>T (p.Val121Phe) | |
| 11 | g.13492488C= | CA1953324081 | PTH | c.265G= (p.Val89=) c.361G= (p.Val121=) | |
| 11 | g.13492488C>G | CA379724491 | PTH | c.265G>C (p.Val89Leu) c.361G>C (p.Val121Leu) | |
| 11 | g.13492488C>T | CA5893166 | PTH | c.265G>A (p.Val89Ile) c.361G>A (p.Val121Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.13492489A= | CA1953324086 | PTH | c.264T= (p.Asn88=) c.360T= (p.Asn120=) | |
| 11 | g.13492489A>C | CA379724492 | PTH | c.264T>G (p.Asn88Lys) c.360T>G (p.Asn120Lys) | gnomAD v4 |
| 11 | g.13492489A>G | CA473263472 | PTH | c.264T>C (p.Asn88=) c.360T>C (p.Asn120=) | dbSNP |
| 11 | g.13492489A>T | CA379724493 | PTH | c.264T>A (p.Asn88Lys) c.360T>A (p.Asn120Lys) | |
| 11 | g.13492490T>A | CA379724494 | PTH | c.263A>T (p.Asn88Ile) c.359A>T (p.Asn120Ile) | dbSNP |
| 11 | g.13492490T>C | CA379724495 | PTH | c.263A>G (p.Asn88Ser) c.359A>G (p.Asn120Ser) | |
| 11 | g.13492490T>G | CA379724496 | PTH | c.263A>C (p.Asn88Thr) c.359A>C (p.Asn120Thr) | |
| 11 | g.13492490T= | CA1953324089 | PTH | c.263A= (p.Asn88=) c.359A= (p.Asn120=) | |
| 11 | g.13492491T>A | CA379724499 | PTH | c.262A>T (p.Asn88Tyr) c.358A>T (p.Asn120Tyr) | |
| 11 | g.13492491T>C | CA379724498 | PTH | c.262A>G (p.Asn88Asp) c.358A>G (p.Asn120Asp) | |
| 11 | g.13492491T>G | CA379724497 | PTH | c.262A>C (p.Asn88His) c.358A>C (p.Asn120His) | |
| 11 | g.13492492G>A | CA473263473 | PTH | c.261C>T (p.Asp87=) c.357C>T (p.Asp119=) | |
| 11 | g.13492492G>C | CA379724500 | PTH | c.261C>G (p.Asp87Glu) c.357C>G (p.Asp119Glu) | |
| 11 | g.13492492G>T | CA379724501 | PTH | c.261C>A (p.Asp87Glu) c.357C>A (p.Asp119Glu) | |
| 11 | g.13492493T>A | CA379724502 | PTH | c.260A>T (p.Asp87Val) c.356A>T (p.Asp119Val) | |
| 11 | g.13492493T>C | CA379724503 | PTH | c.260A>G (p.Asp87Gly) c.356A>G (p.Asp119Gly) | |
| 11 | g.13492493T>G | CA379724504 | PTH | c.260A>C (p.Asp87Ala) c.356A>C (p.Asp119Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.13492493T= | CA1953324096 | PTH | c.260A= (p.Asp87=) c.356A= (p.Asp119=) | |
| 11 | g.13492494C>A | CA379724505 | PTH | c.259G>T (p.Asp87Tyr) c.355G>T (p.Asp119Tyr) | dbSNP |
| 11 | g.13492494C>G | CA379724506 | PTH | c.259G>C (p.Asp87His) c.355G>C (p.Asp119His) | |
| 11 | g.13492494C>T | CA379724507 | PTH | c.259G>A (p.Asp87Asn) c.355G>A (p.Asp119Asn) | |
| 11 | g.13492495T>A | CA379724508 | PTH | c.258A>T (p.Glu86Asp) c.354A>T (p.Glu118Asp) | |
| 11 | g.13492495T>C | CA473263474 | PTH | c.258A>G (p.Glu86=) c.354A>G (p.Glu118=) | |
| 11 | g.13492495T>G | CA379724509 | PTH | c.258A>C (p.Glu86Asp) c.354A>C (p.Glu118Asp) | |
| 11 | g.13492496T>A | CA379724510 | PTH | c.257A>T (p.Glu86Val) c.353A>T (p.Glu118Val) | |
| 11 | g.13492496T>C | CA379724511 | PTH | c.257A>G (p.Glu86Gly) c.353A>G (p.Glu118Gly) | |
| 11 | g.13492496T>G | CA379724512 | PTH | c.257A>C (p.Glu86Ala) c.353A>C (p.Glu118Ala) | |
| 11 | g.13492497C>A | CA379724514 | PTH | c.256G>T (p.Glu86Ter) c.352G>T (p.Glu118Ter) | |
| 11 | g.13492497C= | CA1953324100 | PTH | c.256G= (p.Glu86=) c.352G= (p.Glu118=) | |
| 11 | g.13492497C>G | CA379724515 | PTH | c.256G>C (p.Glu86Gln) c.352G>C (p.Glu118Gln) | |
| 11 | g.13492497C>T | CA379724513 | PTH | c.256G>A (p.Glu86Lys) c.352G>A (p.Glu118Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.13492498C>A | CA379724516 | PTH | c.255G>T (p.Lys85Asn) c.351G>T (p.Lys117Asn) | |
| 11 | g.13492498C= | CA1953324103 | PTH | c.255G= (p.Lys85=) c.351G= (p.Lys117=) | |
| 11 | g.13492498C>G | CA379724517 | PTH | c.255G>C (p.Lys85Asn) c.351G>C (p.Lys117Asn) | |
| 11 | g.13492498C>T | CA5893167 | PTH | c.255G>A (p.Lys85=) c.351G>A (p.Lys117=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.13492499T>A | CA379724518 | PTH | c.254A>T (p.Lys85Met) c.350A>T (p.Lys117Met) | |
| 11 | g.13492499T>C | CA379724519 | PTH | c.254A>G (p.Lys85Arg) c.350A>G (p.Lys117Arg) | gnomAD v4 |
| 11 | g.13492499T>G | CA379724520 | PTH | c.254A>C (p.Lys85Thr) c.350A>C (p.Lys117Thr) | dbSNP |
| 11 | g.13492499T= | CA1953324108 | PTH | c.254A= (p.Lys85=) c.350A= (p.Lys117=) | |
| 11 | g.13492500T>A | CA379724521 | PTH | c.253A>T (p.Lys85Ter) c.349A>T (p.Lys117Ter) | dbSNP |
| 11 | g.13492500T>C | CA379724522 | PTH | c.253A>G (p.Lys85Glu) c.349A>G (p.Lys117Glu) | |
| 11 | g.13492500T>G | CA379724523 | PTH | c.253A>C (p.Lys85Gln) c.349A>C (p.Lys117Gln) |