12 | g.49950871T>A | CA384771498 | AQP2 | c.41T>A (p.Phe14Tyr)
| |
12 | g.49950871T>C | CA384771499 | AQP2 | c.41T>C (p.Phe14Ser)
| |
12 | g.49950871T>G | CA384771501 | AQP2 | c.41T>G (p.Phe14Cys)
| |
12 | g.49950872C>A | CA384771504 | AQP2 | c.42C>A (p.Phe14Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950872C= | CA2035390286 | AQP2 | c.42C= (p.Phe14=)
| |
12 | g.49950872C>G | CA384771505 | AQP2 | c.42C>G (p.Phe14Leu)
| gnomAD v4 |
12 | g.49950872C>T | CA6559131 | AQP2 | c.42C>T (p.Phe14=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.49950873G>A | CA6559132 | AQP2 | c.43G>A (p.Ala15Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950873G>C | CA384771510 | AQP2 | c.43G>C (p.Ala15Pro)
| |
12 | g.49950873G= | CA2035390291 | AQP2 | c.43G= (p.Ala15=)
| |
12 | g.49950873G>T | CA384771509 | AQP2 | c.43G>T (p.Ala15Ser)
| gnomAD v4 |
12 | g.49950874C>A | CA384771512 | AQP2 | c.44C>A (p.Ala15Glu)
| |
12 | g.49950874C>G | CA384771513 | AQP2 | c.44C>G (p.Ala15Gly)
| |
12 | g.49950874C>T | CA384771515 | AQP2 | c.44C>T (p.Ala15Val)
| |
12 | g.49950875A>C | CA479583614 | AQP2 | c.45A>C (p.Ala15=)
| |
12 | g.49950875A>G | CA479583616 | AQP2 | c.45A>G (p.Ala15=)
| ClinVar |
12 | g.49950875A>T | CA479583618 | AQP2 | c.45A>T (p.Ala15=)
| |
12 | g.49950876G>A | CA384771516 | AQP2 | c.46G>A (p.Glu16Lys)
| |
12 | g.49950876G>C | CA384771518 | AQP2 | c.46G>C (p.Glu16Gln)
| |
12 | g.49950876G>T | CA384771520 | AQP2 | c.46G>T (p.Glu16Ter)
| |
12 | g.49950877A>C | CA384771522 | AQP2 | c.47A>C (p.Glu16Ala)
| |
12 | g.49950877A>G | CA384771523 | AQP2 | c.47A>G (p.Glu16Gly)
| gnomAD v4 |
12 | g.49950877A>T | CA384771525 | AQP2 | c.47A>T (p.Glu16Val)
| |
12 | g.49950878G>A | CA479583624 | AQP2 | c.48G>A (p.Glu16=)
| dbSNP |
12 | g.49950878G>C | CA384771527 | AQP2 | c.48G>C (p.Glu16Asp)
| |
12 | g.49950878G= | CA2035390294 | AQP2 | c.48G= (p.Glu16=)
| |
12 | g.49950878G>T | CA384771528 | AQP2 | c.48G>T (p.Glu16Asp)
| |
12 | g.49950879T>A | CA384771531 | AQP2 | c.49T>A (p.Phe17Ile)
| |
12 | g.49950879T>C | CA6559133 | AQP2 | c.49T>C (p.Phe17Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950879T>G | CA384771530 | AQP2 | c.49T>G (p.Phe17Val)
| |
12 | g.49950879T= | CA2035390297 | AQP2 | c.49T= (p.Phe17=)
| |
12 | g.49950880T>A | CA384771534 | AQP2 | c.50T>A (p.Phe17Tyr)
| |
12 | g.49950880T>C | CA384771536 | AQP2 | c.50T>C (p.Phe17Ser)
| |
12 | g.49950880T>G | CA384771538 | AQP2 | c.50T>G (p.Phe17Cys)
| |
12 | g.49950881C>A | CA384771541 | AQP2 | c.51C>A (p.Phe17Leu)
| |
12 | g.49950881C= | CA2035390298 | AQP2 | c.51C= (p.Phe17=)
| |
12 | g.49950881C>G | CA384771542 | AQP2 | c.51C>G (p.Phe17Leu)
| |
12 | g.49950881C>T | CA236731027 | AQP2 | c.51C>T (p.Phe17=)
| ClinVar dbSNP |
12 | g.49950882C>A | CA384771545 | AQP2 | c.52C>A (p.Leu18Met)
| |
12 | g.49950882C>G | CA384771547 | AQP2 | c.52C>G (p.Leu18Val)
| |
12 | g.49950882C>T | CA479583638 | AQP2 | c.52C>T (p.Leu18=)
| |
12 | g.49950883T>A | CA384771549 | AQP2 | c.53T>A (p.Leu18Gln)
| |
12 | g.49950883T>C | CA384771551 | AQP2 | c.53T>C (p.Leu18Pro)
| |
12 | g.49950883T>G | CA384771552 | AQP2 | c.53T>G (p.Leu18Arg)
| dbSNP gnomAD v4 |
12 | g.49950883T= | CA2035390301 | AQP2 | c.53T= (p.Leu18=)
| |
12 | g.49950884G>A | CA479583642 | AQP2 | c.54G>A (p.Leu18=)
| |
12 | g.49950884G>C | CA479583643 | AQP2 | c.54G>C (p.Leu18=)
| |
12 | g.49950884G>T | CA479583644 | AQP2 | c.54G>T (p.Leu18=)
| |
12 | g.49950885G>A | CA6559134 | AQP2 | c.55G>A (p.Ala19Thr)
| dbSNP ExAC gnomAD v2 |
12 | g.49950885G>C | CA384771557 | AQP2 | c.55G>C (p.Ala19Pro)
| |
12 | g.49950885G= | CA2035390303 | AQP2 | c.55G= (p.Ala19=)
| |
12 | g.49950885G>T | CA384771555 | AQP2 | c.55G>T (p.Ala19Ser)
| gnomAD v4 |
12 | g.49950886C>A | CA384771560 | AQP2 | c.56C>A (p.Ala19Asp)
| |
12 | g.49950886C= | CA2035390306 | AQP2 | c.56C= (p.Ala19=)
| |
12 | g.49950886C>G | CA384771561 | AQP2 | c.56C>G (p.Ala19Gly)
| |
12 | g.49950886C>T | CA384771563 | AQP2 | c.56C>T (p.Ala19Val)
| dbSNP |
12 | g.49950887C>A | CA479583651 | AQP2 | c.57C>A (p.Ala19=)
| |
12 | g.49950887C>G | CA479583653 | AQP2 | c.57C>G (p.Ala19=)
| |
12 | g.49950887C>T | CA479583654 | AQP2 | c.57C>T (p.Ala19=)
| |
12 | g.49950890_49950891dup | CA2035390313 | AQP2 | c.60_61dup (p.Leu21HisfsTer?)
| dbSNP gnomAD v4 |
12 | g.49950890_49950891del | CA2618690747 | AQP2 | c.60_61del (p.Leu21ProfsTer?)
| gnomAD v4 |
12 | g.49950888A>C | CA384771565 | AQP2 | c.58A>C (p.Thr20Pro)
| |
12 | g.49950888A>G | CA384771567 | AQP2 | c.58A>G (p.Thr20Ala)
| gnomAD v4 |
12 | g.49950888A>T | CA384771568 | AQP2 | c.58A>T (p.Thr20Ser)
| |
12 | g.49950889C>A | CA384771569 | AQP2 | c.59C>A (p.Thr20Lys)
| |
12 | g.49950889C= | CA2035390316 | AQP2 | c.59C= (p.Thr20=)
| |
12 | g.49950889C>G | CA384771572 | AQP2 | c.59C>G (p.Thr20Arg)
| |
12 | g.49950889C>T | CA384771571 | AQP2 | c.59C>T (p.Thr20Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950890A>C | CA479583663 | AQP2 | c.60A>C (p.Thr20=)
| ClinVar |
12 | g.49950890A>G | CA479583664 | AQP2 | c.60A>G (p.Thr20=)
| ClinVar |
12 | g.49950890A>T | CA479583662 | AQP2 | c.60A>T (p.Thr20=)
| gnomAD v4 |
12 | g.49950890_49950893delinsACTC | CA2035390318 | AQP2 | c.60_63delinsACTC (p.Thr20=)
| |
12 | g.49950891C>A | CA384771574 | AQP2 | c.61C>A (p.Leu21Ile)
| |
12 | g.49950891C= | CA2035390326 | AQP2 | c.61C= (p.Leu21=)
| |
12 | g.49950891C>G | CA6559135 | AQP2 | c.61C>G (p.Leu21Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950891C>T | CA6559136 | AQP2 | c.61C>T (p.Leu21Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950894_49950896del | CA236731047 | AQP2 | c.64_66del (p.Leu22del)
| dbSNP |
12 | g.49950892T>A | CA384771582 | AQP2 | c.62T>A (p.Leu21His)
| |
12 | g.49950892T>C | CA384771580 | AQP2 | c.62T>C (p.Leu21Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950892T>G | CA384771578 | AQP2 | c.62T>G (p.Leu21Arg)
| |
12 | g.49950892T= | CA2035390331 | AQP2 | c.62T= (p.Leu21=)
| |
12 | g.49950893C>A | CA479583674 | AQP2 | c.63C>A (p.Leu21=)
| dbSNP |
12 | g.49950893C= | CA2035390334 | AQP2 | c.63C= (p.Leu21=)
| |
12 | g.49950893C>G | CA479583675 | AQP2 | c.63C>G (p.Leu21=)
| ClinVar dbSNP gnomAD v4 |
12 | g.49950893C>T | CA6559137 | AQP2 | c.63C>T (p.Leu21=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950894C>A | CA384771585 | AQP2 | c.64C>A (p.Leu22Ile)
| COSMIC |
12 | g.49950894C= | CA2035390344 | AQP2 | c.64C= (p.Leu22=)
| |
12 | g.49950894C>G | CA127482 | AQP2 | c.64C>G (p.Leu22Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950894C>T | CA384771587 | AQP2 | c.64C>T (p.Leu22Phe)
| |
12 | g.49950895del | CA2618690775 | AQP2 | c.65del (p.Leu22ProfsTer?)
| gnomAD v4 |
12 | g.49950895T>A | CA384771590 | AQP2 | c.65T>A (p.Leu22His)
| |
12 | g.49950895T>C | CA384771591 | AQP2 | c.65T>C (p.Leu22Pro)
| |
12 | g.49950895T>G | CA384771593 | AQP2 | c.65T>G (p.Leu22Arg)
| |
12 | g.49950896C>A | CA479583684 | AQP2 | c.66C>A (p.Leu22=)
| |
12 | g.49950896C>G | CA479583685 | AQP2 | c.66C>G (p.Leu22=)
| gnomAD v4 |
12 | g.49950896C>T | CA479583687 | AQP2 | c.66C>T (p.Leu22=)
| |
12 | g.49950897T>A | CA384771595 | AQP2 | c.67T>A (p.Phe23Ile)
| |
12 | g.49950897T>C | CA384771597 | AQP2 | c.67T>C (p.Phe23Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49950897T>G | CA384771599 | AQP2 | c.67T>G (p.Phe23Val)
| |
12 | g.49950897T= | CA2035390347 | AQP2 | c.67T= (p.Phe23=)
| |
12 | g.49950898T>A | CA384771600 | AQP2 | c.68T>A (p.Phe23Tyr)
| |
12 | g.49950898T>C | CA384771601 | AQP2 | c.68T>C (p.Phe23Ser)
| |
12 | g.49950898T>G | CA384771603 | AQP2 | c.68T>G (p.Phe23Cys)
| |
12 | g.49950899C>A | CA384771607 | AQP2 | c.69C>A (p.Phe23Leu)
| |
12 | g.49950899C= | CA2035390350 | AQP2 | c.69C= (p.Phe23=)
| |
12 | g.49950899C>G | CA384771605 | AQP2 | c.69C>G (p.Phe23Leu)
| |
12 | g.49950899C>T | CA6559138 | AQP2 | c.69C>T (p.Phe23=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950900G>A | CA6559139 | AQP2 | c.70G>A (p.Val24Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950900G>C | CA384771610 | AQP2 | c.70G>C (p.Val24Leu)
| |
12 | g.49950900G= | CA2035390353 | AQP2 | c.70G= (p.Val24=)
| |
12 | g.49950900G>T | CA384771612 | AQP2 | c.70G>T (p.Val24Phe)
| |
12 | g.49950901T>A | CA384771614 | AQP2 | c.71T>A (p.Val24Asp)
| |
12 | g.49950901T>C | CA384771616 | AQP2 | c.71T>C (p.Val24Ala)
| |
12 | g.49950901T>G | CA384771618 | AQP2 | c.71T>G (p.Val24Gly)
| |
12 | g.49950902C>A | CA479583701 | AQP2 | c.72C>A (p.Val24=)
| |
12 | g.49950902C>G | CA479583702 | AQP2 | c.72C>G (p.Val24=)
| gnomAD v4 |
12 | g.49950902C>T | CA479583703 | AQP2 | c.72C>T (p.Val24=)
| |
12 | g.49950903T>A | CA384771620 | AQP2 | c.73T>A (p.Phe25Ile)
| |
12 | g.49950903T>C | CA384771622 | AQP2 | c.73T>C (p.Phe25Leu)
| |
12 | g.49950903T>G | CA384771624 | AQP2 | c.73T>G (p.Phe25Val)
| COSMIC |
12 | g.49950904T>A | CA384771626 | AQP2 | c.74T>A (p.Phe25Tyr)
| |
12 | g.49950904T>C | CA384771627 | AQP2 | c.74T>C (p.Phe25Ser)
| |
12 | g.49950904T>G | CA384771629 | AQP2 | c.74T>G (p.Phe25Cys)
| |
12 | g.49950905C>A | CA384771631 | AQP2 | c.75C>A (p.Phe25Leu)
| |
12 | g.49950905C>G | CA384771632 | AQP2 | c.75C>G (p.Phe25Leu)
| |
12 | g.49950905C>T | CA479583709 | AQP2 | c.75C>T (p.Phe25=)
| |
12 | g.49950906T>A | CA384771639 | AQP2 | c.76T>A (p.Phe26Ile)
| |
12 | g.49950906T>C | CA384771636 | AQP2 | c.76T>C (p.Phe26Leu)
| |
12 | g.49950906T>G | CA384771634 | AQP2 | c.76T>G (p.Phe26Val)
| |
12 | g.49950907T>A | CA384771640 | AQP2 | c.77T>A (p.Phe26Tyr)
| |
12 | g.49950907T>C | CA384771641 | AQP2 | c.77T>C (p.Phe26Ser)
| |
12 | g.49950907T>G | CA384771643 | AQP2 | c.77T>G (p.Phe26Cys)
| |
12 | g.49950908T>A | CA384771645 | AQP2 | c.78T>A (p.Phe26Leu)
| |
12 | g.49950908T>C | CA6559140 | AQP2 | c.78T>C (p.Phe26=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950908T>G | CA384771647 | AQP2 | c.78T>G (p.Phe26Leu)
| |
12 | g.49950908T= | CA2035390358 | AQP2 | c.78T= (p.Phe26=)
| |
12 | g.49950909G>A | CA384771652 | AQP2 | c.79G>A (p.Gly27Ser)
| |
12 | g.49950909G>C | CA6559141 | AQP2 | c.79G>C (p.Gly27Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950909G= | CA2035390363 | AQP2 | c.79G= (p.Gly27=)
| |
12 | g.49950909G>T | CA384771649 | AQP2 | c.79G>T (p.Gly27Cys)
| |
12 | g.49950910G>A | CA384771654 | AQP2 | c.80G>A (p.Gly27Asp)
| |
12 | g.49950910G>C | CA384771656 | AQP2 | c.80G>C (p.Gly27Ala)
| |
12 | g.49950910G>T | CA384771658 | AQP2 | c.80G>T (p.Gly27Val)
| |
12 | g.49950911C>A | CA479583730 | AQP2 | c.81C>A (p.Gly27=)
| |
12 | g.49950911C>G | CA479583726 | AQP2 | c.81C>G (p.Gly27=)
| |
12 | g.49950911C>T | CA479583728 | AQP2 | c.81C>T (p.Gly27=)
| |
12 | g.49950912C>A | CA384771659 | AQP2 | c.82C>A (p.Leu28Ile)
| dbSNP gnomAD v4 |
12 | g.49950912C= | CA2035390368 | AQP2 | c.82C= (p.Leu28=)
| |
12 | g.49950912C>G | CA384771661 | AQP2 | c.82C>G (p.Leu28Val)
| dbSNP |
12 | g.49950912C>T | CA384771663 | AQP2 | c.82C>T (p.Leu28Phe)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950913T>A | CA384771665 | AQP2 | c.83T>A (p.Leu28His)
| dbSNP |
12 | g.49950913T>C | CA384771669 | AQP2 | c.83T>C (p.Leu28Pro)
| |
12 | g.49950913T>G | CA384771667 | AQP2 | c.83T>G (p.Leu28Arg)
| |
12 | g.49950913T= | CA2035390373 | AQP2 | c.83T= (p.Leu28=)
| |
12 | g.49950914C>A | CA479583736 | AQP2 | c.84C>A (p.Leu28=)
| dbSNP |
12 | g.49950914C= | CA2035390379 | AQP2 | c.84C= (p.Leu28=)
| |
12 | g.49950914C>G | CA479583738 | AQP2 | c.84C>G (p.Leu28=)
| |
12 | g.49950914C>T | CA6559142 | AQP2 | c.84C>T (p.Leu28=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.49950915G>A | CA236731096 | AQP2 | c.85G>A (p.Gly29Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950915G>C | CA384771673 | AQP2 | c.85G>C (p.Gly29Arg)
| |
12 | g.49950915G= | CA2035390381 | AQP2 | c.85G= (p.Gly29=)
| |
12 | g.49950915G>T | CA384771674 | AQP2 | c.85G>T (p.Gly29Cys)
| |
12 | g.49950916G>A | CA384771677 | AQP2 | c.86G>A (p.Gly29Asp)
| |
12 | g.49950916G>C | CA384771679 | AQP2 | c.86G>C (p.Gly29Ala)
| |
12 | g.49950916G>T | CA384771680 | AQP2 | c.86G>T (p.Gly29Val)
| gnomAD v4 |
12 | g.49950917C>A | CA236731105 | AQP2 | c.87C>A (p.Gly29=)
| dbSNP |
12 | g.49950917C= | CA2035390382 | AQP2 | c.87C= (p.Gly29=)
| |
12 | g.49950917C>G | CA479583748 | AQP2 | c.87C>G (p.Gly29=)
| |
12 | g.49950917C>T | CA479583751 | AQP2 | c.87C>T (p.Gly29=)
| ClinVar gnomAD v4 |
12 | g.49950918T>A | CA384771684 | AQP2 | c.88T>A (p.Ser30Thr)
| |
12 | g.49950918T>C | CA384771685 | AQP2 | c.88T>C (p.Ser30Pro)
| gnomAD v4 |
12 | g.49950918T>G | CA384771687 | AQP2 | c.88T>G (p.Ser30Ala)
| |
12 | g.49950918_49950941delinsTCTGCCCTCAACTGGCCACAGGCC | CA2035390385 | AQP2 | c.88_111delinsTCTGCCCTCAACTGGCCACAGGCC (p.Ser30=)
| |
12 | g.49950919C>A | CA384771689 | AQP2 | c.89C>A (p.Ser30Tyr)
| |
12 | g.49950919C>G | CA384771691 | AQP2 | c.89C>G (p.Ser30Cys)
| gnomAD v4 |
12 | g.49950919C>T | CA384771694 | AQP2 | c.89C>T (p.Ser30Phe)
| |
12 | g.49950927_49950949del | CA6559143 | AQP2 | c.97_119del (p.Asn33CysfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950920T>A | CA479583760 | AQP2 | c.90T>A (p.Ser30=)
| |
12 | g.49950920T>C | CA479583761 | AQP2 | c.90T>C (p.Ser30=)
| |
12 | g.49950920T>G | CA479583763 | AQP2 | c.90T>G (p.Ser30=)
| dbSNP |
12 | g.49950921G>A | CA384771699 | AQP2 | c.91G>A (p.Ala31Thr)
| dbSNP |
12 | g.49950921G>C | CA384771696 | AQP2 | c.91G>C (p.Ala31Pro)
| |
12 | g.49950921G= | CA2035390394 | AQP2 | c.91G= (p.Ala31=)
| |
12 | g.49950921G>T | CA384771697 | AQP2 | c.91G>T (p.Ala31Ser)
| |
12 | g.49950922C>A | CA384771702 | AQP2 | c.92C>A (p.Ala31Asp)
| |
12 | g.49950922C= | CA2035390400 | AQP2 | c.92C= (p.Ala31=)
| |
12 | g.49950922C>G | CA384771704 | AQP2 | c.92C>G (p.Ala31Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950922C>T | CA384771705 | AQP2 | c.92C>T (p.Ala31Val)
| gnomAD v4 |
12 | g.49950923C>A | CA479583771 | AQP2 | c.93C>A (p.Ala31=)
| dbSNP gnomAD v2 |
12 | g.49950923C= | CA2035390405 | AQP2 | c.93C= (p.Ala31=)
| |
12 | g.49950923C>G | CA479583773 | AQP2 | c.93C>G (p.Ala31=)
| |
12 | g.49950923C>T | CA6559144 | AQP2 | c.93C>T (p.Ala31=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950924C>A | CA384771708 | AQP2 | c.94C>A (p.Leu32Ile)
| dbSNP |
12 | g.49950924C= | CA2035390411 | AQP2 | c.94C= (p.Leu32=)
| |
12 | g.49950924C>G | CA384771710 | AQP2 | c.94C>G (p.Leu32Val)
| |
12 | g.49950924C>T | CA384771712 | AQP2 | c.94C>T (p.Leu32Phe)
| |
12 | g.49950925T>A | CA384771714 | AQP2 | c.95T>A (p.Leu32His)
| |
12 | g.49950925T>C | CA384771715 | AQP2 | c.95T>C (p.Leu32Pro)
| |
12 | g.49950925T>G | CA384771717 | AQP2 | c.95T>G (p.Leu32Arg)
| |
12 | g.49950926C>A | CA479583781 | AQP2 | c.96C>A (p.Leu32=)
| |
12 | g.49950926C>G | CA479583783 | AQP2 | c.96C>G (p.Leu32=)
| |
12 | g.49950926C>T | CA479583784 | AQP2 | c.96C>T (p.Leu32=)
| |
12 | g.49950927A>C | CA384771723 | AQP2 | c.97A>C (p.Asn33His)
| |
12 | g.49950927A>G | CA384771720 | AQP2 | c.97A>G (p.Asn33Asp)
| |
12 | g.49950927A>T | CA384771722 | AQP2 | c.97A>T (p.Asn33Tyr)
| |
12 | g.49950928A>C | CA384771725 | AQP2 | c.98A>C (p.Asn33Thr)
| |
12 | g.49950928A>G | CA384771727 | AQP2 | c.98A>G (p.Asn33Ser)
| gnomAD v4 |
12 | g.49950928A>T | CA384771728 | AQP2 | c.98A>T (p.Asn33Ile)
| dbSNP |
12 | g.49950929C>A | CA384771729 | AQP2 | c.99C>A (p.Asn33Lys)
| |
12 | g.49950929C>G | CA384771731 | AQP2 | c.99C>G (p.Asn33Lys)
| |
12 | g.49950929C>T | CA479583796 | AQP2 | c.99C>T (p.Asn33=)
| ClinVar gnomAD v4 |
12 | g.49950930T>A | CA384771733 | AQP2 | c.100T>A (p.Trp34Arg)
| |
12 | g.49950930T>C | CA384771735 | AQP2 | c.100T>C (p.Trp34Arg)
| gnomAD v4 |
12 | g.49950930T>G | CA384771736 | AQP2 | c.100T>G (p.Trp34Gly)
| |
12 | g.49950931G>A | CA384771738 | AQP2 | c.101G>A (p.Trp34Ter)
| gnomAD v4 |
12 | g.49950931G>C | CA384771740 | AQP2 | c.101G>C (p.Trp34Ser)
| |
12 | g.49950931G>T | CA384771742 | AQP2 | c.101G>T (p.Trp34Leu)
| COSMIC |
12 | g.49950932G>A | CA6559145 | AQP2 | c.102G>A (p.Trp34Ter)
| dbSNP ExAC gnomAD v2 |
12 | g.49950932G>C | CA384771746 | AQP2 | c.102G>C (p.Trp34Cys)
| |
12 | g.49950932G= | CA2035390414 | AQP2 | c.102G= (p.Trp34=)
| |
12 | g.49950932G>T | CA384771744 | AQP2 | c.102G>T (p.Trp34Cys)
| gnomAD v4 |
12 | g.49950932_49950934del | CA2580086371 | AQP2 | c.102_104del (p.Trp34Ter)
| ClinVar |
12 | g.49950933C>A | CA6559146 | AQP2 | c.103C>A (p.Pro35Thr)
| dbSNP ExAC gnomAD v2 |
12 | g.49950933C= | CA2035390419 | AQP2 | c.103C= (p.Pro35=)
| |
12 | g.49950933C>G | CA384771748 | AQP2 | c.103C>G (p.Pro35Ala)
| gnomAD v4 |
12 | g.49950933C>T | CA384771749 | AQP2 | c.103C>T (p.Pro35Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950934C>A | CA384771751 | AQP2 | c.104C>A (p.Pro35Gln)
| |
12 | g.49950934C>G | CA384771753 | AQP2 | c.104C>G (p.Pro35Arg)
| |
12 | g.49950934C>T | CA384771755 | AQP2 | c.104C>T (p.Pro35Leu)
| |
12 | g.49950935A>C | CA479583813 | AQP2 | c.105A>C (p.Pro35=)
| |
12 | g.49950935A>G | CA479583815 | AQP2 | c.105A>G (p.Pro35=)
| |
12 | g.49950935A>T | CA479583817 | AQP2 | c.105A>T (p.Pro35=)
| |
12 | g.49950936C>A | CA384771759 | AQP2 | c.106C>A (p.Gln36Lys)
| |
12 | g.49950936C= | CA2035390426 | AQP2 | c.106C= (p.Gln36=)
| |
12 | g.49950936C>G | CA384771757 | AQP2 | c.106C>G (p.Gln36Glu)
| |
12 | g.49950936C>T | CA384771758 | AQP2 | c.106C>T (p.Gln36Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49950937A= | CA2035390430 | AQP2 | c.107A= (p.Gln36=)
| |
12 | g.49950937A>C | CA384771761 | AQP2 | c.107A>C (p.Gln36Pro)
| |
12 | g.49950937A>G | CA384771762 | AQP2 | c.107A>G (p.Gln36Arg)
| dbSNP gnomAD v4 |
12 | g.49950937A>T | CA384771764 | AQP2 | c.107A>T (p.Gln36Leu)
| |
12 | g.49950938G>A | CA479583826 | AQP2 | c.108G>A (p.Gln36=)
| |
12 | g.49950938G>C | CA384771766 | AQP2 | c.108G>C (p.Gln36His)
| |
12 | g.49950938G>T | CA384771767 | AQP2 | c.108G>T (p.Gln36His)
| |
12 | g.49950939G>A | CA384771769 | AQP2 | c.109G>A (p.Ala37Thr)
| |
12 | g.49950939G>C | CA384771772 | AQP2 | c.109G>C (p.Ala37Pro)
| |
12 | g.49950939G= | CA2035390433 | AQP2 | c.109G= (p.Ala37=)
| |
12 | g.49950939G>T | CA384771771 | AQP2 | c.109G>T (p.Ala37Ser)
| dbSNP |
12 | g.49950940C>A | CA384771775 | AQP2 | c.110C>A (p.Ala37Asp)
| |
12 | g.49950940C= | CA2035390442 | AQP2 | c.110C= (p.Ala37=)
| |
12 | g.49950940C>G | CA384771776 | AQP2 | c.110C>G (p.Ala37Gly)
| |
12 | g.49950940C>T | CA384771777 | AQP2 | c.110C>T (p.Ala37Val)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49950942del | CA2618690854 | AQP2 | c.112del (p.Leu38CysfsTer25)
| gnomAD v4 |
12 | g.49950941C>A | CA6559147 | AQP2 | c.111C>A (p.Ala37=)
| dbSNP ExAC gnomAD v2 |
12 | g.49950941C= | CA2035390445 | AQP2 | c.111C= (p.Ala37=)
| |
12 | g.49950941C>G | CA479583838 | AQP2 | c.111C>G (p.Ala37=)
| |
12 | g.49950941C>T | CA479583836 | AQP2 | c.111C>T (p.Ala37=)
| ClinVar |
12 | g.49950942C>A | CA384771781 | AQP2 | c.112C>A (p.Leu38Met)
| |
12 | g.49950942C>G | CA384771783 | AQP2 | c.112C>G (p.Leu38Val)
| gnomAD v4 |
12 | g.49950942C>T | CA479583843 | AQP2 | c.112C>T (p.Leu38=)
| ClinVar |
12 | g.49950943T>A | CA384771784 | AQP2 | c.113T>A (p.Leu38Gln)
| |
12 | g.49950943T>C | CA384771786 | AQP2 | c.113T>C (p.Leu38Pro)
| |
12 | g.49950943T>G | CA384771787 | AQP2 | c.113T>G (p.Leu38Arg)
| |
12 | g.49950944G>A | CA6559148 | AQP2 | c.114G>A (p.Leu38=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.49950944G>C | CA479583851 | AQP2 | c.114G>C (p.Leu38=)
| |
12 | g.49950944G= | CA2035390447 | AQP2 | c.114G= (p.Leu38=)
| |
12 | g.49950944G>T | CA479583849 | AQP2 | c.114G>T (p.Leu38=)
| |
12 | g.49950945C>A | CA384771792 | AQP2 | c.115C>A (p.Pro39Thr)
| |
12 | g.49950945C>G | CA384771790 | AQP2 | c.115C>G (p.Pro39Ala)
| |
12 | g.49950945C>T | CA384771788 | AQP2 | c.115C>T (p.Pro39Ser)
| gnomAD v4 |
12 | g.49950946C>A | CA384771794 | AQP2 | c.116C>A (p.Pro39His)
| dbSNP gnomAD v4 |
12 | g.49950946C= | CA2035390450 | AQP2 | c.116C= (p.Pro39=)
| |
12 | g.49950946C>G | CA384771798 | AQP2 | c.116C>G (p.Pro39Arg)
| |
12 | g.49950946C>T | CA384771796 | AQP2 | c.116C>T (p.Pro39Leu)
| |
12 | g.49950947C>A | CA479583860 | AQP2 | c.117C>A (p.Pro39=)
| |
12 | g.49950947C>G | CA479583861 | AQP2 | c.117C>G (p.Pro39=)
| |
12 | g.49950947C>T | CA479583863 | AQP2 | c.117C>T (p.Pro39=)
| ClinVar dbSNP |
12 | g.49950948T>A | CA384771800 | AQP2 | c.118T>A (p.Ser40Thr)
| |
12 | g.49950948T>C | CA384771803 | AQP2 | c.118T>C (p.Ser40Pro)
| |
12 | g.49950948T>G | CA384771801 | AQP2 | c.118T>G (p.Ser40Ala)
| |
12 | g.49950949C>A | CA384771804 | AQP2 | c.119C>A (p.Ser40Tyr)
| |
12 | g.49950949C>G | CA384771807 | AQP2 | c.119C>G (p.Ser40Cys)
| ClinVar |
12 | g.49950949C>T | CA384771806 | AQP2 | c.119C>T (p.Ser40Phe)
| |
12 | g.49950950T>A | CA479583872 | AQP2 | c.120T>A (p.Ser40=)
| |
12 | g.49950950T>C | CA479583873 | AQP2 | c.120T>C (p.Ser40=)
| |
12 | g.49950950T>G | CA479583875 | AQP2 | c.120T>G (p.Ser40=)
| |
12 | g.49950951G>A | CA384771808 | AQP2 | c.121G>A (p.Val41Met)
| |
12 | g.49950951G>C | CA384771812 | AQP2 | c.121G>C (p.Val41Leu)
| dbSNP |
12 | g.49950951G= | CA2035390454 | AQP2 | c.121G= (p.Val41=)
| |
12 | g.49950951G>T | CA384771810 | AQP2 | c.121G>T (p.Val41Leu)
| |
12 | g.49950952T>A | CA384771814 | AQP2 | c.122T>A (p.Val41Glu)
| |
12 | g.49950952T>C | CA384771818 | AQP2 | c.122T>C (p.Val41Ala)
| |
12 | g.49950952T>G | CA384771816 | AQP2 | c.122T>G (p.Val41Gly)
| |
12 | g.49950953G>A | CA479583883 | AQP2 | c.123G>A (p.Val41=)
| gnomAD v4 |
12 | g.49950953G>C | CA479583885 | AQP2 | c.123G>C (p.Val41=)
| |
12 | g.49950953G>T | CA479583886 | AQP2 | c.123G>T (p.Val41=)
| |
12 | g.49950954C>A | CA384771820 | AQP2 | c.124C>A (p.Leu42Ile)
| |
12 | g.49950954C= | CA2035390461 | AQP2 | c.124C= (p.Leu42=)
| |
12 | g.49950954C>G | CA384771822 | AQP2 | c.124C>G (p.Leu42Val)
| dbSNP |
12 | g.49950954C>T | CA479583890 | AQP2 | c.124C>T (p.Leu42=)
| |
12 | g.49950955T>A | CA384771824 | AQP2 | c.125T>A (p.Leu42Gln)
| |
12 | g.49950955T>C | CA6559149 | AQP2 | c.125T>C (p.Leu42Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950955T>G | CA384771825 | AQP2 | c.125T>G (p.Leu42Arg)
| |
12 | g.49950955T= | CA2035390464 | AQP2 | c.125T= (p.Leu42=)
| |
12 | g.49950955_49950957delinsTAC | CA2035390465 | AQP2 | c.125_127delinsTAC (p.Leu42=)
| |
12 | g.49950956A= | CA2035390468 | AQP2 | c.126A= (p.Leu42=)
| |
12 | g.49950956A>C | CA479583897 | AQP2 | c.126A>C (p.Leu42=)
| |
12 | g.49950956A>G | CA479583899 | AQP2 | c.126A>G (p.Leu42=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950956A>T | CA479583901 | AQP2 | c.126A>T (p.Leu42=)
| |
12 | g.49950957_49950958del | CA604909796 | AQP2 | c.127_128del (p.Gln43AspfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950957C>A | CA384771827 | AQP2 | c.127C>A (p.Gln43Lys)
| |
12 | g.49950957C= | CA2035390473 | AQP2 | c.127C= (p.Gln43=)
| |
12 | g.49950957C>G | CA384771828 | AQP2 | c.127C>G (p.Gln43Glu)
| gnomAD v4 |
12 | g.49950957C>T | CA384771830 | AQP2 | c.127C>T (p.Gln43Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950958A= | CA2035390477 | AQP2 | c.128A= (p.Gln43=)
| |
12 | g.49950958A>C | CA6559150 | AQP2 | c.128A>C (p.Gln43Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950958A>G | CA6559151 | AQP2 | c.128A>G (p.Gln43Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950958A>T | CA384771834 | AQP2 | c.128A>T (p.Gln43Leu)
| |
12 | g.49950959G>A | CA479583910 | AQP2 | c.129G>A (p.Gln43=)
| ClinVar dbSNP |
12 | g.49950959G>C | CA384771835 | AQP2 | c.129G>C (p.Gln43His)
| |
12 | g.49950959G>T | CA384771837 | AQP2 | c.129G>T (p.Gln43His)
| |
12 | g.49950960A>C | CA384771958 | AQP2 | c.130A>C (p.Ile44Leu)
| |
12 | g.49950960A>G | CA384771956 | AQP2 | c.130A>G (p.Ile44Val)
| |
12 | g.49950960A>T | CA384771957 | AQP2 | c.130A>T (p.Ile44Phe)
| |
12 | g.49950961T>A | CA384771959 | AQP2 | c.131T>A (p.Ile44Asn)
| |
12 | g.49950961T>C | CA384771960 | AQP2 | c.131T>C (p.Ile44Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950961T>G | CA384771961 | AQP2 | c.131T>G (p.Ile44Ser)
| |
12 | g.49950961T= | CA2035390481 | AQP2 | c.131T= (p.Ile44=)
| |
12 | g.49950962T>A | CA479584081 | AQP2 | c.132T>A (p.Ile44=)
| |
12 | g.49950962T>C | CA479584082 | AQP2 | c.132T>C (p.Ile44=)
| |
12 | g.49950962T>G | CA384771962 | AQP2 | c.132T>G (p.Ile44Met)
| |
12 | g.49950963G>A | CA384771963 | AQP2 | c.133G>A (p.Ala45Thr)
| dbSNP gnomAD v4 |
12 | g.49950963G>C | CA384771964 | AQP2 | c.133G>C (p.Ala45Pro)
| |
12 | g.49950963G= | CA2035390486 | AQP2 | c.133G= (p.Ala45=)
| |
12 | g.49950963G>T | CA384771965 | AQP2 | c.133G>T (p.Ala45Ser)
| |
12 | g.49950964C>A | CA384771966 | AQP2 | c.134C>A (p.Ala45Asp)
| |
12 | g.49950964C= | CA2035390489 | AQP2 | c.134C= (p.Ala45=)
| |
12 | g.49950964C>G | CA384771967 | AQP2 | c.134C>G (p.Ala45Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950964C>T | CA384771968 | AQP2 | c.134C>T (p.Ala45Val)
| |
12 | g.49950965C>A | CA479584083 | AQP2 | c.135C>A (p.Ala45=)
| |
12 | g.49950965C= | CA2035390493 | AQP2 | c.135C= (p.Ala45=)
| |
12 | g.49950965C>G | CA479584084 | AQP2 | c.135C>G (p.Ala45=)
| |
12 | g.49950965C>T | CA479584085 | AQP2 | c.135C>T (p.Ala45=)
| ClinVar dbSNP |
12 | g.49950966A= | CA2035390496 | AQP2 | c.136A= (p.Met46=)
| |
12 | g.49950966A>C | CA384771969 | AQP2 | c.136A>C (p.Met46Leu)
| |
12 | g.49950966A>G | CA384771970 | AQP2 | c.136A>G (p.Met46Val)
| |
12 | g.49950966A>T | CA6559152 | AQP2 | c.136A>T (p.Met46Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950967T>A | CA384771971 | AQP2 | c.137T>A (p.Met46Lys)
| |
12 | g.49950967T>C | CA384771972 | AQP2 | c.137T>C (p.Met46Thr)
| |
12 | g.49950967T>G | CA384771973 | AQP2 | c.137T>G (p.Met46Arg)
| |
12 | g.49950968G>A | CA6559153 | AQP2 | c.138G>A (p.Met46Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950968G>C | CA384771974 | AQP2 | c.138G>C (p.Met46Ile)
| |
12 | g.49950968G= | CA2035390500 | AQP2 | c.138G= (p.Met46=)
| |
12 | g.49950968G>T | CA384771975 | AQP2 | c.138G>T (p.Met46Ile)
| |
12 | g.49950969G>A | CA384771976 | AQP2 | c.139G>A (p.Ala47Thr)
| |
12 | g.49950969G>C | CA384771978 | AQP2 | c.139G>C (p.Ala47Pro)
| |
12 | g.49950969G>T | CA384771977 | AQP2 | c.139G>T (p.Ala47Ser)
| |
12 | g.49950970C>A | CA384771979 | AQP2 | c.140C>A (p.Ala47Glu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950970C= | CA2035390505 | AQP2 | c.140C= (p.Ala47=)
| |
12 | g.49950970C>G | CA384771980 | AQP2 | c.140C>G (p.Ala47Gly)
| |
12 | g.49950970C>T | CA236731189 | AQP2 | c.140C>T (p.Ala47Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.49950971G>A | CA6559154 | AQP2 | c.141G>A (p.Ala47=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950971G>C | CA479584086 | AQP2 | c.141G>C (p.Ala47=)
| |
12 | g.49950971G= | CA2035390511 | AQP2 | c.141G= (p.Ala47=)
| |
12 | g.49950971G>T | CA479584087 | AQP2 | c.141G>T (p.Ala47=)
| gnomAD v4 |