12 | g.49951088_49951111delinsCGCCTTCTACGTGGCTGCCCAGCT | CA2035390726 | AQP2 | c.258_281delinsCGCCTTCTACGTGGCTGCCCAGCT (p.Ala86=)
| |
12 | g.49951091_49951113del | CA689626206 | AQP2 | c.261_283del (p.Phe88GlyfsTer11)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951109G>A | CA479584213 | AQP2 | c.279G>A (p.Gln93=)
| |
12 | g.49951109G>C | CA384772249 | AQP2 | c.279G>C (p.Gln93His)
| gnomAD v4 |
12 | g.49951109G>T | CA384772250 | AQP2 | c.279G>T (p.Gln93His)
| |
12 | g.49951110C>A | CA384772251 | AQP2 | c.280C>A (p.Leu94Met)
| dbSNP gnomAD v2 |
12 | g.49951110C= | CA2035390774 | AQP2 | c.280C= (p.Leu94=)
| |
12 | g.49951110C>G | CA384772252 | AQP2 | c.280C>G (p.Leu94Val)
| gnomAD v4 |
12 | g.49951110C>T | CA479584215 | AQP2 | c.280C>T (p.Leu94=)
| |
12 | g.49951111T>A | CA384772253 | AQP2 | c.281T>A (p.Leu94Gln)
| |
12 | g.49951111T>C | CA384772254 | AQP2 | c.281T>C (p.Leu94Pro)
| |
12 | g.49951111T>G | CA384772255 | AQP2 | c.281T>G (p.Leu94Arg)
| |
12 | g.49951112G>A | CA479584218 | AQP2 | c.282G>A (p.Leu94=)
| |
12 | g.49951112G>C | CA479584219 | AQP2 | c.282G>C (p.Leu94=)
| gnomAD v4 |
12 | g.49951112G>T | CA479584220 | AQP2 | c.282G>T (p.Leu94=)
| |
12 | g.49951113C>A | CA384772256 | AQP2 | c.283C>A (p.Leu95Met)
| |
12 | g.49951113C= | CA2035390776 | AQP2 | c.283C= (p.Leu95=)
| |
12 | g.49951113C>G | CA384772257 | AQP2 | c.283C>G (p.Leu95Val)
| dbSNP |
12 | g.49951113C>T | CA479584221 | AQP2 | c.283C>T (p.Leu95=)
| |
12 | g.49951113_49951115delinsCTG | CA2035390777 | AQP2 | c.283_285delinsCTG (p.Leu95=)
| |
12 | g.49951114T>A | CA384772258 | AQP2 | c.284T>A (p.Leu95Gln)
| |
12 | g.49951114T>C | CA384772259 | AQP2 | c.284T>C (p.Leu95Pro)
| |
12 | g.49951114T>G | CA384772260 | AQP2 | c.284T>G (p.Leu95Arg)
| |
12 | g.49951114_49951115del | CA6559189 | AQP2 | c.284_285del (p.Leu95ArgfsTer11)
| dbSNP ExAC gnomAD v2 |
12 | g.49951115G>A | CA479584223 | AQP2 | c.285G>A (p.Leu95=)
| gnomAD v4 |
12 | g.49951115G>C | CA479584224 | AQP2 | c.285G>C (p.Leu95=)
| gnomAD v4 |
12 | g.49951115G>T | CA479584225 | AQP2 | c.285G>T (p.Leu95=)
| |
12 | g.49951119dup | CA2618691151 | AQP2 | c.289dup (p.Ala97GlyfsTer10)
| gnomAD v4 |
12 | g.49951119del | CA2795926928 | AQP2 | c.289del (p.Ala97LeufsTer?)
| |
12 | g.49951116G>A | CA384772262 | AQP2 | c.286G>A (p.Gly96Arg)
| |
12 | g.49951116G>C | CA384772263 | AQP2 | c.286G>C (p.Gly96Arg)
| |
12 | g.49951116G= | CA2035390781 | AQP2 | c.286G= (p.Gly96=)
| |
12 | g.49951116G>T | CA384772261 | AQP2 | c.286G>T (p.Gly96Trp)
| dbSNP gnomAD v2 |
12 | g.49951117G>A | CA384772266 | AQP2 | c.287G>A (p.Gly96Glu)
| ClinVar |
12 | g.49951117G>C | CA384772264 | AQP2 | c.287G>C (p.Gly96Ala)
| |
12 | g.49951117G>T | CA384772265 | AQP2 | c.287G>T (p.Gly96Val)
| |
12 | g.49951118G>A | CA479584227 | AQP2 | c.288G>A (p.Gly96=)
| |
12 | g.49951118G>C | CA479584228 | AQP2 | c.288G>C (p.Gly96=)
| gnomAD v4 |
12 | g.49951118G= | CA2035390783 | AQP2 | c.288G= (p.Gly96=)
| |
12 | g.49951118G>T | CA6559190 | AQP2 | c.288G>T (p.Gly96=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951119G>A | CA384772267 | AQP2 | c.289G>A (p.Ala97Thr)
| |
12 | g.49951119G>C | CA384772268 | AQP2 | c.289G>C (p.Ala97Pro)
| |
12 | g.49951119G>T | CA384772269 | AQP2 | c.289G>T (p.Ala97Ser)
| gnomAD v4 |
12 | g.49951120del | CA2618691158 | AQP2 | c.290del (p.Ala97ValfsTer?)
| gnomAD v4 |
12 | g.49951120C>A | CA384772270 | AQP2 | c.290C>A (p.Ala97Asp)
| |
12 | g.49951120C>G | CA384772271 | AQP2 | c.290C>G (p.Ala97Gly)
| |
12 | g.49951120C>T | CA384772272 | AQP2 | c.290C>T (p.Ala97Val)
| |
12 | g.49951121T>A | CA479584233 | AQP2 | c.291T>A (p.Ala97=)
| |
12 | g.49951121T>C | CA479584234 | AQP2 | c.291T>C (p.Ala97=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951121T>G | CA479584235 | AQP2 | c.291T>G (p.Ala97=)
| |
12 | g.49951121T= | CA2035390784 | AQP2 | c.291T= (p.Ala97=)
| |
12 | g.49951122G>A | CA6559191 | AQP2 | c.292G>A (p.Val98Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951122G>C | CA384772273 | AQP2 | c.292G>C (p.Val98Leu)
| |
12 | g.49951122G= | CA2035390786 | AQP2 | c.292G= (p.Val98=)
| |
12 | g.49951122G>T | CA6559192 | AQP2 | c.292G>T (p.Val98Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951123T>A | CA384772276 | AQP2 | c.293T>A (p.Val98Glu)
| |
12 | g.49951123T>C | CA384772274 | AQP2 | c.293T>C (p.Val98Ala)
| |
12 | g.49951123T>G | CA384772275 | AQP2 | c.293T>G (p.Val98Gly)
| |
12 | g.49951124G>A | CA479584241 | AQP2 | c.294G>A (p.Val98=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951124G>C | CA479584238 | AQP2 | c.294G>C (p.Val98=)
| |
12 | g.49951124G= | CA2035390790 | AQP2 | c.294G= (p.Val98=)
| |
12 | g.49951124G>T | CA479584240 | AQP2 | c.294G>T (p.Val98=)
| |
12 | g.49951125G>A | CA236731640 | AQP2 | c.295G>A (p.Ala99Thr)
| dbSNP gnomAD v4 |
12 | g.49951125G>C | CA384772277 | AQP2 | c.295G>C (p.Ala99Pro)
| |
12 | g.49951125G= | CA2035390793 | AQP2 | c.295G= (p.Ala99=)
| |
12 | g.49951125G>T | CA384772278 | AQP2 | c.295G>T (p.Ala99Ser)
| |
12 | g.49951126C>A | CA384772279 | AQP2 | c.296C>A (p.Ala99Asp)
| |
12 | g.49951126C>G | CA384772280 | AQP2 | c.296C>G (p.Ala99Gly)
| |
12 | g.49951126C>T | CA384772281 | AQP2 | c.296C>T (p.Ala99Val)
| gnomAD v4 |
12 | g.49951127C>A | CA479584242 | AQP2 | c.297C>A (p.Ala99=)
| ClinVar gnomAD v4 |
12 | g.49951127C= | CA2035390798 | AQP2 | c.297C= (p.Ala99=)
| |
12 | g.49951127C>G | CA236731655 | AQP2 | c.297C>G (p.Ala99=)
| ClinVar dbSNP gnomAD v4 |
12 | g.49951127C>T | CA479584245 | AQP2 | c.297C>T (p.Ala99=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.49951128G>A | CA384772282 | AQP2 | c.298G>A (p.Gly100Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.49951128G>C | CA384772283 | AQP2 | c.298G>C (p.Gly100Arg)
| |
12 | g.49951128G= | CA2035390800 | AQP2 | c.298G= (p.Gly100=)
| |
12 | g.49951128G>T | CA384772284 | AQP2 | c.298G>T (p.Gly100Ter)
| |
12 | g.49951129G>A | CA384772286 | AQP2 | c.299G>A (p.Gly100Glu)
| |
12 | g.49951129G>C | CA384772289 | AQP2 | c.299G>C (p.Gly100Ala)
| gnomAD v4 |
12 | g.49951129G= | CA2035390803 | AQP2 | c.299G= (p.Gly100=)
| |
12 | g.49951129G>T | CA127488 | AQP2 | c.299G>T (p.Gly100Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951130A= | CA2035390808 | AQP2 | c.300A= (p.Gly100=)
| |
12 | g.49951130A>C | CA479584248 | AQP2 | c.300A>C (p.Gly100=)
| |
12 | g.49951130A>G | CA479584247 | AQP2 | c.300A>G (p.Gly100=)
| dbSNP |
12 | g.49951130A>T | CA479584249 | AQP2 | c.300A>T (p.Gly100=)
| |
12 | g.49951131G>A | CA384772294 | AQP2 | c.301G>A (p.Ala101Thr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951131G>C | CA384772293 | AQP2 | c.301G>C (p.Ala101Pro)
| |
12 | g.49951131G= | CA2035390810 | AQP2 | c.301G= (p.Ala101=)
| |
12 | g.49951131G>T | CA384772291 | AQP2 | c.301G>T (p.Ala101Ser)
| |
12 | g.49951132C>A | CA384772301 | AQP2 | c.302C>A (p.Ala101Asp)
| |
12 | g.49951132C>G | CA384772296 | AQP2 | c.302C>G (p.Ala101Gly)
| |
12 | g.49951132C>T | CA384772298 | AQP2 | c.302C>T (p.Ala101Val)
| |
12 | g.49951133C>A | CA479584251 | AQP2 | c.303C>A (p.Ala101=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951133C= | CA2035390813 | AQP2 | c.303C= (p.Ala101=)
| |
12 | g.49951133C>G | CA479584252 | AQP2 | c.303C>G (p.Ala101=)
| ClinVar dbSNP gnomAD v4 |
12 | g.49951133C>T | CA6559193 | AQP2 | c.303C>T (p.Ala101=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951134G>A | CA6559195 | AQP2 | c.304G>A (p.Ala102Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951134G>C | CA384772305 | AQP2 | c.304G>C (p.Ala102Pro)
| gnomAD v4 |
12 | g.49951134G= | CA2035390817 | AQP2 | c.304G= (p.Ala102=)
| |
12 | g.49951134G>T | CA6559194 | AQP2 | c.304G>T (p.Ala102Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951135C>A | CA384772308 | AQP2 | c.305C>A (p.Ala102Asp)
| |
12 | g.49951135C>G | CA384772310 | AQP2 | c.305C>G (p.Ala102Gly)
| |
12 | g.49951135C>T | CA384772312 | AQP2 | c.305C>T (p.Ala102Val)
| |
12 | g.49951136T>A | CA479584255 | AQP2 | c.306T>A (p.Ala102=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951136T>C | CA479584256 | AQP2 | c.306T>C (p.Ala102=)
| |
12 | g.49951136T>G | CA479584257 | AQP2 | c.306T>G (p.Ala102=)
| |
12 | g.49951136T= | CA2035390821 | AQP2 | c.306T= (p.Ala102=)
| |
12 | g.49951137C>A | CA384772313 | AQP2 | c.307C>A (p.Leu103Met)
| |
12 | g.49951137C= | CA2035390823 | AQP2 | c.307C= (p.Leu103=)
| |
12 | g.49951137C>G | CA384772314 | AQP2 | c.307C>G (p.Leu103Val)
| gnomAD v4 |
12 | g.49951137C>T | CA479584258 | AQP2 | c.307C>T (p.Leu103=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951138T>A | CA384772317 | AQP2 | c.308T>A (p.Leu103Gln)
| |
12 | g.49951138T>C | CA384772319 | AQP2 | c.308T>C (p.Leu103Pro)
| |
12 | g.49951138T>G | CA384772320 | AQP2 | c.308T>G (p.Leu103Arg)
| |
12 | g.49951139G>A | CA479584259 | AQP2 | c.309G>A (p.Leu103=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951139G>C | CA479584260 | AQP2 | c.309G>C (p.Leu103=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951139G= | CA2035390825 | AQP2 | c.309G= (p.Leu103=)
| |
12 | g.49951139G>T | CA236731680 | AQP2 | c.309G>T (p.Leu103=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951140C>A | CA384772322 | AQP2 | c.310C>A (p.Leu104Ile)
| gnomAD v4 |
12 | g.49951140C>G | CA384772324 | AQP2 | c.310C>G (p.Leu104Val)
| |
12 | g.49951140C>T | CA384772326 | AQP2 | c.310C>T (p.Leu104Phe)
| |
12 | g.49951141T>A | CA384772327 | AQP2 | c.311T>A (p.Leu104His)
| |
12 | g.49951141T>C | CA384772329 | AQP2 | c.311T>C (p.Leu104Pro)
| |
12 | g.49951141T>G | CA384772331 | AQP2 | c.311T>G (p.Leu104Arg)
| |
12 | g.49951142C>A | CA479584262 | AQP2 | c.312C>A (p.Leu104=)
| |
12 | g.49951142C= | CA2035390827 | AQP2 | c.312C= (p.Leu104=)
| |
12 | g.49951142C>G | CA479584263 | AQP2 | c.312C>G (p.Leu104=)
| |
12 | g.49951142C>T | CA479584264 | AQP2 | c.312C>T (p.Leu104=)
| ClinVar dbSNP |
12 | g.49951143C>A | CA384772333 | AQP2 | c.313C>A (p.His105Asn)
| |
12 | g.49951143C>G | CA384772335 | AQP2 | c.313C>G (p.His105Asp)
| |
12 | g.49951143C>T | CA384772336 | AQP2 | c.313C>T (p.His105Tyr)
| |
12 | g.49951144A>C | CA384772338 | AQP2 | c.314A>C (p.His105Pro)
| |
12 | g.49951144A>G | CA384772339 | AQP2 | c.314A>G (p.His105Arg)
| gnomAD v4 |
12 | g.49951144A>T | CA384772341 | AQP2 | c.314A>T (p.His105Leu)
| |
12 | g.49951145T>A | CA384772343 | AQP2 | c.315T>A (p.His105Gln)
| |
12 | g.49951145T>C | CA479584267 | AQP2 | c.315T>C (p.His105=)
| ClinVar gnomAD v4 |
12 | g.49951145T>G | CA384772345 | AQP2 | c.315T>G (p.His105Gln)
| gnomAD v4 |
12 | g.49951146G>A | CA384772349 | AQP2 | c.316G>A (p.Glu106Lys)
| |
12 | g.49951146G>C | CA384772350 | AQP2 | c.316G>C (p.Glu106Gln)
| |
12 | g.49951146G>T | CA384772347 | AQP2 | c.316G>T (p.Glu106Ter)
| |
12 | g.49951147A>C | CA384772353 | AQP2 | c.317A>C (p.Glu106Ala)
| |
12 | g.49951147A>G | CA384772357 | AQP2 | c.317A>G (p.Glu106Gly)
| |
12 | g.49951147A>T | CA384772355 | AQP2 | c.317A>T (p.Glu106Val)
| |
12 | g.49951148G>A | CA479584270 | AQP2 | c.318G>A (p.Glu106=)
| |
12 | g.49951148G>C | CA384772358 | AQP2 | c.318G>C (p.Glu106Asp)
| |
12 | g.49951148G>T | CA384772360 | AQP2 | c.318G>T (p.Glu106Asp)
| |
12 | g.49951149A= | CA2035390830 | AQP2 | c.319A= (p.Ile107=)
| |
12 | g.49951149A>C | CA6559196 | AQP2 | c.319A>C (p.Ile107Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.49951149A>G | CA384772362 | AQP2 | c.319A>G (p.Ile107Val)
| |
12 | g.49951149A>T | CA384772364 | AQP2 | c.319A>T (p.Ile107Phe)
| |
12 | g.49951150T>A | CA384772366 | AQP2 | c.320T>A (p.Ile107Asn)
| |
12 | g.49951150T>C | CA384772367 | AQP2 | c.320T>C (p.Ile107Thr)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951150T>G | CA384772369 | AQP2 | c.320T>G (p.Ile107Ser)
| |
12 | g.49951150T= | CA2035390833 | AQP2 | c.320T= (p.Ile107=)
| |
12 | g.49951151C>A | CA479584275 | AQP2 | c.321C>A (p.Ile107=)
| |
12 | g.49951151C>G | CA384772371 | AQP2 | c.321C>G (p.Ile107Met)
| |
12 | g.49951151C>T | CA479584276 | AQP2 | c.321C>T (p.Ile107=)
| |
12 | g.49951152A>C | CA384772373 | AQP2 | c.322A>C (p.Thr108Pro)
| |
12 | g.49951152A>G | CA384772375 | AQP2 | c.322A>G (p.Thr108Ala)
| gnomAD v4 |
12 | g.49951152A>T | CA384772377 | AQP2 | c.322A>T (p.Thr108Ser)
| |
12 | g.49951153C>A | CA384772379 | AQP2 | c.323C>A (p.Thr108Lys)
| |
12 | g.49951153C= | CA2035390835 | AQP2 | c.323C= (p.Thr108=)
| |
12 | g.49951153C>G | CA384772383 | AQP2 | c.323C>G (p.Thr108Arg)
| |
12 | g.49951153C>T | CA384772381 | AQP2 | c.323C>T (p.Thr108Met)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951154G>A | CA6559197 | AQP2 | c.324G>A (p.Thr108=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.49951154G>C | CA479584280 | AQP2 | c.324G>C (p.Thr108=)
| |
12 | g.49951154G= | CA2035390838 | AQP2 | c.324G= (p.Thr108=)
| |
12 | g.49951154G>T | CA479584282 | AQP2 | c.324G>T (p.Thr108=)
| |
12 | g.49951155C>A | CA384772387 | AQP2 | c.325C>A (p.Pro109Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951155C= | CA2035390840 | AQP2 | c.325C= (p.Pro109=)
| |
12 | g.49951155C>G | CA384772388 | AQP2 | c.325C>G (p.Pro109Ala)
| |
12 | g.49951155C>T | CA384772389 | AQP2 | c.325C>T (p.Pro109Ser)
| |
12 | g.49951156C>A | CA384772391 | AQP2 | c.326C>A (p.Pro109Gln)
| gnomAD v4 |
12 | g.49951156C>G | CA384772393 | AQP2 | c.326C>G (p.Pro109Arg)
| |
12 | g.49951156C>T | CA384772395 | AQP2 | c.326C>T (p.Pro109Leu)
| |
12 | g.49951157A>C | CA479584286 | AQP2 | c.327A>C (p.Pro109=)
| |
12 | g.49951157A>G | CA479584287 | AQP2 | c.327A>G (p.Pro109=)
| |
12 | g.49951157A>T | CA479584288 | AQP2 | c.327A>T (p.Pro109=)
| |
12 | g.49951158G>A | CA384772396 | AQP2 | c.328G>A (p.Ala110Thr)
| gnomAD v4 |
12 | g.49951158G>C | CA384772398 | AQP2 | c.328G>C (p.Ala110Pro)
| |
12 | g.49951158G>T | CA384772400 | AQP2 | c.328G>T (p.Ala110Ser)
| |
12 | g.49951159C>A | CA384772403 | AQP2 | c.329C>A (p.Ala110Glu)
| |
12 | g.49951159C>G | CA384772406 | AQP2 | c.329C>G (p.Ala110Gly)
| |
12 | g.49951159C>T | CA384772402 | AQP2 | c.329C>T (p.Ala110Val)
| |
12 | g.49951160A>C | CA479584291 | AQP2 | c.330A>C (p.Ala110=)
| |
12 | g.49951160A>G | CA479584293 | AQP2 | c.330A>G (p.Ala110=)
| |
12 | g.49951160A>T | CA479584294 | AQP2 | c.330A>T (p.Ala110=)
| |
12 | g.49951161G>A | CA236731713 | AQP2 | c.331G>A (p.Asp111Asn)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951161G>C | CA384772408 | AQP2 | c.331G>C (p.Asp111His)
| |
12 | g.49951161G= | CA2035390842 | AQP2 | c.331G= (p.Asp111=)
| |
12 | g.49951161G>T | CA384772412 | AQP2 | c.331G>T (p.Asp111Tyr)
| |
12 | g.49951162del | CA2795926929 | AQP2 | c.332del (p.Asp111AlafsTer21)
| |
12 | g.49951162A= | CA2035390844 | AQP2 | c.332A= (p.Asp111=)
| |
12 | g.49951162A>C | CA384772413 | AQP2 | c.332A>C (p.Asp111Ala)
| |
12 | g.49951162A>G | CA384772414 | AQP2 | c.332A>G (p.Asp111Gly)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951162A>T | CA384772416 | AQP2 | c.332A>T (p.Asp111Val)
| |
12 | g.49951163C>A | CA384772418 | AQP2 | c.333C>A (p.Asp111Glu)
| |
12 | g.49951163C>G | CA384772420 | AQP2 | c.333C>G (p.Asp111Glu)
| |
12 | g.49951163C>T | CA479584296 | AQP2 | c.333C>T (p.Asp111=)
| |
12 | g.49951164A= | CA2035390847 | AQP2 | c.334A= (p.Ile112=)
| |
12 | g.49951164A>C | CA384772421 | AQP2 | c.334A>C (p.Ile112Leu)
| |
12 | g.49951164A>G | CA6559198 | AQP2 | c.334A>G (p.Ile112Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951164A>T | CA384772423 | AQP2 | c.334A>T (p.Ile112Phe)
| |
12 | g.49951165T>A | CA384772426 | AQP2 | c.335T>A (p.Ile112Asn)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951165T>C | CA384772427 | AQP2 | c.335T>C (p.Ile112Thr)
| |
12 | g.49951165T>G | CA384772429 | AQP2 | c.335T>G (p.Ile112Ser)
| |
12 | g.49951165T= | CA2035390849 | AQP2 | c.335T= (p.Ile112=)
| |
12 | g.49951166C>A | CA479584300 | AQP2 | c.336C>A (p.Ile112=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951166C= | CA2035390850 | AQP2 | c.336C= (p.Ile112=)
| |
12 | g.49951166C>G | CA384772431 | AQP2 | c.336C>G (p.Ile112Met)
| |
12 | g.49951166C>T | CA479584299 | AQP2 | c.336C>T (p.Ile112=)
| gnomAD v4 |
12 | g.49951167C>A | CA384772433 | AQP2 | c.337C>A (p.Arg113Ser)
| gnomAD v4 |
12 | g.49951167C= | CA2035390853 | AQP2 | c.337C= (p.Arg113=)
| |
12 | g.49951167C>G | CA384772435 | AQP2 | c.337C>G (p.Arg113Gly)
| |
12 | g.49951167C>T | CA6559199 | AQP2 | c.337C>T (p.Arg113Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951168G>A | CA6559200 | AQP2 | c.338G>A (p.Arg113His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951168G>C | CA384772438 | AQP2 | c.338G>C (p.Arg113Pro)
| |
12 | g.49951168G= | CA2035390855 | AQP2 | c.338G= (p.Arg113=)
| |
12 | g.49951168G>T | CA384772440 | AQP2 | c.338G>T (p.Arg113Leu)
| |
12 | g.49951169C>A | CA479584304 | AQP2 | c.339C>A (p.Arg113=)
| ClinVar dbSNP gnomAD v4 |
12 | g.49951169C= | CA2035390858 | AQP2 | c.339C= (p.Arg113=)
| |
12 | g.49951169C>G | CA479584305 | AQP2 | c.339C>G (p.Arg113=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951169C>T | CA6559201 | AQP2 | c.339C>T (p.Arg113=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.49951170G>A | CA6559202 | AQP2 | c.340G>A (p.Gly114Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.49951170G>C | CA384772444 | AQP2 | c.340G>C (p.Gly114Arg)
| |
12 | g.49951170G= | CA2035390866 | AQP2 | c.340G= (p.Gly114=)
| |
12 | g.49951170G>T | CA384772446 | AQP2 | c.340G>T (p.Gly114Trp)
| gnomAD v4 |
12 | g.49951173del | CA2618691284 | AQP2 | c.343del (p.Asp115ThrfsTer17)
| gnomAD v4 |
12 | g.49951171G>A | CA384772448 | AQP2 | c.341G>A (p.Gly114Glu)
| |
12 | g.49951171G>C | CA384772450 | AQP2 | c.341G>C (p.Gly114Ala)
| |
12 | g.49951171G= | CA2035390869 | AQP2 | c.341G= (p.Gly114=)
| |
12 | g.49951171G>T | CA6559203 | AQP2 | c.341G>T (p.Gly114Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951172G>A | CA6559204 | AQP2 | c.342G>A (p.Gly114=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951172G>C | CA479584306 | AQP2 | c.342G>C (p.Gly114=)
| gnomAD v4 |
12 | g.49951172G= | CA2035390871 | AQP2 | c.342G= (p.Gly114=)
| |
12 | g.49951172G>T | CA479584307 | AQP2 | c.342G>T (p.Gly114=)
| |
12 | g.49951173G>A | CA384772460 | AQP2 | c.343G>A (p.Asp115Asn)
| |
12 | g.49951173G>C | CA384772461 | AQP2 | c.343G>C (p.Asp115His)
| |
12 | g.49951173G>T | CA384772458 | AQP2 | c.343G>T (p.Asp115Tyr)
| |
12 | g.49951174A>C | CA384772463 | AQP2 | c.344A>C (p.Asp115Ala)
| |
12 | g.49951174A>G | CA384772462 | AQP2 | c.344A>G (p.Asp115Gly)
| |
12 | g.49951174A>T | CA384772465 | AQP2 | c.344A>T (p.Asp115Val)
| |
12 | g.49951175C>A | CA384772467 | AQP2 | c.345C>A (p.Asp115Glu)
| gnomAD v4 |
12 | g.49951175C= | CA2035390881 | AQP2 | c.345C= (p.Asp115=)
| |
12 | g.49951175C>G | CA384772469 | AQP2 | c.345C>G (p.Asp115Glu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951175C>T | CA6559205 | AQP2 | c.345C>T (p.Asp115=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951176C>A | CA384772470 | AQP2 | c.346C>A (p.Leu116Met)
| gnomAD v4 |
12 | g.49951176C>G | CA384772472 | AQP2 | c.346C>G (p.Leu116Val)
| |
12 | g.49951176C>T | CA479584311 | AQP2 | c.346C>T (p.Leu116=)
| |
12 | g.49951177T>A | CA384772474 | AQP2 | c.347T>A (p.Leu116Gln)
| |
12 | g.49951177T>C | CA384772476 | AQP2 | c.347T>C (p.Leu116Pro)
| |
12 | g.49951177T>G | CA384772477 | AQP2 | c.347T>G (p.Leu116Arg)
| dbSNP |
12 | g.49951177T= | CA2035390883 | AQP2 | c.347T= (p.Leu116=)
| |
12 | g.49951178G>A | CA479584315 | AQP2 | c.348G>A (p.Leu116=)
| gnomAD v4 |
12 | g.49951178G>C | CA479584317 | AQP2 | c.348G>C (p.Leu116=)
| |
12 | g.49951178G= | CA2035390886 | AQP2 | c.348G= (p.Leu116=)
| |
12 | g.49951178G>T | CA479584316 | AQP2 | c.348G>T (p.Leu116=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951179G>A | CA384772480 | AQP2 | c.349G>A (p.Ala117Thr)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.49951179G>C | CA384772482 | AQP2 | c.349G>C (p.Ala117Pro)
| |
12 | g.49951179G= | CA2035390887 | AQP2 | c.349G= (p.Ala117=)
| |
12 | g.49951179G>T | CA384772483 | AQP2 | c.349G>T (p.Ala117Ser)
| |
12 | g.49951180C>A | CA384772486 | AQP2 | c.350C>A (p.Ala117Asp)
| |
12 | g.49951180C= | CA2035390892 | AQP2 | c.350C= (p.Ala117=)
| |
12 | g.49951180C>G | CA384772489 | AQP2 | c.350C>G (p.Ala117Gly)
| |
12 | g.49951180C>T | CA384772488 | AQP2 | c.350C>T (p.Ala117Val)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951181T>A | CA479584320 | AQP2 | c.351T>A (p.Ala117=)
| ClinVar |
12 | g.49951181T>C | CA6559206 | AQP2 | c.351T>C (p.Ala117=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951181T>G | CA479584321 | AQP2 | c.351T>G (p.Ala117=)
| |
12 | g.49951181T= | CA2035390896 | AQP2 | c.351T= (p.Ala117=)
| |
12 | g.49951182G>A | CA384772492 | AQP2 | c.352G>A (p.Val118Ile)
| gnomAD v4 |
12 | g.49951182G>C | CA384772493 | AQP2 | c.352G>C (p.Val118Leu)
| |
12 | g.49951182G>T | CA384772494 | AQP2 | c.352G>T (p.Val118Phe)
| gnomAD v4 |
12 | g.49951183T>A | CA384772496 | AQP2 | c.353T>A (p.Val118Asp)
| gnomAD v4 |
12 | g.49951183T>C | CA384772500 | AQP2 | c.353T>C (p.Val118Ala)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951183T>G | CA384772498 | AQP2 | c.353T>G (p.Val118Gly)
| |
12 | g.49951183T= | CA2035390899 | AQP2 | c.353T= (p.Val118=)
| |
12 | g.49951184C>A | CA479584324 | AQP2 | c.354C>A (p.Val118=)
| gnomAD v4 |
12 | g.49951184C>G | CA479584325 | AQP2 | c.354C>G (p.Val118=)
| |
12 | g.49951184C>T | CA479584326 | AQP2 | c.354C>T (p.Val118=)
| gnomAD v4 |
12 | g.49951185A>C | CA384772502 | AQP2 | c.355A>C (p.Asn119His)
| |
12 | g.49951185A>G | CA384772503 | AQP2 | c.355A>G (p.Asn119Asp)
| gnomAD v4 COSMIC |
12 | g.49951185A>T | CA384772505 | AQP2 | c.355A>T (p.Asn119Tyr)
| |
12 | g.49951186A>C | CA384772506 | AQP2 | c.356A>C (p.Asn119Thr)
| |
12 | g.49951186A>G | CA384772508 | AQP2 | c.356A>G (p.Asn119Ser)
| |
12 | g.49951186A>T | CA384772510 | AQP2 | c.356A>T (p.Asn119Ile)
| |
12 | g.49951187T>A | CA384772511 | AQP2 | c.357T>A (p.Asn119Lys)
| |
12 | g.49951187T>C | CA479584327 | AQP2 | c.357T>C (p.Asn119=)
| ClinVar dbSNP |
12 | g.49951187T>G | CA384772513 | AQP2 | c.357T>G (p.Asn119Lys)
| |
12 | g.49951188G>A | CA384772515 | AQP2 | c.358G>A (p.Ala120Thr)
| gnomAD v4 |
12 | g.49951188G>C | CA384772517 | AQP2 | c.358G>C (p.Ala120Pro)
| |
12 | g.49951188G>T | CA384772518 | AQP2 | c.358G>T (p.Ala120Ser)
| gnomAD v4 |
12 | g.49951189C>A | CA384772520 | AQP2 | c.359C>A (p.Ala120Asp)
| gnomAD v4 |
12 | g.49951189C>G | CA384772524 | AQP2 | c.359C>G (p.Ala120Gly)
| |
12 | g.49951189C>T | CA384772522 | AQP2 | c.359C>T (p.Ala120Val)
| |
12 | g.49951189_49951191delinsCTG | CA2035390907 | AQP2 | c.359_360+1delinsCTG
| |
12 | g.49951190T>A | CA479584331 | AQP2 | c.360T>A (p.Ala120=)
| |
12 | g.49951190T>C | CA479584332 | AQP2 | c.360T>C (p.Ala120=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.49951190T>G | CA479584333 | AQP2 | c.360T>G (p.Ala120=)
| |
12 | g.49951190T= | CA2035390911 | AQP2 | c.360T= (p.Ala120=)
| |
12 | g.49951192_49951193del | CA605235882 | AQP2 | c.360+2_360+3del
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951191G>A | CA6559207 | AQP2 | c.360+1G>A (n.360+1G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951191G>C | CA384772527 | AQP2 | c.360+1G>C (n.360+1G>C)
| |
12 | g.49951191G= | CA2035390915 | AQP2 | c.360+1G= (n.360+1G=)
| |
12 | g.49951191G>T | CA384772529 | AQP2 | c.360+1G>T (n.360+1G>T)
| gnomAD v4 |
12 | g.49951193_49951196del | CA2618691340 | AQP2 | c.360+3_360+6del (n.360+3_360+6del)
| gnomAD v4 |
12 | g.49951192T>A | CA384772531 | AQP2 | c.360+2T>A (n.360+2T>A)
| |
12 | g.49951192T>C | CA384772533 | AQP2 | c.360+2T>C (n.360+2T>C)
| gnomAD v4 |
12 | g.49951192T>G | CA384772535 | AQP2 | c.360+2T>G (n.360+2T>G)
| |
12 | g.49951193G>A | CA6559208 | AQP2 | c.360+3G>A (n.360+3G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951193G>C | CA2581086372 | AQP2 | c.360+3G>C (n.360+3G>C)
| |
12 | g.49951193G= | CA1630855687 | AQP2 | c.360+3G= (n.360+3G=)
| |
12 | g.49951193G>T | CA2581086371 | AQP2 | c.360+3G>T (n.360+3G>T)
| gnomAD v4 |
12 | g.49951194A= | CA2035390923 | AQP2 | c.360+4A= (n.360+4A=)
| |
12 | g.49951194A>G | CA605235883 | AQP2 | c.360+4A>G (n.360+4A>G)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951194A>T | CA2618691348 | AQP2 | c.360+4A>T (n.360+4A>T)
| gnomAD v4 |
12 | g.49951195G>A | CA2618691352 | AQP2 | c.360+5G>A (n.360+5G>A)
| gnomAD v4 |
12 | g.49951195G= | CA2035390926 | AQP2 | c.360+5G= (n.360+5G=)
| |
12 | g.49951195G>T | CA6559209 | AQP2 | c.360+5G>T (n.360+5G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.49951196T>C | CA2618691355 | AQP2 | c.360+6T>C (n.360+6T>C)
| gnomAD v4 |
12 | g.49951197A>G | CA2618691356 | AQP2 | c.360+7A>G (n.360+7A>G)
| gnomAD v4 |
12 | g.49951198G>A | CA236731774 | AQP2 | c.360+8G>A (n.360+8G>A)
| dbSNP gnomAD v4 |
12 | g.49951198G= | CA2035390929 | AQP2 | c.360+8G= (n.360+8G=)
| |
12 | g.49951198G>T | CA605235884 | AQP2 | c.360+8G>T (n.360+8G>T)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951199C>A | CA2618691359 | AQP2 | c.360+9C>A (n.360+9C>A)
| gnomAD v4 |
12 | g.49951200C>A | CA2618691362 | AQP2 | c.360+10C>A (n.360+10C>A)
| gnomAD v4 |
12 | g.49951200C= | CA2035390931 | AQP2 | c.360+10C= (n.360+10C=)
| |
12 | g.49951200C>T | CA605235885 | AQP2 | c.360+10C>T (n.360+10C>T)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951202C>A | CA2618691363 | AQP2 | c.360+12C>A (n.360+12C>A)
| gnomAD v4 |
12 | g.49951202C= | CA2035390933 | AQP2 | c.360+12C= (n.360+12C=)
| |
12 | g.49951202C>G | CA605235886 | AQP2 | c.360+12C>G (n.360+12C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951202C>T | CA2618691366 | AQP2 | c.360+12C>T (n.360+12C>T)
| ClinVar gnomAD v4 |
12 | g.49951203A>G | CA2618691367 | AQP2 | c.360+13A>G (n.360+13A>G)
| gnomAD v4 |
12 | g.49951204A>G | CA2618691368 | AQP2 | c.360+14A>G (n.360+14A>G)
| gnomAD v4 |
12 | g.49951205C>A | CA2618691370 | AQP2 | c.360+15C>A (n.360+15C>A)
| gnomAD v4 |
12 | g.49951205C= | CA2035390936 | AQP2 | c.360+15C= (n.360+15C=)
| |
12 | g.49951205C>T | CA605235887 | AQP2 | c.360+15C>T (n.360+15C>T)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.49951206T>C | CA2618691377 | AQP2 | c.360+16T>C (n.360+16T>C)
| gnomAD v4 |
12 | g.49951208del | CA2618691374 | AQP2 | c.360+18del (n.360+18del)
| gnomAD v4 |
12 | g.49951207_49951208del | CA2618691376 | AQP2 | c.360+17_360+18del (n.360+17_360+18del)
| gnomAD v4 |
12 | g.49951207T>A | CA236731776 | AQP2 | c.360+17T>A (n.360+17T>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.49951207T= | CA2035390939 | AQP2 | c.360+17T= (n.360+17T=)
| |
12 | g.49951209G>A | CA2618691378 | AQP2 | c.360+19G>A (n.360+19G>A)
| gnomAD v4 |
12 | g.49951209G>T | CA2618691379 | AQP2 | c.360+19G>T (n.360+19G>T)
| gnomAD v4 |