Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.49950818A=CA2035390174AQP2c.-13A= (n.-13A=)
12g.49950818A>GCA604909794AQP2c.-13A>G (n.-13A>G)
dbSNP gnomAD v2
12g.49950819G>TCA654734774AQP2c.-12G>T (n.-12G>T)
gnomAD v4 COSMIC
12g.49950820G>ACA2618690622AQP2c.-11G>A (n.-11G>A)
gnomAD v4
12g.49950821G>ACA6559120AQP2c.-10G>A (n.-10G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950821G>CCA604909795AQP2c.-10G>C (n.-10G>C)
dbSNP gnomAD v2 gnomAD v4
12g.49950821G=CA2035390179AQP2c.-10G= (n.-10G=)
12g.49950822C=CA2035390183AQP2c.-9C= (n.-9C=)
12g.49950822C>TCA236730866AQP2c.-9C>T (n.-9C>T)
dbSNP gnomAD v3 gnomAD v4
12g.49950825T>CCA2618690633AQP2c.-6T>C (n.-6T>C)
gnomAD v4
12g.49950826G>ACA2575150909AQP2c.-5G>A (n.-5G>A)
gnomAD v4
12g.49950827C=CA2035390186AQP2c.-4C= (n.-4C=)
12g.49950827C>TCA689625520AQP2c.-4C>T (n.-4C>T)
dbSNP
12g.49950829G>ACA6559121AQP2c.-2G>A (n.-2G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950829G=CA2035390187AQP2c.-2G= (n.-2G=)
12g.49950830C>TCA2618690639AQP2c.-1C>T (n.-1C>T)
gnomAD v4
12g.49950831A>CCA384771335AQP2c.1A>C (p.Met1Leu)
12g.49950831A>GCA384771337AQP2c.1A>G (p.Met1Val)
12g.49950831A>TCA384771338AQP2c.1A>T (p.Met1Leu)
12g.49950832T>ACA384771340AQP2c.2T>A (p.Met1Lys)
12g.49950832T>CCA384771341AQP2c.2T>C (p.Met1Thr)
12g.49950832T>GCA384771343AQP2c.2T>G (p.Met1Arg)
12g.49950833G>ACA384771349AQP2c.3G>A (p.Met1Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49950833G>CCA384771346AQP2c.3G>C (p.Met1Ile)
12g.49950833G=CA2035390189AQP2c.3G= (p.Met1=)
12g.49950833G>TCA384771345AQP2c.3G>T (p.Met1Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.49950834T>ACA384771351AQP2c.4T>A (p.Trp2Arg)
12g.49950834T>CCA384771352AQP2c.4T>C (p.Trp2Arg)
12g.49950834T>GCA384771353AQP2c.4T>G (p.Trp2Gly)
12g.49950835G>ACA384771354AQP2c.5G>A (p.Trp2Ter)
dbSNP gnomAD v2
12g.49950835G>CCA384771355AQP2c.5G>C (p.Trp2Ser)
dbSNP gnomAD v2 gnomAD v4
12g.49950835G=CA2035390194AQP2c.5G= (p.Trp2=)
12g.49950835G>TCA384771356AQP2c.5G>T (p.Trp2Leu)
12g.49950837_49950864delCA2695216831AQP2c.7_34del (p.Glu3LeufsTer?)
12g.49950836G>ACA384771357AQP2c.6G>A (p.Trp2Ter)
gnomAD v4
12g.49950836G>CCA384771358AQP2c.6G>C (p.Trp2Cys)
12g.49950836G>TCA384771360AQP2c.6G>T (p.Trp2Cys)
12g.49950837G>ACA6559122AQP2c.7G>A (p.Glu3Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950837G>CCA384771364AQP2c.7G>C (p.Glu3Gln)
gnomAD v4
12g.49950837G=CA2035390200AQP2c.7G= (p.Glu3=)
12g.49950837G>TCA384771365AQP2c.7G>T (p.Glu3Ter)
COSMIC
12g.49950838A>CCA384771367AQP2c.8A>C (p.Glu3Ala)
12g.49950838A>GCA384771371AQP2c.8A>G (p.Glu3Gly)
12g.49950838A>TCA384771369AQP2c.8A>T (p.Glu3Val)
12g.49950839G>ACA6559123AQP2c.9G>A (p.Glu3=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950839G>CCA384771376AQP2c.9G>C (p.Glu3Asp)
12g.49950839G=CA2035390204AQP2c.9G= (p.Glu3=)
12g.49950839G>TCA384771374AQP2c.9G>T (p.Glu3Asp)
12g.49950840C>ACA384771378AQP2c.10C>A (p.Leu4Ile)
12g.49950840C=CA2035390211AQP2c.10C= (p.Leu4=)
12g.49950840C>GCA384771380AQP2c.10C>G (p.Leu4Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49950840C>TCA384771379AQP2c.10C>T (p.Leu4Phe)
12g.49950841T>ACA384771382AQP2c.11T>A (p.Leu4His)
12g.49950841T>CCA236730931AQP2c.11T>C (p.Leu4Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49950841T>GCA384771385AQP2c.11T>G (p.Leu4Arg)
12g.49950841T=CA2035390214AQP2c.11T= (p.Leu4=)
12g.49950842C>ACA479583475AQP2c.12C>A (p.Leu4=)
12g.49950842C>GCA479583477AQP2c.12C>G (p.Leu4=)
12g.49950842C>TCA479583480AQP2c.12C>T (p.Leu4=)
12g.49950843C>ACA384771387AQP2c.13C>A (p.Arg5Ser)
12g.49950843C=CA2035390217AQP2c.13C= (p.Arg5=)
12g.49950843C>GCA384771388AQP2c.13C>G (p.Arg5Gly)
12g.49950843C>TCA6559124AQP2c.13C>T (p.Arg5Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49950844G>ACA6559125AQP2c.14G>A (p.Arg5His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49950844G>CCA384771391AQP2c.14G>C (p.Arg5Pro)
12g.49950844G=CA2035390224AQP2c.14G= (p.Arg5=)
12g.49950844G>TCA384771392AQP2c.14G>T (p.Arg5Leu)
12g.49950845C>ACA479583492AQP2c.15C>A (p.Arg5=)
dbSNP gnomAD v2 gnomAD v4
12g.49950845C=CA2035390231AQP2c.15C= (p.Arg5=)
12g.49950845C>GCA479583494AQP2c.15C>G (p.Arg5=)
12g.49950845C>TCA6559126AQP2c.15C>T (p.Arg5=)
dbSNP ExAC gnomAD v2 COSMIC
12g.49950846T>ACA384771395AQP2c.16T>A (p.Ser6Thr)
12g.49950846T>CCA384771397AQP2c.16T>C (p.Ser6Pro)
gnomAD v4
12g.49950846T>GCA384771399AQP2c.16T>G (p.Ser6Ala)
12g.49950847C>ACA384771401AQP2c.17C>A (p.Ser6Tyr)
12g.49950847C>GCA384771404AQP2c.17C>G (p.Ser6Cys)
12g.49950847C>TCA384771402AQP2c.17C>T (p.Ser6Phe)
gnomAD v4
12g.49950848C>ACA479583505AQP2c.18C>A (p.Ser6=)
12g.49950848C>GCA479583507AQP2c.18C>G (p.Ser6=)
12g.49950848C>TCA479583509AQP2c.18C>T (p.Ser6=)
12g.49950849A=CA2035390237AQP2c.19A= (p.Ile7=)
12g.49950849A>CCA384771406AQP2c.19A>C (p.Ile7Leu)
12g.49950849A>GCA384771408AQP2c.19A>G (p.Ile7Val)
dbSNP gnomAD v3 gnomAD v4
12g.49950849A>TCA384771411AQP2c.19A>T (p.Ile7Leu)
12g.49950850T>ACA384771413AQP2c.20T>A (p.Ile7Lys)
12g.49950850T>CCA384771415AQP2c.20T>C (p.Ile7Thr)
ClinVar dbSNP gnomAD v4
12g.49950850T>GCA384771417AQP2c.20T>G (p.Ile7Arg)
12g.49950850T=CA2035390240AQP2c.20T= (p.Ile7=)
12g.49950851A>CCA479583520AQP2c.21A>C (p.Ile7=)
12g.49950851A>GCA384771419AQP2c.21A>G (p.Ile7Met)
12g.49950851A>TCA479583523AQP2c.21A>T (p.Ile7=)
12g.49950852G>ACA384771422AQP2c.22G>A (p.Ala8Thr)
dbSNP gnomAD v2 gnomAD v4
12g.49950852G>CCA384771423AQP2c.22G>C (p.Ala8Pro)
gnomAD v4
12g.49950852G=CA2035390243AQP2c.22G= (p.Ala8=)
12g.49950852G>TCA384771425AQP2c.22G>T (p.Ala8Ser)
gnomAD v4
12g.49950853C>ACA384771431AQP2c.23C>A (p.Ala8Asp)
dbSNP gnomAD v2 gnomAD v4
12g.49950853C=CA2035390246AQP2c.23C= (p.Ala8=)
12g.49950853C>GCA384771429AQP2c.23C>G (p.Ala8Gly)
12g.49950853C>TCA384771428AQP2c.23C>T (p.Ala8Val)
12g.49950854C>ACA479583530AQP2c.24C>A (p.Ala8=)
12g.49950854C=CA2035390248AQP2c.24C= (p.Ala8=)
12g.49950854C>GCA479583533AQP2c.24C>G (p.Ala8=)
ClinVar
12g.49950854C>TCA479583531AQP2c.24C>T (p.Ala8=)
ClinVar dbSNP gnomAD v4
12g.49950855T>ACA384771436AQP2c.25T>A (p.Phe9Ile)
12g.49950855T>CCA384771433AQP2c.25T>C (p.Phe9Leu)
12g.49950855T>GCA384771435AQP2c.25T>G (p.Phe9Val)
12g.49950856T>ACA384771438AQP2c.26T>A (p.Phe9Tyr)
12g.49950856T>CCA384771440AQP2c.26T>C (p.Phe9Ser)
dbSNP
12g.49950856T>GCA384771441AQP2c.26T>G (p.Phe9Cys)
12g.49950856T=CA2035390252AQP2c.26T= (p.Phe9=)
12g.49950857C>ACA384771443AQP2c.27C>A (p.Phe9Leu)
12g.49950857C=CA2035390256AQP2c.27C= (p.Phe9=)
12g.49950857C>GCA384771445AQP2c.27C>G (p.Phe9Leu)
12g.49950857C>TCA6559127AQP2c.27C>T (p.Phe9=)
dbSNP ExAC gnomAD v3 gnomAD v4
12g.49950858T>ACA384771448AQP2c.28T>A (p.Ser10Thr)
12g.49950858T>CCA384771449AQP2c.28T>C (p.Ser10Pro)
12g.49950858T>GCA384771450AQP2c.28T>G (p.Ser10Ala)
12g.49950859C>ACA384771453AQP2c.29C>A (p.Ser10Tyr)
12g.49950859C>GCA384771454AQP2c.29C>G (p.Ser10Cys)
12g.49950859C>TCA384771456AQP2c.29C>T (p.Ser10Phe)
gnomAD v4
12g.49950860C>ACA479583558AQP2c.30C>A (p.Ser10=)
12g.49950860C=CA2035390260AQP2c.30C= (p.Ser10=)
12g.49950860C>GCA479583563AQP2c.30C>G (p.Ser10=)
12g.49950860C>TCA6559128AQP2c.30C>T (p.Ser10=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950861A>CCA479583565AQP2c.31A>C (p.Arg11=)
12g.49950861A>GCA384771459AQP2c.31A>G (p.Arg11Gly)
12g.49950861A>TCA384771461AQP2c.31A>T (p.Arg11Trp)
12g.49950862G>ACA6559129AQP2c.32G>A (p.Arg11Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49950862G>CCA384771464AQP2c.32G>C (p.Arg11Thr)
12g.49950862G=CA2035390267AQP2c.32G= (p.Arg11=)
12g.49950862G>TCA384771466AQP2c.32G>T (p.Arg11Met)
12g.49950863G>ACA479583575AQP2c.33G>A (p.Arg11=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49950863G>CCA384771468AQP2c.33G>C (p.Arg11Ser)
12g.49950863G=CA2035390270AQP2c.33G= (p.Arg11=)
12g.49950863G>TCA384771469AQP2c.33G>T (p.Arg11Ser)
12g.49950864G>ACA384771471AQP2c.34G>A (p.Ala12Thr)
dbSNP gnomAD v4
12g.49950864G>CCA384771473AQP2c.34G>C (p.Ala12Pro)
12g.49950864G=CA2035390274AQP2c.34G= (p.Ala12=)
12g.49950864G>TCA384771474AQP2c.34G>T (p.Ala12Ser)
gnomAD v4
12g.49950865C>ACA384771476AQP2c.35C>A (p.Ala12Asp)
12g.49950865C>GCA384771478AQP2c.35C>G (p.Ala12Gly)
12g.49950865C>TCA384771480AQP2c.35C>T (p.Ala12Val)
12g.49950866T>ACA479583585AQP2c.36T>A (p.Ala12=)
12g.49950866T>CCA479583586AQP2c.36T>C (p.Ala12=)
12g.49950866T>GCA479583588AQP2c.36T>G (p.Ala12=)
gnomAD v4
12g.49950867G>ACA384771483AQP2c.37G>A (p.Val13Met)
12g.49950867G>CCA384771485AQP2c.37G>C (p.Val13Leu)
12g.49950867G>TCA384771482AQP2c.37G>T (p.Val13Leu)
12g.49950868T>ACA384771486AQP2c.38T>A (p.Val13Glu)
12g.49950868T>CCA384771490AQP2c.38T>C (p.Val13Ala)
12g.49950868T>GCA384771487AQP2c.38T>G (p.Val13Gly)
12g.49950869G>ACA6559130AQP2c.39G>A (p.Val13=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49950869G>CCA479583595AQP2c.39G>C (p.Val13=)
12g.49950869G=CA2035390278AQP2c.39G= (p.Val13=)
12g.49950869G>TCA479583597AQP2c.39G>T (p.Val13=)
12g.49950870T>ACA384771492AQP2c.40T>A (p.Phe14Ile)
gnomAD v4
12g.49950870T>CCA384771494AQP2c.40T>C (p.Phe14Leu)
12g.49950870T>GCA384771496AQP2c.40T>G (p.Phe14Val)
12g.49950871T>ACA384771498AQP2c.41T>A (p.Phe14Tyr)
12g.49950871T>CCA384771499AQP2c.41T>C (p.Phe14Ser)
12g.49950871T>GCA384771501AQP2c.41T>G (p.Phe14Cys)
12g.49950872C>ACA384771504AQP2c.42C>A (p.Phe14Leu)
dbSNP gnomAD v2 gnomAD v4
12g.49950872C=CA2035390286AQP2c.42C= (p.Phe14=)
12g.49950872C>GCA384771505AQP2c.42C>G (p.Phe14Leu)
gnomAD v4
12g.49950872C>TCA6559131AQP2c.42C>T (p.Phe14=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49950873G>ACA6559132AQP2c.43G>A (p.Ala15Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49950873G>CCA384771510AQP2c.43G>C (p.Ala15Pro)
12g.49950873G=CA2035390291AQP2c.43G= (p.Ala15=)
12g.49950873G>TCA384771509AQP2c.43G>T (p.Ala15Ser)
gnomAD v4
12g.49950874C>ACA384771512AQP2c.44C>A (p.Ala15Glu)
12g.49950874C>GCA384771513AQP2c.44C>G (p.Ala15Gly)
12g.49950874C>TCA384771515AQP2c.44C>T (p.Ala15Val)
12g.49950875A>CCA479583614AQP2c.45A>C (p.Ala15=)
12g.49950875A>GCA479583616AQP2c.45A>G (p.Ala15=)
ClinVar
12g.49950875A>TCA479583618AQP2c.45A>T (p.Ala15=)
12g.49950876G>ACA384771516AQP2c.46G>A (p.Glu16Lys)
12g.49950876G>CCA384771518AQP2c.46G>C (p.Glu16Gln)
12g.49950876G>TCA384771520AQP2c.46G>T (p.Glu16Ter)
12g.49950877A>CCA384771522AQP2c.47A>C (p.Glu16Ala)
12g.49950877A>GCA384771523AQP2c.47A>G (p.Glu16Gly)
gnomAD v4
12g.49950877A>TCA384771525AQP2c.47A>T (p.Glu16Val)
12g.49950878G>ACA479583624AQP2c.48G>A (p.Glu16=)
dbSNP
12g.49950878G>CCA384771527AQP2c.48G>C (p.Glu16Asp)
12g.49950878G=CA2035390294AQP2c.48G= (p.Glu16=)
12g.49950878G>TCA384771528AQP2c.48G>T (p.Glu16Asp)
12g.49950879T>ACA384771531AQP2c.49T>A (p.Phe17Ile)
12g.49950879T>CCA6559133AQP2c.49T>C (p.Phe17Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950879T>GCA384771530AQP2c.49T>G (p.Phe17Val)
12g.49950879T=CA2035390297AQP2c.49T= (p.Phe17=)
12g.49950880T>ACA384771534AQP2c.50T>A (p.Phe17Tyr)
12g.49950880T>CCA384771536AQP2c.50T>C (p.Phe17Ser)
12g.49950880T>GCA384771538AQP2c.50T>G (p.Phe17Cys)
12g.49950881C>ACA384771541AQP2c.51C>A (p.Phe17Leu)
12g.49950881C=CA2035390298AQP2c.51C= (p.Phe17=)
12g.49950881C>GCA384771542AQP2c.51C>G (p.Phe17Leu)
12g.49950881C>TCA236731027AQP2c.51C>T (p.Phe17=)
ClinVar dbSNP
12g.49950882C>ACA384771545AQP2c.52C>A (p.Leu18Met)
12g.49950882C>GCA384771547AQP2c.52C>G (p.Leu18Val)
12g.49950882C>TCA479583638AQP2c.52C>T (p.Leu18=)
12g.49950883T>ACA384771549AQP2c.53T>A (p.Leu18Gln)
12g.49950883T>CCA384771551AQP2c.53T>C (p.Leu18Pro)
12g.49950883T>GCA384771552AQP2c.53T>G (p.Leu18Arg)
dbSNP gnomAD v4
12g.49950883T=CA2035390301AQP2c.53T= (p.Leu18=)
12g.49950884G>ACA479583642AQP2c.54G>A (p.Leu18=)
12g.49950884G>CCA479583643AQP2c.54G>C (p.Leu18=)
12g.49950884G>TCA479583644AQP2c.54G>T (p.Leu18=)
12g.49950885G>ACA6559134AQP2c.55G>A (p.Ala19Thr)
dbSNP ExAC gnomAD v2
12g.49950885G>CCA384771557AQP2c.55G>C (p.Ala19Pro)
12g.49950885G=CA2035390303AQP2c.55G= (p.Ala19=)
12g.49950885G>TCA384771555AQP2c.55G>T (p.Ala19Ser)
gnomAD v4
12g.49950886C>ACA384771560AQP2c.56C>A (p.Ala19Asp)
12g.49950886C=CA2035390306AQP2c.56C= (p.Ala19=)
12g.49950886C>GCA384771561AQP2c.56C>G (p.Ala19Gly)
12g.49950886C>TCA384771563AQP2c.56C>T (p.Ala19Val)
dbSNP
12g.49950887C>ACA479583651AQP2c.57C>A (p.Ala19=)
12g.49950887C>GCA479583653AQP2c.57C>G (p.Ala19=)
12g.49950887C>TCA479583654AQP2c.57C>T (p.Ala19=)
12g.49950890_49950891dupCA2035390313AQP2c.60_61dup (p.Leu21HisfsTer?)
dbSNP gnomAD v4
12g.49950890_49950891delCA2618690747AQP2c.60_61del (p.Leu21ProfsTer?)
gnomAD v4
12g.49950888A>CCA384771565AQP2c.58A>C (p.Thr20Pro)
12g.49950888A>GCA384771567AQP2c.58A>G (p.Thr20Ala)
gnomAD v4
12g.49950888A>TCA384771568AQP2c.58A>T (p.Thr20Ser)
12g.49950889C>ACA384771569AQP2c.59C>A (p.Thr20Lys)
12g.49950889C=CA2035390316AQP2c.59C= (p.Thr20=)
12g.49950889C>GCA384771572AQP2c.59C>G (p.Thr20Arg)
12g.49950889C>TCA384771571AQP2c.59C>T (p.Thr20Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49950890A>CCA479583663AQP2c.60A>C (p.Thr20=)
ClinVar
12g.49950890A>GCA479583664AQP2c.60A>G (p.Thr20=)
ClinVar
12g.49950890A>TCA479583662AQP2c.60A>T (p.Thr20=)
gnomAD v4
12g.49950890_49950893delinsACTCCA2035390318AQP2c.60_63delinsACTC (p.Thr20=)
12g.49950891C>ACA384771574AQP2c.61C>A (p.Leu21Ile)
12g.49950891C=CA2035390326AQP2c.61C= (p.Leu21=)
12g.49950891C>GCA6559135AQP2c.61C>G (p.Leu21Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950891C>TCA6559136AQP2c.61C>T (p.Leu21Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950894_49950896delCA236731047AQP2c.64_66del (p.Leu22del)
dbSNP
12g.49950892T>ACA384771582AQP2c.62T>A (p.Leu21His)
12g.49950892T>CCA384771580AQP2c.62T>C (p.Leu21Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49950892T>GCA384771578AQP2c.62T>G (p.Leu21Arg)
12g.49950892T=CA2035390331AQP2c.62T= (p.Leu21=)
12g.49950893C>ACA479583674AQP2c.63C>A (p.Leu21=)
dbSNP
12g.49950893C=CA2035390334AQP2c.63C= (p.Leu21=)
12g.49950893C>GCA479583675AQP2c.63C>G (p.Leu21=)
ClinVar dbSNP gnomAD v4
12g.49950893C>TCA6559137AQP2c.63C>T (p.Leu21=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950894C>ACA384771585AQP2c.64C>A (p.Leu22Ile)
COSMIC
12g.49950894C=CA2035390344AQP2c.64C= (p.Leu22=)
12g.49950894C>GCA127482AQP2c.64C>G (p.Leu22Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49950894C>TCA384771587AQP2c.64C>T (p.Leu22Phe)
12g.49950895delCA2618690775AQP2c.65del (p.Leu22ProfsTer?)
gnomAD v4
12g.49950895T>ACA384771590AQP2c.65T>A (p.Leu22His)
12g.49950895T>CCA384771591AQP2c.65T>C (p.Leu22Pro)
12g.49950895T>GCA384771593AQP2c.65T>G (p.Leu22Arg)
12g.49950896C>ACA479583684AQP2c.66C>A (p.Leu22=)
12g.49950896C>GCA479583685AQP2c.66C>G (p.Leu22=)
gnomAD v4
12g.49950896C>TCA479583687AQP2c.66C>T (p.Leu22=)
12g.49950897T>ACA384771595AQP2c.67T>A (p.Phe23Ile)
12g.49950897T>CCA384771597AQP2c.67T>C (p.Phe23Leu)
dbSNP gnomAD v3 gnomAD v4
12g.49950897T>GCA384771599AQP2c.67T>G (p.Phe23Val)
12g.49950897T=CA2035390347AQP2c.67T= (p.Phe23=)
12g.49950898T>ACA384771600AQP2c.68T>A (p.Phe23Tyr)
12g.49950898T>CCA384771601AQP2c.68T>C (p.Phe23Ser)
12g.49950898T>GCA384771603AQP2c.68T>G (p.Phe23Cys)
12g.49950899C>ACA384771607AQP2c.69C>A (p.Phe23Leu)
12g.49950899C=CA2035390350AQP2c.69C= (p.Phe23=)
12g.49950899C>GCA384771605AQP2c.69C>G (p.Phe23Leu)
12g.49950899C>TCA6559138AQP2c.69C>T (p.Phe23=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49950900G>ACA6559139AQP2c.70G>A (p.Val24Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49950900G>CCA384771610AQP2c.70G>C (p.Val24Leu)
12g.49950900G=CA2035390353AQP2c.70G= (p.Val24=)
12g.49950900G>TCA384771612AQP2c.70G>T (p.Val24Phe)
12g.49950901T>ACA384771614AQP2c.71T>A (p.Val24Asp)
12g.49950901T>CCA384771616AQP2c.71T>C (p.Val24Ala)
12g.49950901T>GCA384771618AQP2c.71T>G (p.Val24Gly)
12g.49950902C>ACA479583701AQP2c.72C>A (p.Val24=)
12g.49950902C>GCA479583702AQP2c.72C>G (p.Val24=)
gnomAD v4
12g.49950902C>TCA479583703AQP2c.72C>T (p.Val24=)
12g.49950903T>ACA384771620AQP2c.73T>A (p.Phe25Ile)
12g.49950903T>CCA384771622AQP2c.73T>C (p.Phe25Leu)
12g.49950903T>GCA384771624AQP2c.73T>G (p.Phe25Val)
COSMIC
12g.49950904T>ACA384771626AQP2c.74T>A (p.Phe25Tyr)
12g.49950904T>CCA384771627AQP2c.74T>C (p.Phe25Ser)
12g.49950904T>GCA384771629AQP2c.74T>G (p.Phe25Cys)
12g.49950905C>ACA384771631AQP2c.75C>A (p.Phe25Leu)
12g.49950905C>GCA384771632AQP2c.75C>G (p.Phe25Leu)
12g.49950905C>TCA479583709AQP2c.75C>T (p.Phe25=)
12g.49950906T>ACA384771639AQP2c.76T>A (p.Phe26Ile)
12g.49950906T>CCA384771636AQP2c.76T>C (p.Phe26Leu)
12g.49950906T>GCA384771634AQP2c.76T>G (p.Phe26Val)
12g.49950907T>ACA384771640AQP2c.77T>A (p.Phe26Tyr)
12g.49950907T>CCA384771641AQP2c.77T>C (p.Phe26Ser)
12g.49950907T>GCA384771643AQP2c.77T>G (p.Phe26Cys)
12g.49950908T>ACA384771645AQP2c.78T>A (p.Phe26Leu)
12g.49950908T>CCA6559140AQP2c.78T>C (p.Phe26=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.49950908T>GCA384771647AQP2c.78T>G (p.Phe26Leu)
12g.49950908T=CA2035390358AQP2c.78T= (p.Phe26=)
12g.49950909G>ACA384771652AQP2c.79G>A (p.Gly27Ser)
12g.49950909G>CCA6559141AQP2c.79G>C (p.Gly27Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.49950909G=CA2035390363AQP2c.79G= (p.Gly27=)
12g.49950909G>TCA384771649AQP2c.79G>T (p.Gly27Cys)
12g.49950910G>ACA384771654AQP2c.80G>A (p.Gly27Asp)
12g.49950910G>CCA384771656AQP2c.80G>C (p.Gly27Ala)
12g.49950910G>TCA384771658AQP2c.80G>T (p.Gly27Val)
12g.49950911C>ACA479583730AQP2c.81C>A (p.Gly27=)
12g.49950911C>GCA479583726AQP2c.81C>G (p.Gly27=)
12g.49950911C>TCA479583728AQP2c.81C>T (p.Gly27=)
12g.49950912C>ACA384771659AQP2c.82C>A (p.Leu28Ile)
dbSNP gnomAD v4
12g.49950912C=CA2035390368AQP2c.82C= (p.Leu28=)
12g.49950912C>GCA384771661AQP2c.82C>G (p.Leu28Val)
dbSNP
12g.49950912C>TCA384771663AQP2c.82C>T (p.Leu28Phe)
dbSNP gnomAD v2 gnomAD v4
12g.49950913T>ACA384771665AQP2c.83T>A (p.Leu28His)
dbSNP
12g.49950913T>CCA384771669AQP2c.83T>C (p.Leu28Pro)
12g.49950913T>GCA384771667AQP2c.83T>G (p.Leu28Arg)
12g.49950913T=CA2035390373AQP2c.83T= (p.Leu28=)
12g.49950914C>ACA479583736AQP2c.84C>A (p.Leu28=)
dbSNP
12g.49950914C=CA2035390379AQP2c.84C= (p.Leu28=)
12g.49950914C>GCA479583738AQP2c.84C>G (p.Leu28=)
12g.49950914C>TCA6559142AQP2c.84C>T (p.Leu28=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.49950915G>ACA236731096AQP2c.85G>A (p.Gly29Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.49950915G>CCA384771673AQP2c.85G>C (p.Gly29Arg)
12g.49950915G=CA2035390381AQP2c.85G= (p.Gly29=)
12g.49950915G>TCA384771674AQP2c.85G>T (p.Gly29Cys)
12g.49950916G>ACA384771677AQP2c.86G>A (p.Gly29Asp)
12g.49950916G>CCA384771679AQP2c.86G>C (p.Gly29Ala)
12g.49950916G>TCA384771680AQP2c.86G>T (p.Gly29Val)
gnomAD v4
12g.49950917C>ACA236731105AQP2c.87C>A (p.Gly29=)
dbSNP
12g.49950917C=CA2035390382AQP2c.87C= (p.Gly29=)
12g.49950917C>GCA479583748AQP2c.87C>G (p.Gly29=)
12g.49950917C>TCA479583751AQP2c.87C>T (p.Gly29=)
ClinVar gnomAD v4
12g.49950918T>ACA384771684AQP2c.88T>A (p.Ser30Thr)
12g.49950918T>CCA384771685AQP2c.88T>C (p.Ser30Pro)
gnomAD v4
12g.49950918T>GCA384771687AQP2c.88T>G (p.Ser30Ala)
12g.49950918_49950941delinsTCTGCCCTCAACTGGCCACAGGCCCA2035390385AQP2c.88_111delinsTCTGCCCTCAACTGGCCACAGGCC (p.Ser30=)

Number of alleles fetched