| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49950918_49950941delinsTCTGCCCTCAACTGGCCACAGGCC | CA2035390385 | AQP2 | c.88_111delinsTCTGCCCTCAACTGGCCACAGGCC (p.Ser30=) | |
| 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 |