12 | g.49950823T>C | CA2838196316 | AQP2 | c.-8T>C (n.-8T>C)
| |
12 | g.49950825T>C | CA2618690633 | AQP2 | c.-6T>C (n.-6T>C)
| gnomAD v4 |
12 | g.49950826G>A | CA2575150909 | AQP2 | c.-5G>A (n.-5G>A)
| gnomAD v4 |
12 | g.49950826G>T | CA2838637954 | AQP2 | c.-5G>T (n.-5G>T)
| |
12 | g.49950827C= | CA2035390186 | AQP2 | c.-4C= (n.-4C=)
| |
12 | g.49950827C>T | CA689625520 | AQP2 | c.-4C>T (n.-4C>T)
| dbSNP |
12 | g.49950829G>A | CA6559121 | AQP2 | c.-2G>A (n.-2G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950829G= | CA2035390187 | AQP2 | c.-2G= (n.-2G=)
| |
12 | g.49950830C>T | CA2618690639 | AQP2 | c.-1C>T (n.-1C>T)
| gnomAD v4 |
12 | g.49950831A>C | CA384771335 | AQP2 | c.1A>C (p.Met1Leu)
| |
12 | g.49950831A>G | CA384771337 | AQP2 | c.1A>G (p.Met1Val)
| |
12 | g.49950831A>T | CA384771338 | AQP2 | c.1A>T (p.Met1Leu)
| |
12 | g.49950832T>A | CA384771340 | AQP2 | c.2T>A (p.Met1Lys)
| |
12 | g.49950832T>C | CA384771341 | AQP2 | c.2T>C (p.Met1Thr)
| |
12 | g.49950832T>G | CA384771343 | AQP2 | c.2T>G (p.Met1Arg)
| |
12 | g.49950833G>A | CA384771349 | AQP2 | c.3G>A (p.Met1Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950833G>C | CA384771346 | AQP2 | c.3G>C (p.Met1Ile)
| |
12 | g.49950833G= | CA2035390189 | AQP2 | c.3G= (p.Met1=)
| |
12 | g.49950833G>T | CA384771345 | AQP2 | c.3G>T (p.Met1Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950834T>A | CA384771351 | AQP2 | c.4T>A (p.Trp2Arg)
| |
12 | g.49950834T>C | CA384771352 | AQP2 | c.4T>C (p.Trp2Arg)
| |
12 | g.49950834T>G | CA384771353 | AQP2 | c.4T>G (p.Trp2Gly)
| |
12 | g.49950835G>A | CA384771354 | AQP2 | c.5G>A (p.Trp2Ter)
| dbSNP gnomAD v2 |
12 | g.49950835G>C | CA384771355 | AQP2 | c.5G>C (p.Trp2Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950835G= | CA2035390194 | AQP2 | c.5G= (p.Trp2=)
| |
12 | g.49950835G>T | CA384771356 | AQP2 | c.5G>T (p.Trp2Leu)
| |
12 | g.49950837dup | CA2842437302 | AQP2 | c.7dup (p.Glu3GlyfsTer?)
| |
12 | g.49950837_49950864del | CA2695216831 | AQP2 | c.7_34del (p.Glu3LeufsTer?)
| |
12 | g.49950836G>A | CA384771357 | AQP2 | c.6G>A (p.Trp2Ter)
| gnomAD v4 |
12 | g.49950836G>C | CA384771358 | AQP2 | c.6G>C (p.Trp2Cys)
| |
12 | g.49950836G>T | CA384771360 | AQP2 | c.6G>T (p.Trp2Cys)
| |
12 | g.49950837G>A | CA6559122 | AQP2 | c.7G>A (p.Glu3Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950837G>C | CA384771364 | AQP2 | c.7G>C (p.Glu3Gln)
| gnomAD v4 |
12 | g.49950837G= | CA2035390200 | AQP2 | c.7G= (p.Glu3=)
| |
12 | g.49950837G>T | CA384771365 | AQP2 | c.7G>T (p.Glu3Ter)
| COSMIC |
12 | g.49950838A>C | CA384771367 | AQP2 | c.8A>C (p.Glu3Ala)
| |
12 | g.49950838A>G | CA384771371 | AQP2 | c.8A>G (p.Glu3Gly)
| |
12 | g.49950838A>T | CA384771369 | AQP2 | c.8A>T (p.Glu3Val)
| |
12 | g.49950839G>A | CA6559123 | AQP2 | c.9G>A (p.Glu3=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950839G>C | CA384771376 | AQP2 | c.9G>C (p.Glu3Asp)
| |
12 | g.49950839G= | CA2035390204 | AQP2 | c.9G= (p.Glu3=)
| |
12 | g.49950839G>T | CA384771374 | AQP2 | c.9G>T (p.Glu3Asp)
| |
12 | g.49950840C>A | CA384771378 | AQP2 | c.10C>A (p.Leu4Ile)
| |
12 | g.49950840C= | CA2035390211 | AQP2 | c.10C= (p.Leu4=)
| |
12 | g.49950840C>G | CA384771380 | AQP2 | c.10C>G (p.Leu4Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950840C>T | CA384771379 | AQP2 | c.10C>T (p.Leu4Phe)
| |
12 | g.49950841T>A | CA384771382 | AQP2 | c.11T>A (p.Leu4His)
| |
12 | g.49950841T>C | CA236730931 | AQP2 | c.11T>C (p.Leu4Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950841T>G | CA384771385 | AQP2 | c.11T>G (p.Leu4Arg)
| |
12 | g.49950841T= | CA2035390214 | AQP2 | c.11T= (p.Leu4=)
| |
12 | g.49950842C>A | CA479583475 | AQP2 | c.12C>A (p.Leu4=)
| |
12 | g.49950842C>G | CA479583477 | AQP2 | c.12C>G (p.Leu4=)
| |
12 | g.49950842C>T | CA479583480 | AQP2 | c.12C>T (p.Leu4=)
| |
12 | g.49950843C>A | CA384771387 | AQP2 | c.13C>A (p.Arg5Ser)
| |
12 | g.49950843C= | CA2035390217 | AQP2 | c.13C= (p.Arg5=)
| |
12 | g.49950843C>G | CA384771388 | AQP2 | c.13C>G (p.Arg5Gly)
| |
12 | g.49950843C>T | CA6559124 | AQP2 | c.13C>T (p.Arg5Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.49950844G>A | CA6559125 | AQP2 | c.14G>A (p.Arg5His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950844G>C | CA384771391 | AQP2 | c.14G>C (p.Arg5Pro)
| |
12 | g.49950844G= | CA2035390224 | AQP2 | c.14G= (p.Arg5=)
| |
12 | g.49950844G>T | CA384771392 | AQP2 | c.14G>T (p.Arg5Leu)
| |
12 | g.49950845C>A | CA479583492 | AQP2 | c.15C>A (p.Arg5=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950845C= | CA2035390231 | AQP2 | c.15C= (p.Arg5=)
| |
12 | g.49950845C>G | CA479583494 | AQP2 | c.15C>G (p.Arg5=)
| |
12 | g.49950845C>T | CA6559126 | AQP2 | c.15C>T (p.Arg5=)
| dbSNP ExAC gnomAD v2 COSMIC |
12 | g.49950846T>A | CA384771395 | AQP2 | c.16T>A (p.Ser6Thr)
| |
12 | g.49950846T>C | CA384771397 | AQP2 | c.16T>C (p.Ser6Pro)
| gnomAD v4 |
12 | g.49950846T>G | CA384771399 | AQP2 | c.16T>G (p.Ser6Ala)
| |
12 | g.49950847C>A | CA384771401 | AQP2 | c.17C>A (p.Ser6Tyr)
| |
12 | g.49950847C>G | CA384771404 | AQP2 | c.17C>G (p.Ser6Cys)
| |
12 | g.49950847C>T | CA384771402 | AQP2 | c.17C>T (p.Ser6Phe)
| gnomAD v4 |
12 | g.49950848C>A | CA479583505 | AQP2 | c.18C>A (p.Ser6=)
| |
12 | g.49950848C>G | CA479583507 | AQP2 | c.18C>G (p.Ser6=)
| |
12 | g.49950848C>T | CA479583509 | AQP2 | c.18C>T (p.Ser6=)
| |
12 | g.49950849A= | CA2035390237 | AQP2 | c.19A= (p.Ile7=)
| |
12 | g.49950849A>C | CA384771406 | AQP2 | c.19A>C (p.Ile7Leu)
| |
12 | g.49950849A>G | CA384771408 | AQP2 | c.19A>G (p.Ile7Val)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49950849A>T | CA384771411 | AQP2 | c.19A>T (p.Ile7Leu)
| |
12 | g.49950850T>A | CA384771413 | AQP2 | c.20T>A (p.Ile7Lys)
| |
12 | g.49950850T>C | CA384771415 | AQP2 | c.20T>C (p.Ile7Thr)
| ClinVar dbSNP gnomAD v4 |
12 | g.49950850T>G | CA384771417 | AQP2 | c.20T>G (p.Ile7Arg)
| |
12 | g.49950850T= | CA2035390240 | AQP2 | c.20T= (p.Ile7=)
| |
12 | g.49950851A>C | CA479583520 | AQP2 | c.21A>C (p.Ile7=)
| |
12 | g.49950851A>G | CA384771419 | AQP2 | c.21A>G (p.Ile7Met)
| |
12 | g.49950851A>T | CA479583523 | AQP2 | c.21A>T (p.Ile7=)
| |
12 | g.49950852G>A | CA384771422 | AQP2 | c.22G>A (p.Ala8Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950852G>C | CA384771423 | AQP2 | c.22G>C (p.Ala8Pro)
| gnomAD v4 |
12 | g.49950852G= | CA2035390243 | AQP2 | c.22G= (p.Ala8=)
| |
12 | g.49950852G>T | CA384771425 | AQP2 | c.22G>T (p.Ala8Ser)
| gnomAD v4 |
12 | g.49950853C>A | CA384771431 | AQP2 | c.23C>A (p.Ala8Asp)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49950853C= | CA2035390246 | AQP2 | c.23C= (p.Ala8=)
| |
12 | g.49950853C>G | CA384771429 | AQP2 | c.23C>G (p.Ala8Gly)
| |
12 | g.49950853C>T | CA384771428 | AQP2 | c.23C>T (p.Ala8Val)
| |
12 | g.49950854C>A | CA479583530 | AQP2 | c.24C>A (p.Ala8=)
| |
12 | g.49950854C= | CA2035390248 | AQP2 | c.24C= (p.Ala8=)
| |
12 | g.49950854C>G | CA479583533 | AQP2 | c.24C>G (p.Ala8=)
| ClinVar |
12 | g.49950854C>T | CA479583531 | AQP2 | c.24C>T (p.Ala8=)
| ClinVar dbSNP gnomAD v4 |
12 | g.49950855T>A | CA384771436 | AQP2 | c.25T>A (p.Phe9Ile)
| |
12 | g.49950855T>C | CA384771433 | AQP2 | c.25T>C (p.Phe9Leu)
| |
12 | g.49950855T>G | CA384771435 | AQP2 | c.25T>G (p.Phe9Val)
| |
12 | g.49950856T>A | CA384771438 | AQP2 | c.26T>A (p.Phe9Tyr)
| |
12 | g.49950856T>C | CA384771440 | AQP2 | c.26T>C (p.Phe9Ser)
| dbSNP |
12 | g.49950856T>G | CA384771441 | AQP2 | c.26T>G (p.Phe9Cys)
| |
12 | g.49950856T= | CA2035390252 | AQP2 | c.26T= (p.Phe9=)
| |
12 | g.49950857C>A | CA384771443 | AQP2 | c.27C>A (p.Phe9Leu)
| |
12 | g.49950857C= | CA2035390256 | AQP2 | c.27C= (p.Phe9=)
| |
12 | g.49950857C>G | CA384771445 | AQP2 | c.27C>G (p.Phe9Leu)
| |
12 | g.49950857C>T | CA6559127 | AQP2 | c.27C>T (p.Phe9=)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.49950858T>A | CA384771448 | AQP2 | c.28T>A (p.Ser10Thr)
| |
12 | g.49950858T>C | CA384771449 | AQP2 | c.28T>C (p.Ser10Pro)
| |
12 | g.49950858T>G | CA384771450 | AQP2 | c.28T>G (p.Ser10Ala)
| |
12 | g.49950859C>A | CA384771453 | AQP2 | c.29C>A (p.Ser10Tyr)
| |
12 | g.49950859C>G | CA384771454 | AQP2 | c.29C>G (p.Ser10Cys)
| |
12 | g.49950859C>T | CA384771456 | AQP2 | c.29C>T (p.Ser10Phe)
| gnomAD v4 |
12 | g.49950860C>A | CA479583558 | AQP2 | c.30C>A (p.Ser10=)
| |
12 | g.49950860C= | CA2035390260 | AQP2 | c.30C= (p.Ser10=)
| |
12 | g.49950860C>G | CA479583563 | AQP2 | c.30C>G (p.Ser10=)
| |
12 | g.49950860C>T | CA6559128 | AQP2 | c.30C>T (p.Ser10=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49950861A>C | CA479583565 | AQP2 | c.31A>C (p.Arg11=)
| |
12 | g.49950861A>G | CA384771459 | AQP2 | c.31A>G (p.Arg11Gly)
| |
12 | g.49950861A>T | CA384771461 | AQP2 | c.31A>T (p.Arg11Trp)
| |
12 | g.49950862G>A | CA6559129 | AQP2 | c.32G>A (p.Arg11Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950862G>C | CA384771464 | AQP2 | c.32G>C (p.Arg11Thr)
| |
12 | g.49950862G= | CA2035390267 | AQP2 | c.32G= (p.Arg11=)
| |
12 | g.49950862G>T | CA384771466 | AQP2 | c.32G>T (p.Arg11Met)
| |
12 | g.49950863G>A | CA479583575 | AQP2 | c.33G>A (p.Arg11=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950863G>C | CA384771468 | AQP2 | c.33G>C (p.Arg11Ser)
| |
12 | g.49950863G= | CA2035390270 | AQP2 | c.33G= (p.Arg11=)
| |
12 | g.49950863G>T | CA384771469 | AQP2 | c.33G>T (p.Arg11Ser)
| |
12 | g.49950864G>A | CA384771471 | AQP2 | c.34G>A (p.Ala12Thr)
| dbSNP gnomAD v4 |
12 | g.49950864G>C | CA384771473 | AQP2 | c.34G>C (p.Ala12Pro)
| |
12 | g.49950864G= | CA2035390274 | AQP2 | c.34G= (p.Ala12=)
| |
12 | g.49950864G>T | CA384771474 | AQP2 | c.34G>T (p.Ala12Ser)
| gnomAD v4 |
12 | g.49950865C>A | CA384771476 | AQP2 | c.35C>A (p.Ala12Asp)
| |
12 | g.49950865C>G | CA384771478 | AQP2 | c.35C>G (p.Ala12Gly)
| |
12 | g.49950865C>T | CA384771480 | AQP2 | c.35C>T (p.Ala12Val)
| |
12 | g.49950866T>A | CA479583585 | AQP2 | c.36T>A (p.Ala12=)
| |
12 | g.49950866T>C | CA479583586 | AQP2 | c.36T>C (p.Ala12=)
| |
12 | g.49950866T>G | CA479583588 | AQP2 | c.36T>G (p.Ala12=)
| gnomAD v4 |
12 | g.49950867G>A | CA384771483 | AQP2 | c.37G>A (p.Val13Met)
| |
12 | g.49950867G>C | CA384771485 | AQP2 | c.37G>C (p.Val13Leu)
| |
12 | g.49950867G>T | CA384771482 | AQP2 | c.37G>T (p.Val13Leu)
| |
12 | g.49950868T>A | CA384771486 | AQP2 | c.38T>A (p.Val13Glu)
| |
12 | g.49950868T>C | CA384771490 | AQP2 | c.38T>C (p.Val13Ala)
| |
12 | g.49950868T>G | CA384771487 | AQP2 | c.38T>G (p.Val13Gly)
| |
12 | g.49950869G>A | CA6559130 | AQP2 | c.39G>A (p.Val13=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49950869G>C | CA479583595 | AQP2 | c.39G>C (p.Val13=)
| |
12 | g.49950869G= | CA2035390278 | AQP2 | c.39G= (p.Val13=)
| |
12 | g.49950869G>T | CA479583597 | AQP2 | c.39G>T (p.Val13=)
| |
12 | g.49950870T>A | CA384771492 | AQP2 | c.40T>A (p.Phe14Ile)
| gnomAD v4 |
12 | g.49950870T>C | CA384771494 | AQP2 | c.40T>C (p.Phe14Leu)
| |
12 | g.49950870T>G | CA384771496 | AQP2 | c.40T>G (p.Phe14Val)
| |
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.49950887del | CA2842437303 | AQP2 | c.57del (p.Thr20HisfsTer?)
| |
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 |