UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109800652_109800752dup | CA2620823700 | TRPV4 | c.725_825dup (p.Lys276CysfsTer63) c.754_854dup (p.Arg286AlafsTer5) n.756_856dup c.623_723dup (p.Lys242CysfsTer63) c.713-1834_713-1734dup (n.713-1834_713-1734dup) c.878_978dup (p.Lys327CysfsTer63) c.866-1834_866-1734dup (n.866-1834_866-1734dup) | gnomAD v4 |
| 12 | g.109800661C>A | CA481719022 | TRPV4 | c.810G>T (p.Gly270=) c.839G>T (p.Gly280Val) n.841G>T c.708G>T (p.Gly236=) c.713-1749G>T (n.713-1749G>T) c.963G>T (p.Gly321=) c.866-1749G>T (n.866-1749G>T) | |
| 12 | g.109800661C= | CA2062574737 | TRPV4 | c.810G= (p.Gly270=) c.839G= (p.Gly280=) n.841G= c.708G= (p.Gly236=) c.713-1749G= (n.713-1749G=) c.963G= (p.Gly321=) c.866-1749G= (n.866-1749G=) | |
| 12 | g.109800661C>G | CA481719023 | TRPV4 | c.810G>C (p.Gly270=) c.839G>C (p.Gly280Ala) n.841G>C c.708G>C (p.Gly236=) c.713-1749G>C (n.713-1749G>C) c.963G>C (p.Gly321=) c.866-1749G>C (n.866-1749G>C) | |
| 12 | g.109800661C>T | CA349122 | TRPV4 | c.810G>A (p.Gly270=) c.839G>A (p.Gly280Asp) n.841G>A c.708G>A (p.Gly236=) c.713-1749G>A (n.713-1749G>A) c.963G>A (p.Gly321=) c.866-1749G>A (n.866-1749G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800662C>A | CA342823 | TRPV4 | c.809G>T (p.Gly270Val) c.838G>T (p.Gly280Cys) n.840G>T c.707G>T (p.Gly236Val) c.713-1750G>T (n.713-1750G>T) c.962G>T (p.Gly321Val) c.866-1750G>T (n.866-1750G>T) | ClinVar dbSNP |
| 12 | g.109800662C= | CA2062574741 | TRPV4 | c.809G= (p.Gly270=) c.838G= (p.Gly280=) n.840G= c.707G= (p.Gly236=) c.713-1750G= (n.713-1750G=) c.962G= (p.Gly321=) c.866-1750G= (n.866-1750G=) | |
| 12 | g.109800662C>G | CA386655318 | TRPV4 | c.809G>C (p.Gly270Ala) c.838G>C (p.Gly280Arg) n.840G>C c.707G>C (p.Gly236Ala) c.713-1750G>C (n.713-1750G>C) c.962G>C (p.Gly321Ala) c.866-1750G>C (n.866-1750G>C) | |
| 12 | g.109800662C>T | CA386655317 | TRPV4 | c.809G>A (p.Gly270Glu) c.838G>A (p.Gly280Ser) n.840G>A c.707G>A (p.Gly236Glu) c.713-1750G>A (n.713-1750G>A) c.962G>A (p.Gly321Glu) c.866-1750G>A (n.866-1750G>A) | |
| 12 | g.109800663C>A | CA386655319 | TRPV4 | c.808G>T (p.Gly270Trp) c.837G>T (p.Val279=) n.839G>T c.706G>T (p.Gly236Trp) c.713-1751G>T (n.713-1751G>T) c.961G>T (p.Gly321Trp) c.866-1751G>T (n.866-1751G>T) | |
| 12 | g.109800663C>G | CA386655320 | TRPV4 | c.808G>C (p.Gly270Arg) c.837G>C (p.Val279=) n.839G>C c.706G>C (p.Gly236Arg) c.713-1751G>C (n.713-1751G>C) c.961G>C (p.Gly321Arg) c.866-1751G>C (n.866-1751G>C) | |
| 12 | g.109800663C>T | CA386655321 | TRPV4 | c.808G>A (p.Gly270Arg) c.837G>A (p.Val279=) n.839G>A c.706G>A (p.Gly236Arg) c.713-1751G>A (n.713-1751G>A) c.961G>A (p.Gly321Arg) c.866-1751G>A (n.866-1751G>A) | |
| 12 | g.109800664A>C | CA481719033 | TRPV4 | c.807T>G (p.Arg269=) c.836T>G (p.Val279Gly) n.838T>G c.705T>G (p.Arg235=) c.713-1752T>G (n.713-1752T>G) c.960T>G (p.Arg320=) c.866-1752T>G (n.866-1752T>G) | |
| 12 | g.109800664A>G | CA481719034 | TRPV4 | c.807T>C (p.Arg269=) c.836T>C (p.Val279Ala) n.838T>C c.705T>C (p.Arg235=) c.713-1752T>C (n.713-1752T>C) c.960T>C (p.Arg320=) c.866-1752T>C (n.866-1752T>C) | |
| 12 | g.109800664A>T | CA481719036 | TRPV4 | c.807T>A (p.Arg269=) c.836T>A (p.Val279Glu) n.838T>A c.705T>A (p.Arg235=) c.713-1752T>A (n.713-1752T>A) c.960T>A (p.Arg320=) c.866-1752T>A (n.866-1752T>A) | |
| 12 | g.109800665C>A | CA386655322 | TRPV4 | c.806G>T (p.Arg269Leu) c.835G>T (p.Val279Leu) n.837G>T c.704G>T (p.Arg235Leu) c.713-1753G>T (n.713-1753G>T) c.959G>T (p.Arg320Leu) c.866-1753G>T (n.866-1753G>T) | |
| 12 | g.109800665C= | CA2062574744 | TRPV4 | c.806G= (p.Arg269=) c.835G= (p.Val279=) n.837G= c.704G= (p.Arg235=) c.713-1753G= (n.713-1753G=) c.959G= (p.Arg320=) c.866-1753G= (n.866-1753G=) | |
| 12 | g.109800665C>G | CA386655323 | TRPV4 | c.806G>C (p.Arg269Pro) c.835G>C (p.Val279Leu) n.837G>C c.704G>C (p.Arg235Pro) c.713-1753G>C (n.713-1753G>C) c.959G>C (p.Arg320Pro) c.866-1753G>C (n.866-1753G>C) | gnomAD v4 |
| 12 | g.109800665C>T | CA117180 | TRPV4 | c.806G>A (p.Arg269His) c.835G>A (p.Val279Met) n.837G>A c.704G>A (p.Arg235His) c.713-1753G>A (n.713-1753G>A) c.959G>A (p.Arg320His) c.866-1753G>A (n.866-1753G>A) | ClinVar dbSNP COSMIC |
| 12 | g.109800666G>A | CA130778 | TRPV4 | c.805C>T (p.Arg269Cys) c.834C>T (p.Pro278=) n.836C>T c.703C>T (p.Arg235Cys) c.713-1754C>T (n.713-1754C>T) c.958C>T (p.Arg320Cys) c.866-1754C>T (n.866-1754C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800666G>C | CA386655324 | TRPV4 | c.805C>G (p.Arg269Gly) c.834C>G (p.Pro278=) n.836C>G c.703C>G (p.Arg235Gly) c.713-1754C>G (n.713-1754C>G) c.958C>G (p.Arg320Gly) c.866-1754C>G (n.866-1754C>G) | |
| 12 | g.109800666G= | CA2062574750 | TRPV4 | c.805C= (p.Arg269=) c.834C= (p.Pro278=) n.836C= c.703C= (p.Arg235=) c.713-1754C= (n.713-1754C=) c.958C= (p.Arg320=) c.866-1754C= (n.866-1754C=) | |
| 12 | g.109800666G>T | CA386655325 | TRPV4 | c.805C>A (p.Arg269Ser) c.834C>A (p.Pro278=) n.836C>A c.703C>A (p.Arg235Ser) c.713-1754C>A (n.713-1754C>A) c.958C>A (p.Arg320Ser) c.866-1754C>A (n.866-1754C>A) | ClinVar dbSNP |
| 12 | g.109800667G>A | CA481719045 | TRPV4 | c.804C>T (p.Ala268=) c.833C>T (p.Pro278Leu) n.835C>T c.702C>T (p.Ala234=) c.713-1755C>T (n.713-1755C>T) c.957C>T (p.Ala319=) c.866-1755C>T (n.866-1755C>T) | |
| 12 | g.109800667G>C | CA481719042 | TRPV4 | c.804C>G (p.Ala268=) c.833C>G (p.Pro278Arg) n.835C>G c.702C>G (p.Ala234=) c.713-1755C>G (n.713-1755C>G) c.957C>G (p.Ala319=) c.866-1755C>G (n.866-1755C>G) | |
| 12 | g.109800667G>T | CA481719043 | TRPV4 | c.804C>A (p.Ala268=) c.833C>A (p.Pro278His) n.835C>A c.702C>A (p.Ala234=) c.713-1755C>A (n.713-1755C>A) c.957C>A (p.Ala319=) c.866-1755C>A (n.866-1755C>A) | |
| 12 | g.109800668G>A | CA386655326 | TRPV4 | c.803C>T (p.Ala268Val) c.832C>T (p.Pro278Ser) n.834C>T c.701C>T (p.Ala234Val) c.713-1756C>T (n.713-1756C>T) c.956C>T (p.Ala319Val) c.866-1756C>T (n.866-1756C>T) | gnomAD v4 |
| 12 | g.109800668G>C | CA386655327 | TRPV4 | c.803C>G (p.Ala268Gly) c.832C>G (p.Pro278Ala) n.834C>G c.701C>G (p.Ala234Gly) c.713-1756C>G (n.713-1756C>G) c.956C>G (p.Ala319Gly) c.866-1756C>G (n.866-1756C>G) | |
| 12 | g.109800668G>T | CA386655328 | TRPV4 | c.803C>A (p.Ala268Asp) c.832C>A (p.Pro278Thr) n.834C>A c.701C>A (p.Ala234Asp) c.713-1756C>A (n.713-1756C>A) c.956C>A (p.Ala319Asp) c.866-1756C>A (n.866-1756C>A) | |
| 12 | g.109800669C>A | CA386655330 | TRPV4 | c.802G>T (p.Ala268Ser) c.831G>T (p.Arg277Ser) n.833G>T c.700G>T (p.Ala234Ser) c.713-1757G>T (n.713-1757G>T) c.955G>T (p.Ala319Ser) c.866-1757G>T (n.866-1757G>T) | |
| 12 | g.109800669C>G | CA386655331 | TRPV4 | c.802G>C (p.Ala268Pro) c.831G>C (p.Arg277Ser) n.833G>C c.700G>C (p.Ala234Pro) c.713-1757G>C (n.713-1757G>C) c.955G>C (p.Ala319Pro) c.866-1757G>C (n.866-1757G>C) | |
| 12 | g.109800669C>T | CA386655329 | TRPV4 | c.802G>A (p.Ala268Thr) c.831G>A (p.Arg277=) n.833G>A c.700G>A (p.Ala234Thr) c.713-1757G>A (n.713-1757G>A) c.955G>A (p.Ala319Thr) c.866-1757G>A (n.866-1757G>A) | |
| 12 | g.109800670C>A | CA386655332 | TRPV4 | c.801G>T (p.Gln267His) c.830G>T (p.Arg277Met) n.832G>T c.699G>T (p.Gln233His) c.713-1758G>T (n.713-1758G>T) c.954G>T (p.Gln318His) c.866-1758G>T (n.866-1758G>T) | COSMIC |
| 12 | g.109800670C>G | CA386655333 | TRPV4 | c.801G>C (p.Gln267His) c.830G>C (p.Arg277Thr) n.832G>C c.699G>C (p.Gln233His) c.713-1758G>C (n.713-1758G>C) c.954G>C (p.Gln318His) c.866-1758G>C (n.866-1758G>C) | |
| 12 | g.109800670C>T | CA481719053 | TRPV4 | c.801G>A (p.Gln267=) c.830G>A (p.Arg277Lys) n.832G>A c.699G>A (p.Gln233=) c.713-1758G>A (n.713-1758G>A) c.954G>A (p.Gln318=) c.866-1758G>A (n.866-1758G>A) | |
| 12 | g.109800671T>A | CA386655334 | TRPV4 | c.800A>T (p.Gln267Leu) c.829A>T (p.Arg277Trp) n.831A>T c.698A>T (p.Gln233Leu) c.713-1759A>T (n.713-1759A>T) c.953A>T (p.Gln318Leu) c.866-1759A>T (n.866-1759A>T) | |
| 12 | g.109800671T>C | CA386655335 | TRPV4 | c.800A>G (p.Gln267Arg) c.829A>G (p.Arg277Gly) n.831A>G c.698A>G (p.Gln233Arg) c.713-1759A>G (n.713-1759A>G) c.953A>G (p.Gln318Arg) c.866-1759A>G (n.866-1759A>G) | |
| 12 | g.109800671T>G | CA386655336 | TRPV4 | c.800A>C (p.Gln267Pro) c.829A>C (p.Arg277=) n.831A>C c.698A>C (p.Gln233Pro) c.713-1759A>C (n.713-1759A>C) c.953A>C (p.Gln318Pro) c.866-1759A>C (n.866-1759A>C) | |
| 12 | g.109800672G>A | CA386655339 | TRPV4 | c.799C>T (p.Gln267Ter) c.828C>T (p.Pro276=) n.830C>T c.697C>T (p.Gln233Ter) c.713-1760C>T (n.713-1760C>T) c.952C>T (p.Gln318Ter) c.866-1760C>T (n.866-1760C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109800672G>C | CA386655338 | TRPV4 | c.799C>G (p.Gln267Glu) c.828C>G (p.Pro276=) n.830C>G c.697C>G (p.Gln233Glu) c.713-1760C>G (n.713-1760C>G) c.952C>G (p.Gln318Glu) c.866-1760C>G (n.866-1760C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109800672G= | CA2062574758 | TRPV4 | c.799C= (p.Gln267=) c.828C= (p.Pro276=) n.830C= c.697C= (p.Gln233=) c.713-1760C= (n.713-1760C=) c.952C= (p.Gln318=) c.866-1760C= (n.866-1760C=) | |
| 12 | g.109800672G>T | CA386655337 | TRPV4 | c.799C>A (p.Gln267Lys) c.828C>A (p.Pro276=) n.830C>A c.697C>A (p.Gln233Lys) c.713-1760C>A (n.713-1760C>A) c.952C>A (p.Gln318Lys) c.866-1760C>A (n.866-1760C>A) | ClinVar dbSNP |
| 12 | g.109800673G>A | CA481719059 | TRPV4 | c.798C>T (p.Ala266=) c.827C>T (p.Pro276Leu) n.829C>T c.696C>T (p.Ala232=) c.713-1761C>T (n.713-1761C>T) c.951C>T (p.Ala317=) c.866-1761C>T (n.866-1761C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109800673G>C | CA481719058 | TRPV4 | c.798C>G (p.Ala266=) c.827C>G (p.Pro276Arg) n.829C>G c.696C>G (p.Ala232=) c.713-1761C>G (n.713-1761C>G) c.951C>G (p.Ala317=) c.866-1761C>G (n.866-1761C>G) | |
| 12 | g.109800673G= | CA2062574761 | TRPV4 | c.798C= (p.Ala266=) c.827C= (p.Pro276=) n.829C= c.696C= (p.Ala232=) c.713-1761C= (n.713-1761C=) c.951C= (p.Ala317=) c.866-1761C= (n.866-1761C=) | |
| 12 | g.109800673G>T | CA481719061 | TRPV4 | c.798C>A (p.Ala266=) c.827C>A (p.Pro276His) n.829C>A c.696C>A (p.Ala232=) c.713-1761C>A (n.713-1761C>A) c.951C>A (p.Ala317=) c.866-1761C>A (n.866-1761C>A) | |
| 12 | g.109800674G>A | CA386655340 | TRPV4 | c.797C>T (p.Ala266Val) c.826C>T (p.Pro276Ser) n.828C>T c.695C>T (p.Ala232Val) c.713-1762C>T (n.713-1762C>T) c.950C>T (p.Ala317Val) c.866-1762C>T (n.866-1762C>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.109800674G>C | CA386655341 | TRPV4 | c.797C>G (p.Ala266Gly) c.826C>G (p.Pro276Ala) n.828C>G c.695C>G (p.Ala232Gly) c.713-1762C>G (n.713-1762C>G) c.950C>G (p.Ala317Gly) c.866-1762C>G (n.866-1762C>G) | |
| 12 | g.109800674G= | CA2062574765 | TRPV4 | c.797C= (p.Ala266=) c.826C= (p.Pro276=) n.828C= c.695C= (p.Ala232=) c.713-1762C= (n.713-1762C=) c.950C= (p.Ala317=) c.866-1762C= (n.866-1762C=) | |
| 12 | g.109800674G>T | CA386655342 | TRPV4 | c.797C>A (p.Ala266Asp) c.826C>A (p.Pro276Thr) n.828C>A c.695C>A (p.Ala232Asp) c.713-1762C>A (n.713-1762C>A) c.950C>A (p.Ala317Asp) c.866-1762C>A (n.866-1762C>A) | |
| 12 | g.109800675C>A | CA386655343 | TRPV4 | c.796G>T (p.Ala266Ser) c.825G>T (p.Thr275=) n.827G>T c.694G>T (p.Ala232Ser) c.713-1763G>T (n.713-1763G>T) c.949G>T (p.Ala317Ser) c.866-1763G>T (n.866-1763G>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.109800675C= | CA2062574773 | TRPV4 | c.796G= (p.Ala266=) c.825G= (p.Thr275=) n.827G= c.694G= (p.Ala232=) c.713-1763G= (n.713-1763G=) c.949G= (p.Ala317=) c.866-1763G= (n.866-1763G=) | |
| 12 | g.109800675C>G | CA6780422 | TRPV4 | c.796G>C (p.Ala266Pro) c.825G>C (p.Thr275=) n.827G>C c.694G>C (p.Ala232Pro) c.713-1763G>C (n.713-1763G>C) c.949G>C (p.Ala317Pro) c.866-1763G>C (n.866-1763G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109800675C>T | CA386655344 | TRPV4 | c.796G>A (p.Ala266Thr) c.825G>A (p.Thr275=) n.827G>A c.694G>A (p.Ala232Thr) c.713-1763G>A (n.713-1763G>A) c.949G>A (p.Ala317Thr) c.866-1763G>A (n.866-1763G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109800676G>A | CA291395 | TRPV4 | c.795C>T (p.His265=) c.824C>T (p.Thr275Met) n.826C>T c.693C>T (p.His231=) c.713-1764C>T (n.713-1764C>T) c.948C>T (p.His316=) c.866-1764C>T (n.866-1764C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800676G>C | CA386655346 | TRPV4 | c.795C>G (p.His265Gln) c.824C>G (p.Thr275Arg) n.826C>G c.693C>G (p.His231Gln) c.713-1764C>G (n.713-1764C>G) c.948C>G (p.His316Gln) c.866-1764C>G (n.866-1764C>G) | |
| 12 | g.109800676G= | CA2062574780 | TRPV4 | c.795C= (p.His265=) c.824C= (p.Thr275=) n.826C= c.693C= (p.His231=) c.713-1764C= (n.713-1764C=) c.948C= (p.His316=) c.866-1764C= (n.866-1764C=) | |
| 12 | g.109800676G>T | CA386655345 | TRPV4 | c.795C>A (p.His265Gln) c.824C>A (p.Thr275Lys) n.826C>A c.693C>A (p.His231Gln) c.713-1764C>A (n.713-1764C>A) c.948C>A (p.His316Gln) c.866-1764C>A (n.866-1764C>A) | |
| 12 | g.109800677T>A | CA386655347 | TRPV4 | c.794A>T (p.His265Leu) c.823A>T (p.Thr275Ser) n.825A>T c.692A>T (p.His231Leu) c.713-1765A>T (n.713-1765A>T) c.947A>T (p.His316Leu) c.866-1765A>T (n.866-1765A>T) | |
| 12 | g.109800677T>C | CA386655348 | TRPV4 | c.794A>G (p.His265Arg) c.823A>G (p.Thr275Ala) n.825A>G c.692A>G (p.His231Arg) c.713-1765A>G (n.713-1765A>G) c.947A>G (p.His316Arg) c.866-1765A>G (n.866-1765A>G) | |
| 12 | g.109800677T>G | CA386655349 | TRPV4 | c.794A>C (p.His265Pro) c.823A>C (p.Thr275Pro) n.825A>C c.692A>C (p.His231Pro) c.713-1765A>C (n.713-1765A>C) c.947A>C (p.His316Pro) c.866-1765A>C (n.866-1765A>C) | |
| 12 | g.109800678G>A | CA386655350 | TRPV4 | c.793C>T (p.His265Tyr) c.822C>T (p.Ser274=) n.824C>T c.691C>T (p.His231Tyr) c.713-1766C>T (n.713-1766C>T) c.946C>T (p.His316Tyr) c.866-1766C>T (n.866-1766C>T) | |
| 12 | g.109800678G>C | CA386655351 | TRPV4 | c.793C>G (p.His265Asp) c.822C>G (p.Ser274=) n.824C>G c.691C>G (p.His231Asp) c.713-1766C>G (n.713-1766C>G) c.946C>G (p.His316Asp) c.866-1766C>G (n.866-1766C>G) | |
| 12 | g.109800678G>T | CA386655352 | TRPV4 | c.793C>A (p.His265Asn) c.822C>A (p.Ser274=) n.824C>A c.691C>A (p.His231Asn) c.713-1766C>A (n.713-1766C>A) c.946C>A (p.His316Asn) c.866-1766C>A (n.866-1766C>A) | |
| 12 | g.109800679G>A | CA481719073 | TRPV4 | c.792C>T (p.Val264=) c.821C>T (p.Ser274Phe) n.823C>T c.690C>T (p.Val230=) c.713-1767C>T (n.713-1767C>T) c.945C>T (p.Val315=) c.866-1767C>T (n.866-1767C>T) | |
| 12 | g.109800679G>C | CA481719075 | TRPV4 | c.792C>G (p.Val264=) c.821C>G (p.Ser274Cys) n.823C>G c.690C>G (p.Val230=) c.713-1767C>G (n.713-1767C>G) c.945C>G (p.Val315=) c.866-1767C>G (n.866-1767C>G) | |
| 12 | g.109800679G= | CA2062574785 | TRPV4 | c.792C= (p.Val264=) c.821C= (p.Ser274=) n.823C= c.690C= (p.Val230=) c.713-1767C= (n.713-1767C=) c.945C= (p.Val315=) c.866-1767C= (n.866-1767C=) | |
| 12 | g.109800679G>T | CA243469095 | TRPV4 | c.792C>A (p.Val264=) c.821C>A (p.Ser274Tyr) n.823C>A c.690C>A (p.Val230=) c.713-1767C>A (n.713-1767C>A) c.945C>A (p.Val315=) c.866-1767C>A (n.866-1767C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109800680A>C | CA386655355 | TRPV4 | c.791T>G (p.Val264Gly) c.820T>G (p.Ser274Ala) n.822T>G c.689T>G (p.Val230Gly) c.713-1768T>G (n.713-1768T>G) c.944T>G (p.Val315Gly) c.866-1768T>G (n.866-1768T>G) | |
| 12 | g.109800680A>G | CA386655353 | TRPV4 | c.791T>C (p.Val264Ala) c.820T>C (p.Ser274Pro) n.822T>C c.689T>C (p.Val230Ala) c.713-1768T>C (n.713-1768T>C) c.944T>C (p.Val315Ala) c.866-1768T>C (n.866-1768T>C) | |
| 12 | g.109800680A>T | CA386655354 | TRPV4 | c.791T>A (p.Val264Asp) c.820T>A (p.Ser274Thr) n.822T>A c.689T>A (p.Val230Asp) c.713-1768T>A (n.713-1768T>A) c.944T>A (p.Val315Asp) c.866-1768T>A (n.866-1768T>A) | |
| 12 | g.109800681C>A | CA386655356 | TRPV4 | c.790G>T (p.Val264Phe) c.819G>T (p.Met273Ile) n.821G>T c.688G>T (p.Val230Phe) c.713-1769G>T (n.713-1769G>T) c.943G>T (p.Val315Phe) c.866-1769G>T (n.866-1769G>T) | |
| 12 | g.109800681C= | CA2062574787 | TRPV4 | c.790G= (p.Val264=) c.819G= (p.Met273=) n.821G= c.688G= (p.Val230=) c.713-1769G= (n.713-1769G=) c.943G= (p.Val315=) c.866-1769G= (n.866-1769G=) | |
| 12 | g.109800681C>G | CA386655357 | TRPV4 | c.790G>C (p.Val264Leu) c.819G>C (p.Met273Ile) n.821G>C c.688G>C (p.Val230Leu) c.713-1769G>C (n.713-1769G>C) c.943G>C (p.Val315Leu) c.866-1769G>C (n.866-1769G>C) | |
| 12 | g.109800681C>T | CA6780423 | TRPV4 | c.790G>A (p.Val264Ile) c.819G>A (p.Met273Ile) n.821G>A c.688G>A (p.Val230Ile) c.713-1769G>A (n.713-1769G>A) c.943G>A (p.Val315Ile) c.866-1769G>A (n.866-1769G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109800681_109800682delinsTG | CA2739277329 | TRPV4 | c.789_790delinsCA (p.Val264Ile) c.818_819delinsCA (p.Met273Thr) n.820_821delinsCA c.687_688delinsCA (p.Val230Ile) c.713-1770_713-1769delinsCA (n.713-1770_713-1769delinsCA) c.942_943delinsCA (p.Val315Ile) c.866-1770_866-1769delinsCA (n.866-1770_866-1769delinsCA) | ClinVar |
| 12 | g.109800682A= | CA2062574792 | TRPV4 | c.789T= (p.Asp263=) c.818T= (p.Met273=) n.820T= c.687T= (p.Asp229=) c.713-1770T= (n.713-1770T=) c.942T= (p.Asp314=) c.866-1770T= (n.866-1770T=) | |
| 12 | g.109800682A>C | CA386655358 | TRPV4 | c.789T>G (p.Asp263Glu) c.818T>G (p.Met273Arg) n.820T>G c.687T>G (p.Asp229Glu) c.713-1770T>G (n.713-1770T>G) c.942T>G (p.Asp314Glu) c.866-1770T>G (n.866-1770T>G) | |
| 12 | g.109800682A>G | CA291392 | TRPV4 | c.789T>C (p.Asp263=) c.818T>C (p.Met273Thr) n.820T>C c.687T>C (p.Asp229=) c.713-1770T>C (n.713-1770T>C) c.942T>C (p.Asp314=) c.866-1770T>C (n.866-1770T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800682A>T | CA386655359 | TRPV4 | c.789T>A (p.Asp263Glu) c.818T>A (p.Met273Lys) n.820T>A c.687T>A (p.Asp229Glu) c.713-1770T>A (n.713-1770T>A) c.942T>A (p.Asp314Glu) c.866-1770T>A (n.866-1770T>A) | |
| 12 | g.109800683T>A | CA386655360 | TRPV4 | c.788A>T (p.Asp263Val) c.817A>T (p.Met273Leu) n.819A>T c.686A>T (p.Asp229Val) c.713-1771A>T (n.713-1771A>T) c.941A>T (p.Asp314Val) c.866-1771A>T (n.866-1771A>T) | |
| 12 | g.109800683T>C | CA386655362 | TRPV4 | c.788A>G (p.Asp263Gly) c.817A>G (p.Met273Val) n.819A>G c.686A>G (p.Asp229Gly) c.713-1771A>G (n.713-1771A>G) c.941A>G (p.Asp314Gly) c.866-1771A>G (n.866-1771A>G) | |
| 12 | g.109800683T>G | CA386655361 | TRPV4 | c.788A>C (p.Asp263Ala) c.817A>C (p.Met273Leu) n.819A>C c.686A>C (p.Asp229Ala) c.713-1771A>C (n.713-1771A>C) c.941A>C (p.Asp314Ala) c.866-1771A>C (n.866-1771A>C) | |
| 12 | g.109800684C>A | CA386655363 | TRPV4 | c.787G>T (p.Asp263Tyr) c.816G>T (p.Leu272=) n.818G>T c.685G>T (p.Asp229Tyr) c.713-1772G>T (n.713-1772G>T) c.940G>T (p.Asp314Tyr) c.866-1772G>T (n.866-1772G>T) | |
| 12 | g.109800684C>G | CA386655364 | TRPV4 | c.787G>C (p.Asp263His) c.816G>C (p.Leu272=) n.818G>C c.685G>C (p.Asp229His) c.713-1772G>C (n.713-1772G>C) c.940G>C (p.Asp314His) c.866-1772G>C (n.866-1772G>C) | |
| 12 | g.109800684C>T | CA386655365 | TRPV4 | c.787G>A (p.Asp263Asn) c.816G>A (p.Leu272=) n.818G>A c.685G>A (p.Asp229Asn) c.713-1772G>A (n.713-1772G>A) c.940G>A (p.Asp314Asn) c.866-1772G>A (n.866-1772G>A) | |
| 12 | g.109800685A>C | CA481719090 | TRPV4 | c.786T>G (p.Ala262=) c.815T>G (p.Leu272Arg) n.817T>G c.684T>G (p.Ala228=) c.713-1773T>G (n.713-1773T>G) c.939T>G (p.Ala313=) c.866-1773T>G (n.866-1773T>G) | |
| 12 | g.109800685A>G | CA481719092 | TRPV4 | c.786T>C (p.Ala262=) c.815T>C (p.Leu272Pro) n.817T>C c.684T>C (p.Ala228=) c.713-1773T>C (n.713-1773T>C) c.939T>C (p.Ala313=) c.866-1773T>C (n.866-1773T>C) | gnomAD v4 |
| 12 | g.109800685A>T | CA481719094 | TRPV4 | c.786T>A (p.Ala262=) c.815T>A (p.Leu272Gln) n.817T>A c.684T>A (p.Ala228=) c.713-1773T>A (n.713-1773T>A) c.939T>A (p.Ala313=) c.866-1773T>A (n.866-1773T>A) | |
| 12 | g.109800686G>A | CA386655366 | TRPV4 | c.785C>T (p.Ala262Val) c.814C>T (p.Leu272=) n.816C>T c.683C>T (p.Ala228Val) c.713-1774C>T (n.713-1774C>T) c.938C>T (p.Ala313Val) c.866-1774C>T (n.866-1774C>T) | dbSNP |
| 12 | g.109800686G>C | CA386655367 | TRPV4 | c.785C>G (p.Ala262Gly) c.814C>G (p.Leu272Val) n.816C>G c.683C>G (p.Ala228Gly) c.713-1774C>G (n.713-1774C>G) c.938C>G (p.Ala313Gly) c.866-1774C>G (n.866-1774C>G) | |
| 12 | g.109800686G= | CA2062574795 | TRPV4 | c.785C= (p.Ala262=) c.814C= (p.Leu272=) n.816C= c.683C= (p.Ala228=) c.713-1774C= (n.713-1774C=) c.938C= (p.Ala313=) c.866-1774C= (n.866-1774C=) | |
| 12 | g.109800686G>T | CA386655368 | TRPV4 | c.785C>A (p.Ala262Asp) c.814C>A (p.Leu272Met) n.816C>A c.683C>A (p.Ala228Asp) c.713-1774C>A (n.713-1774C>A) c.938C>A (p.Ala313Asp) c.866-1774C>A (n.866-1774C>A) | |
| 12 | g.109800687C>A | CA386655369 | TRPV4 | c.784G>T (p.Ala262Ser) c.813G>T (p.Glu271Asp) n.815G>T c.682G>T (p.Ala228Ser) c.713-1775G>T (n.713-1775G>T) c.937G>T (p.Ala313Ser) c.866-1775G>T (n.866-1775G>T) | |
| 12 | g.109800687C>G | CA386655370 | TRPV4 | c.784G>C (p.Ala262Pro) c.813G>C (p.Glu271Asp) n.815G>C c.682G>C (p.Ala228Pro) c.713-1775G>C (n.713-1775G>C) c.937G>C (p.Ala313Pro) c.866-1775G>C (n.866-1775G>C) | |
| 12 | g.109800687C>T | CA386655371 | TRPV4 | c.784G>A (p.Ala262Thr) c.813G>A (p.Glu271=) n.815G>A c.682G>A (p.Ala228Thr) c.713-1775G>A (n.713-1775G>A) c.937G>A (p.Ala313Thr) c.866-1775G>A (n.866-1775G>A) | |
| 12 | g.109800688T>A | CA481719192 | TRPV4 | c.783A>T (p.Gly261=) c.812A>T (p.Glu271Val) n.814A>T c.681A>T (p.Gly227=) c.713-1776A>T (n.713-1776A>T) c.936A>T (p.Gly312=) c.866-1776A>T (n.866-1776A>T) | |
| 12 | g.109800688T>C | CA481719193 | TRPV4 | c.783A>G (p.Gly261=) c.812A>G (p.Glu271Gly) n.814A>G c.681A>G (p.Gly227=) c.713-1776A>G (n.713-1776A>G) c.936A>G (p.Gly312=) c.866-1776A>G (n.866-1776A>G) | |
| 12 | g.109800688T>G | CA481719194 | TRPV4 | c.783A>C (p.Gly261=) c.812A>C (p.Glu271Ala) n.814A>C c.681A>C (p.Gly227=) c.713-1776A>C (n.713-1776A>C) c.936A>C (p.Gly312=) c.866-1776A>C (n.866-1776A>C) | |
| 12 | g.109800689C>A | CA386655372 | TRPV4 | c.782G>T (p.Gly261Val) c.811G>T (p.Glu271Ter) n.813G>T c.680G>T (p.Gly227Val) c.713-1777G>T (n.713-1777G>T) c.935G>T (p.Gly312Val) c.866-1777G>T (n.866-1777G>T) | |
| 12 | g.109800689C>G | CA386655373 | TRPV4 | c.782G>C (p.Gly261Ala) c.811G>C (p.Glu271Gln) n.813G>C c.680G>C (p.Gly227Ala) c.713-1777G>C (n.713-1777G>C) c.935G>C (p.Gly312Ala) c.866-1777G>C (n.866-1777G>C) | |
| 12 | g.109800689C>T | CA386655374 | TRPV4 | c.782G>A (p.Gly261Glu) c.811G>A (p.Glu271Lys) n.813G>A c.680G>A (p.Gly227Glu) c.713-1777G>A (n.713-1777G>A) c.935G>A (p.Gly312Glu) c.866-1777G>A (n.866-1777G>A) | |
| 12 | g.109800690C>A | CA386655375 | TRPV4 | c.781G>T (p.Gly261Ter) c.810G>T (p.Arg270Ser) n.812G>T c.679G>T (p.Gly227Ter) c.713-1778G>T (n.713-1778G>T) c.934G>T (p.Gly312Ter) c.866-1778G>T (n.866-1778G>T) | |
| 12 | g.109800690C= | CA2062574799 | TRPV4 | c.781G= (p.Gly261=) c.810G= (p.Arg270=) n.812G= c.679G= (p.Gly227=) c.713-1778G= (n.713-1778G=) c.934G= (p.Gly312=) c.866-1778G= (n.866-1778G=) | |
| 12 | g.109800690C>G | CA386655377 | TRPV4 | c.781G>C (p.Gly261Arg) c.810G>C (p.Arg270Ser) n.812G>C c.679G>C (p.Gly227Arg) c.713-1778G>C (n.713-1778G>C) c.934G>C (p.Gly312Arg) c.866-1778G>C (n.866-1778G>C) | |
| 12 | g.109800690C>T | CA386655376 | TRPV4 | c.781G>A (p.Gly261Arg) c.810G>A (p.Arg270=) n.812G>A c.679G>A (p.Gly227Arg) c.713-1778G>A (n.713-1778G>A) c.934G>A (p.Gly312Arg) c.866-1778G>A (n.866-1778G>A) | ClinVar dbSNP |
| 12 | g.109800691C>A | CA386655378 | TRPV4 | c.780G>T (p.Gln260His) c.809G>T (p.Arg270Met) n.811G>T c.678G>T (p.Gln226His) c.713-1779G>T (n.713-1779G>T) c.933G>T (p.Gln311His) c.866-1779G>T (n.866-1779G>T) | |
| 12 | g.109800691C>G | CA386655379 | TRPV4 | c.780G>C (p.Gln260His) c.809G>C (p.Arg270Thr) n.811G>C c.678G>C (p.Gln226His) c.713-1779G>C (n.713-1779G>C) c.933G>C (p.Gln311His) c.866-1779G>C (n.866-1779G>C) | |
| 12 | g.109800691C>T | CA481719195 | TRPV4 | c.780G>A (p.Gln260=) c.809G>A (p.Arg270Lys) n.811G>A c.678G>A (p.Gln226=) c.713-1779G>A (n.713-1779G>A) c.933G>A (p.Gln311=) c.866-1779G>A (n.866-1779G>A) | |
| 12 | g.109800692T>A | CA386655380 | TRPV4 | c.779A>T (p.Gln260Leu) c.808A>T (p.Arg270Trp) n.810A>T c.677A>T (p.Gln226Leu) c.713-1780A>T (n.713-1780A>T) c.932A>T (p.Gln311Leu) c.866-1780A>T (n.866-1780A>T) | |
| 12 | g.109800692T>C | CA386655381 | TRPV4 | c.779A>G (p.Gln260Arg) c.808A>G (p.Arg270Gly) n.810A>G c.677A>G (p.Gln226Arg) c.713-1780A>G (n.713-1780A>G) c.932A>G (p.Gln311Arg) c.866-1780A>G (n.866-1780A>G) | COSMIC |
| 12 | g.109800692T>G | CA386655382 | TRPV4 | c.779A>C (p.Gln260Pro) c.808A>C (p.Arg270=) n.810A>C c.677A>C (p.Gln226Pro) c.713-1780A>C (n.713-1780A>C) c.932A>C (p.Gln311Pro) c.866-1780A>C (n.866-1780A>C) | |
| 12 | g.109800693G>A | CA386655385 | TRPV4 | c.778C>T (p.Gln260Ter) c.807C>T (p.Pro269=) n.809C>T c.676C>T (p.Gln226Ter) c.713-1781C>T (n.713-1781C>T) c.931C>T (p.Gln311Ter) c.866-1781C>T (n.866-1781C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109800693G>C | CA386655384 | TRPV4 | c.778C>G (p.Gln260Glu) c.807C>G (p.Pro269=) n.809C>G c.676C>G (p.Gln226Glu) c.713-1781C>G (n.713-1781C>G) c.931C>G (p.Gln311Glu) c.866-1781C>G (n.866-1781C>G) | |
| 12 | g.109800693G= | CA2062574801 | TRPV4 | c.778C= (p.Gln260=) c.807C= (p.Pro269=) n.809C= c.676C= (p.Gln226=) c.713-1781C= (n.713-1781C=) c.931C= (p.Gln311=) c.866-1781C= (n.866-1781C=) | |
| 12 | g.109800693G>T | CA386655383 | TRPV4 | c.778C>A (p.Gln260Lys) c.807C>A (p.Pro269=) n.809C>A c.676C>A (p.Gln226Lys) c.713-1781C>A (n.713-1781C>A) c.931C>A (p.Gln311Lys) c.866-1781C>A (n.866-1781C>A) | |
| 12 | g.109800694G>A | CA481719198 | TRPV4 | c.777C>T (p.Ala259=) c.806C>T (p.Pro269Leu) n.808C>T c.675C>T (p.Ala225=) c.713-1782C>T (n.713-1782C>T) c.930C>T (p.Ala310=) c.866-1782C>T (n.866-1782C>T) | |
| 12 | g.109800694G>C | CA481719197 | TRPV4 | c.777C>G (p.Ala259=) c.806C>G (p.Pro269Arg) n.808C>G c.675C>G (p.Ala225=) c.713-1782C>G (n.713-1782C>G) c.930C>G (p.Ala310=) c.866-1782C>G (n.866-1782C>G) | |
| 12 | g.109800694G>T | CA481719196 | TRPV4 | c.777C>A (p.Ala259=) c.806C>A (p.Pro269His) n.808C>A c.675C>A (p.Ala225=) c.713-1782C>A (n.713-1782C>A) c.930C>A (p.Ala310=) c.866-1782C>A (n.866-1782C>A) | |
| 12 | g.109800695G>A | CA386655386 | TRPV4 | c.776C>T (p.Ala259Val) c.805C>T (p.Pro269Ser) n.807C>T c.674C>T (p.Ala225Val) c.713-1783C>T (n.713-1783C>T) c.929C>T (p.Ala310Val) c.866-1783C>T (n.866-1783C>T) | |
| 12 | g.109800695G>C | CA386655387 | TRPV4 | c.776C>G (p.Ala259Gly) c.805C>G (p.Pro269Ala) n.807C>G c.674C>G (p.Ala225Gly) c.713-1783C>G (n.713-1783C>G) c.929C>G (p.Ala310Gly) c.866-1783C>G (n.866-1783C>G) | |
| 12 | g.109800695G>T | CA386655388 | TRPV4 | c.776C>A (p.Ala259Asp) c.805C>A (p.Pro269Thr) n.807C>A c.674C>A (p.Ala225Asp) c.713-1783C>A (n.713-1783C>A) c.929C>A (p.Ala310Asp) c.866-1783C>A (n.866-1783C>A) | |
| 12 | g.109800696C>A | CA386655389 | TRPV4 | c.775G>T (p.Ala259Ser) c.804G>T (p.Trp268Cys) n.806G>T c.673G>T (p.Ala225Ser) c.713-1784G>T (n.713-1784G>T) c.928G>T (p.Ala310Ser) c.866-1784G>T (n.866-1784G>T) | |
| 12 | g.109800696C>G | CA386655390 | TRPV4 | c.775G>C (p.Ala259Pro) c.804G>C (p.Trp268Cys) n.806G>C c.673G>C (p.Ala225Pro) c.713-1784G>C (n.713-1784G>C) c.928G>C (p.Ala310Pro) c.866-1784G>C (n.866-1784G>C) | |
| 12 | g.109800696C>T | CA386655391 | TRPV4 | c.775G>A (p.Ala259Thr) c.804G>A (p.Trp268Ter) n.806G>A c.673G>A (p.Ala225Thr) c.713-1784G>A (n.713-1784G>A) c.928G>A (p.Ala310Thr) c.866-1784G>A (n.866-1784G>A) | |
| 12 | g.109800697C>A | CA481719201 | TRPV4 | c.774G>T (p.Val258=) c.803G>T (p.Trp268Leu) n.805G>T c.672G>T (p.Val224=) c.713-1785G>T (n.713-1785G>T) c.927G>T (p.Val309=) c.866-1785G>T (n.866-1785G>T) | |
| 12 | g.109800697C>G | CA481719200 | TRPV4 | c.774G>C (p.Val258=) c.803G>C (p.Trp268Ser) n.805G>C c.672G>C (p.Val224=) c.713-1785G>C (n.713-1785G>C) c.927G>C (p.Val309=) c.866-1785G>C (n.866-1785G>C) | |
| 12 | g.109800697C>T | CA481719199 | TRPV4 | c.774G>A (p.Val258=) c.803G>A (p.Trp268Ter) n.805G>A c.672G>A (p.Val224=) c.713-1785G>A (n.713-1785G>A) c.927G>A (p.Val309=) c.866-1785G>A (n.866-1785G>A) | |
| 12 | g.109800698A= | CA2062574804 | TRPV4 | c.773T= (p.Val258=) c.802T= (p.Trp268=) n.804T= c.671T= (p.Val224=) c.713-1786T= (n.713-1786T=) c.926T= (p.Val309=) c.866-1786T= (n.866-1786T=) | |
| 12 | g.109800698A>C | CA386655392 | TRPV4 | c.773T>G (p.Val258Gly) c.802T>G (p.Trp268Gly) n.804T>G c.671T>G (p.Val224Gly) c.713-1786T>G (n.713-1786T>G) c.926T>G (p.Val309Gly) c.866-1786T>G (n.866-1786T>G) | |
| 12 | g.109800698A>G | CA386655394 | TRPV4 | c.773T>C (p.Val258Ala) c.802T>C (p.Trp268Arg) n.804T>C c.671T>C (p.Val224Ala) c.713-1786T>C (n.713-1786T>C) c.926T>C (p.Val309Ala) c.866-1786T>C (n.866-1786T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109800698A>T | CA386655393 | TRPV4 | c.773T>A (p.Val258Glu) c.802T>A (p.Trp268Arg) n.804T>A c.671T>A (p.Val224Glu) c.713-1786T>A (n.713-1786T>A) c.926T>A (p.Val309Glu) c.866-1786T>A (n.866-1786T>A) | |
| 12 | g.109800699C>A | CA386655395 | TRPV4 | c.772G>T (p.Val258Leu) c.801G>T (p.Ser267=) n.803G>T c.670G>T (p.Val224Leu) c.713-1787G>T (n.713-1787G>T) c.925G>T (p.Val309Leu) c.866-1787G>T (n.866-1787G>T) | gnomAD v4 |
| 12 | g.109800699C= | CA2062574810 | TRPV4 | c.772G= (p.Val258=) c.801G= (p.Ser267=) n.803G= c.670G= (p.Val224=) c.713-1787G= (n.713-1787G=) c.925G= (p.Val309=) c.866-1787G= (n.866-1787G=) | |
| 12 | g.109800699C>G | CA386655396 | TRPV4 | c.772G>C (p.Val258Leu) c.801G>C (p.Ser267=) n.803G>C c.670G>C (p.Val224Leu) c.713-1787G>C (n.713-1787G>C) c.925G>C (p.Val309Leu) c.866-1787G>C (n.866-1787G>C) | gnomAD v4 |
| 12 | g.109800699C>T | CA6780424 | TRPV4 | c.772G>A (p.Val258Met) c.801G>A (p.Ser267=) n.803G>A c.670G>A (p.Val224Met) c.713-1787G>A (n.713-1787G>A) c.925G>A (p.Val309Met) c.866-1787G>A (n.866-1787G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800700del | CA2620823789 | TRPV4 | c.771del (p.Val258TrpfsTer?) c.800del (p.Ser267CysfsTer6) n.802del c.669del (p.Val224TrpfsTer?) c.713-1788del (n.713-1788del) c.924del (p.Val309TrpfsTer?) c.866-1788del (n.866-1788del) | gnomAD v4 |
| 12 | g.109800700G>A | CA6780426 | TRPV4 | c.771C>T (p.Leu257=) c.800C>T (p.Ser267Leu) n.802C>T c.669C>T (p.Leu223=) c.713-1788C>T (n.713-1788C>T) c.924C>T (p.Leu308=) c.866-1788C>T (n.866-1788C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109800700G>C | CA481719202 | TRPV4 | c.771C>G (p.Leu257=) c.800C>G (p.Ser267Trp) n.802C>G c.669C>G (p.Leu223=) c.713-1788C>G (n.713-1788C>G) c.924C>G (p.Leu308=) c.866-1788C>G (n.866-1788C>G) | |
| 12 | g.109800700G= | CA2062574811 | TRPV4 | c.771C= (p.Leu257=) c.800C= (p.Ser267=) n.802C= c.669C= (p.Leu223=) c.713-1788C= (n.713-1788C=) c.924C= (p.Leu308=) c.866-1788C= (n.866-1788C=) | |
| 12 | g.109800700G>T | CA6780425 | TRPV4 | c.771C>A (p.Leu257=) c.800C>A (p.Ser267Ter) n.802C>A c.669C>A (p.Leu223=) c.713-1788C>A (n.713-1788C>A) c.924C>A (p.Leu308=) c.866-1788C>A (n.866-1788C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109800701A>C | CA386655397 | TRPV4 | c.770T>G (p.Leu257Arg) c.799T>G (p.Ser267Ala) n.801T>G c.668T>G (p.Leu223Arg) c.713-1789T>G (n.713-1789T>G) c.923T>G (p.Leu308Arg) c.866-1789T>G (n.866-1789T>G) | |
| 12 | g.109800701A>G | CA386655398 | TRPV4 | c.770T>C (p.Leu257Pro) c.799T>C (p.Ser267Pro) n.801T>C c.668T>C (p.Leu223Pro) c.713-1789T>C (n.713-1789T>C) c.923T>C (p.Leu308Pro) c.866-1789T>C (n.866-1789T>C) | |
| 12 | g.109800701A>T | CA386655399 | TRPV4 | c.770T>A (p.Leu257His) c.799T>A (p.Ser267Thr) n.801T>A c.668T>A (p.Leu223His) c.713-1789T>A (n.713-1789T>A) c.923T>A (p.Leu308His) c.866-1789T>A (n.866-1789T>A) | |
| 12 | g.109800702G>A | CA386655400 | TRPV4 | c.769C>T (p.Leu257Phe) c.798C>T (p.Phe266=) n.800C>T c.667C>T (p.Leu223Phe) c.713-1790C>T (n.713-1790C>T) c.922C>T (p.Leu308Phe) c.866-1790C>T (n.866-1790C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109800702G>C | CA339152 | TRPV4 | c.769C>G (p.Leu257Val) c.798C>G (p.Phe266Leu) n.800C>G c.667C>G (p.Leu223Val) c.713-1790C>G (n.713-1790C>G) c.922C>G (p.Leu308Val) c.866-1790C>G (n.866-1790C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800702G= | CA2062574817 | TRPV4 | c.769C= (p.Leu257=) c.798C= (p.Phe266=) n.800C= c.667C= (p.Leu223=) c.713-1790C= (n.713-1790C=) c.922C= (p.Leu308=) c.866-1790C= (n.866-1790C=) | |
| 12 | g.109800702G>T | CA386655401 | TRPV4 | c.769C>A (p.Leu257Ile) c.798C>A (p.Phe266Leu) n.800C>A c.667C>A (p.Leu223Ile) c.713-1790C>A (n.713-1790C>A) c.922C>A (p.Leu308Ile) c.866-1790C>A (n.866-1790C>A) | |
| 12 | g.109800703A>C | CA481719203 | TRPV4 | c.768T>G (p.Leu256=) c.797T>G (p.Phe266Cys) n.799T>G c.666T>G (p.Leu222=) c.713-1791T>G (n.713-1791T>G) c.921T>G (p.Leu307=) c.866-1791T>G (n.866-1791T>G) | |
| 12 | g.109800703A>G | CA481719204 | TRPV4 | c.768T>C (p.Leu256=) c.797T>C (p.Phe266Ser) n.799T>C c.666T>C (p.Leu222=) c.713-1791T>C (n.713-1791T>C) c.921T>C (p.Leu307=) c.866-1791T>C (n.866-1791T>C) | |
| 12 | g.109800703A>T | CA481719205 | TRPV4 | c.768T>A (p.Leu256=) c.797T>A (p.Phe266Tyr) n.799T>A c.666T>A (p.Leu222=) c.713-1791T>A (n.713-1791T>A) c.921T>A (p.Leu307=) c.866-1791T>A (n.866-1791T>A) | |
| 12 | g.109800704A>C | CA386655403 | TRPV4 | c.767T>G (p.Leu256Arg) c.796T>G (p.Phe266Val) n.798T>G c.665T>G (p.Leu222Arg) c.713-1792T>G (n.713-1792T>G) c.920T>G (p.Leu307Arg) c.866-1792T>G (n.866-1792T>G) | |
| 12 | g.109800704A>G | CA386655404 | TRPV4 | c.767T>C (p.Leu256Pro) c.796T>C (p.Phe266Leu) n.798T>C c.665T>C (p.Leu222Pro) c.713-1792T>C (n.713-1792T>C) c.920T>C (p.Leu307Pro) c.866-1792T>C (n.866-1792T>C) | |
| 12 | g.109800704A>T | CA386655402 | TRPV4 | c.767T>A (p.Leu256His) c.796T>A (p.Phe266Ile) n.798T>A c.665T>A (p.Leu222His) c.713-1792T>A (n.713-1792T>A) c.920T>A (p.Leu307His) c.866-1792T>A (n.866-1792T>A) | |
| 12 | g.109800705G>A | CA386655406 | TRPV4 | c.766C>T (p.Leu256Phe) c.795C>T (p.Asn265=) n.797C>T c.664C>T (p.Leu222Phe) c.713-1793C>T (n.713-1793C>T) c.919C>T (p.Leu307Phe) c.866-1793C>T (n.866-1793C>T) | dbSNP |
| 12 | g.109800705G>C | CA386655405 | TRPV4 | c.766C>G (p.Leu256Val) c.795C>G (p.Asn265Lys) n.797C>G c.664C>G (p.Leu222Val) c.713-1793C>G (n.713-1793C>G) c.919C>G (p.Leu307Val) c.866-1793C>G (n.866-1793C>G) | |
| 12 | g.109800705G= | CA2062574818 | TRPV4 | c.766C= (p.Leu256=) c.795C= (p.Asn265=) n.797C= c.664C= (p.Leu222=) c.713-1793C= (n.713-1793C=) c.919C= (p.Leu307=) c.866-1793C= (n.866-1793C=) | |
| 12 | g.109800705G>T | CA386655407 | TRPV4 | c.766C>A (p.Leu256Ile) c.795C>A (p.Asn265Lys) n.797C>A c.664C>A (p.Leu222Ile) c.713-1793C>A (n.713-1793C>A) c.919C>A (p.Leu307Ile) c.866-1793C>A (n.866-1793C>A) | |
| 12 | g.109800706T>A | CA386655408 | TRPV4 | c.765A>T (p.Glu255Asp) c.794A>T (p.Asn265Ile) n.796A>T c.663A>T (p.Glu221Asp) c.713-1794A>T (n.713-1794A>T) c.918A>T (p.Glu306Asp) c.866-1794A>T (n.866-1794A>T) | |
| 12 | g.109800706T>C | CA481719206 | TRPV4 | c.765A>G (p.Glu255=) c.794A>G (p.Asn265Ser) n.796A>G c.663A>G (p.Glu221=) c.713-1794A>G (n.713-1794A>G) c.918A>G (p.Glu306=) c.866-1794A>G (n.866-1794A>G) | |
| 12 | g.109800706T>G | CA386655409 | TRPV4 | c.765A>C (p.Glu255Asp) c.794A>C (p.Asn265Thr) n.796A>C c.663A>C (p.Glu221Asp) c.713-1794A>C (n.713-1794A>C) c.918A>C (p.Glu306Asp) c.866-1794A>C (n.866-1794A>C) | |
| 12 | g.109800707T>A | CA386655410 | TRPV4 | c.764A>T (p.Glu255Val) c.793A>T (p.Asn265Tyr) n.795A>T c.662A>T (p.Glu221Val) c.713-1795A>T (n.713-1795A>T) c.917A>T (p.Glu306Val) c.866-1795A>T (n.866-1795A>T) | |
| 12 | g.109800707T>C | CA386655412 | TRPV4 | c.764A>G (p.Glu255Gly) c.793A>G (p.Asn265Asp) n.795A>G c.662A>G (p.Glu221Gly) c.713-1795A>G (n.713-1795A>G) c.917A>G (p.Glu306Gly) c.866-1795A>G (n.866-1795A>G) | |
| 12 | g.109800707T>G | CA386655411 | TRPV4 | c.764A>C (p.Glu255Ala) c.793A>C (p.Asn265His) n.795A>C c.662A>C (p.Glu221Ala) c.713-1795A>C (n.713-1795A>C) c.917A>C (p.Glu306Ala) c.866-1795A>C (n.866-1795A>C) | |
| 12 | g.109800707_109800710delinsTCCA | CA2062574820 | TRPV4 | c.761_764delinsTGGA (p.Val254=) c.790_793delinsTGGA (p.Trp264=) n.792_795delinsTGGA c.659_662delinsTGGA (p.Val220=) c.713-1798_713-1795delinsTGGA (n.713-1798_713-1795delinsTGGA) c.914_917delinsTGGA (p.Val305=) c.866-1798_866-1795delinsTGGA (n.866-1798_866-1795delinsTGGA) | |
| 12 | g.109800708C>A | CA386655413 | TRPV4 | c.763G>T (p.Glu255Ter) c.792G>T (p.Trp264Cys) n.794G>T c.661G>T (p.Glu221Ter) c.713-1796G>T (n.713-1796G>T) c.916G>T (p.Glu306Ter) c.866-1796G>T (n.866-1796G>T) | |
| 12 | g.109800708C>G | CA386655415 | TRPV4 | c.763G>C (p.Glu255Gln) c.792G>C (p.Trp264Cys) n.794G>C c.661G>C (p.Glu221Gln) c.713-1796G>C (n.713-1796G>C) c.916G>C (p.Glu306Gln) c.866-1796G>C (n.866-1796G>C) | |
| 12 | g.109800708C>T | CA386655414 | TRPV4 | c.763G>A (p.Glu255Lys) c.792G>A (p.Trp264Ter) n.794G>A c.661G>A (p.Glu221Lys) c.713-1796G>A (n.713-1796G>A) c.916G>A (p.Glu306Lys) c.866-1796G>A (n.866-1796G>A) | gnomAD v4 |
| 12 | g.109800709_109800711del | CA2062574822 | TRPV4 | c.761_763del (p.Val254del) c.790_792del (p.Trp264del) n.792_794del c.659_661del (p.Val220del) c.713-1798_713-1796del (n.713-1798_713-1796del) c.914_916del (p.Val305del) c.866-1798_866-1796del (n.866-1798_866-1796del) | ClinVar dbSNP |
| 12 | g.109800709C>A | CA481719207 | TRPV4 | c.762G>T (p.Val254=) c.791G>T (p.Trp264Leu) n.793G>T c.660G>T (p.Val220=) c.713-1797G>T (n.713-1797G>T) c.915G>T (p.Val305=) c.866-1797G>T (n.866-1797G>T) | |
| 12 | g.109800709C>G | CA481719208 | TRPV4 | c.762G>C (p.Val254=) c.791G>C (p.Trp264Ser) n.793G>C c.660G>C (p.Val220=) c.713-1797G>C (n.713-1797G>C) c.915G>C (p.Val305=) c.866-1797G>C (n.866-1797G>C) | |
| 12 | g.109800709C>T | CA481719209 | TRPV4 | c.762G>A (p.Val254=) c.791G>A (p.Trp264Ter) n.793G>A c.660G>A (p.Val220=) c.713-1797G>A (n.713-1797G>A) c.915G>A (p.Val305=) c.866-1797G>A (n.866-1797G>A) | ClinVar dbSNP |
| 12 | g.109800710A>C | CA386655416 | TRPV4 | c.761T>G (p.Val254Gly) c.790T>G (p.Trp264Gly) n.792T>G c.659T>G (p.Val220Gly) c.713-1798T>G (n.713-1798T>G) c.914T>G (p.Val305Gly) c.866-1798T>G (n.866-1798T>G) | |
| 12 | g.109800710A>G | CA386655418 | TRPV4 | c.761T>C (p.Val254Ala) c.790T>C (p.Trp264Arg) n.792T>C c.659T>C (p.Val220Ala) c.713-1798T>C (n.713-1798T>C) c.914T>C (p.Val305Ala) c.866-1798T>C (n.866-1798T>C) | |
| 12 | g.109800710A>T | CA386655417 | TRPV4 | c.761T>A (p.Val254Glu) c.790T>A (p.Trp264Arg) n.792T>A c.659T>A (p.Val220Glu) c.713-1798T>A (n.713-1798T>A) c.914T>A (p.Val305Glu) c.866-1798T>A (n.866-1798T>A) | |
| 12 | g.109800711C>A | CA386655419 | TRPV4 | c.760G>T (p.Val254Leu) c.789G>T (p.Thr263=) n.791G>T c.658G>T (p.Val220Leu) c.713-1799G>T (n.713-1799G>T) c.913G>T (p.Val305Leu) c.866-1799G>T (n.866-1799G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109800711C= | CA2062574829 | TRPV4 | c.760G= (p.Val254=) c.789G= (p.Thr263=) n.791G= c.658G= (p.Val220=) c.713-1799G= (n.713-1799G=) c.913G= (p.Val305=) c.866-1799G= (n.866-1799G=) | |
| 12 | g.109800711C>G | CA6780428 | TRPV4 | c.760G>C (p.Val254Leu) c.789G>C (p.Thr263=) n.791G>C c.658G>C (p.Val220Leu) c.713-1799G>C (n.713-1799G>C) c.913G>C (p.Val305Leu) c.866-1799G>C (n.866-1799G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800711C>T | CA6780427 | TRPV4 | c.760G>A (p.Val254Met) c.789G>A (p.Thr263=) n.791G>A c.658G>A (p.Val220Met) c.713-1799G>A (n.713-1799G>A) c.913G>A (p.Val305Met) c.866-1799G>A (n.866-1799G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109800712G>A | CA6780429 | TRPV4 | c.759C>T (p.Tyr253=) c.788C>T (p.Thr263Met) n.790C>T c.657C>T (p.Tyr219=) c.713-1800C>T (n.713-1800C>T) c.912C>T (p.Tyr304=) c.866-1800C>T (n.866-1800C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800712G>C | CA386655420 | TRPV4 | c.759C>G (p.Tyr253Ter) c.788C>G (p.Thr263Arg) n.790C>G c.657C>G (p.Tyr219Ter) c.713-1800C>G (n.713-1800C>G) c.912C>G (p.Tyr304Ter) c.866-1800C>G (n.866-1800C>G) | |
| 12 | g.109800712G= | CA2062574837 | TRPV4 | c.759C= (p.Tyr253=) c.788C= (p.Thr263=) n.790C= c.657C= (p.Tyr219=) c.713-1800C= (n.713-1800C=) c.912C= (p.Tyr304=) c.866-1800C= (n.866-1800C=) | |
| 12 | g.109800712G>T | CA386655421 | TRPV4 | c.759C>A (p.Tyr253Ter) c.788C>A (p.Thr263Lys) n.790C>A c.657C>A (p.Tyr219Ter) c.713-1800C>A (n.713-1800C>A) c.912C>A (p.Tyr304Ter) c.866-1800C>A (n.866-1800C>A) | |
| 12 | g.109800713T>A | CA386655422 | TRPV4 | c.758A>T (p.Tyr253Phe) c.787A>T (p.Thr263Ser) n.789A>T c.656A>T (p.Tyr219Phe) c.713-1801A>T (n.713-1801A>T) c.911A>T (p.Tyr304Phe) c.866-1801A>T (n.866-1801A>T) | |
| 12 | g.109800713T>C | CA386655423 | TRPV4 | c.758A>G (p.Tyr253Cys) c.787A>G (p.Thr263Ala) n.789A>G c.656A>G (p.Tyr219Cys) c.713-1801A>G (n.713-1801A>G) c.911A>G (p.Tyr304Cys) c.866-1801A>G (n.866-1801A>G) | |
| 12 | g.109800713T>G | CA386655424 | TRPV4 | c.758A>C (p.Tyr253Ser) c.787A>C (p.Thr263Pro) n.789A>C c.656A>C (p.Tyr219Ser) c.713-1801A>C (n.713-1801A>C) c.911A>C (p.Tyr304Ser) c.866-1801A>C (n.866-1801A>C) | |
| 12 | g.109800714A= | CA2062574840 | TRPV4 | c.757T= (p.Tyr253=) c.786T= (p.Thr262=) n.788T= c.655T= (p.Tyr219=) c.713-1802T= (n.713-1802T=) c.910T= (p.Tyr304=) c.866-1802T= (n.866-1802T=) | |
| 12 | g.109800714A>C | CA386655425 | TRPV4 | c.757T>G (p.Tyr253Asp) c.786T>G (p.Thr262=) n.788T>G c.655T>G (p.Tyr219Asp) c.713-1802T>G (n.713-1802T>G) c.910T>G (p.Tyr304Asp) c.866-1802T>G (n.866-1802T>G) | |
| 12 | g.109800714A>G | CA243469112 | TRPV4 | c.757T>C (p.Tyr253His) c.786T>C (p.Thr262=) n.788T>C c.655T>C (p.Tyr219His) c.713-1802T>C (n.713-1802T>C) c.910T>C (p.Tyr304His) c.866-1802T>C (n.866-1802T>C) | ClinVar dbSNP gnomAD v4 |
| 12 | g.109800714A>T | CA386655426 | TRPV4 | c.757T>A (p.Tyr253Asn) c.786T>A (p.Thr262=) n.788T>A c.655T>A (p.Tyr219Asn) c.713-1802T>A (n.713-1802T>A) c.910T>A (p.Tyr304Asn) c.866-1802T>A (n.866-1802T>A) | |
| 12 | g.109800715G>A | CA481719210 | TRPV4 | c.756C>T (p.His252=) c.785C>T (p.Thr262Ile) n.787C>T c.654C>T (p.His218=) c.713-1803C>T (n.713-1803C>T) c.909C>T (p.His303=) c.866-1803C>T (n.866-1803C>T) | dbSNP gnomAD v4 |
| 12 | g.109800715G>C | CA386655428 | TRPV4 | c.756C>G (p.His252Gln) c.785C>G (p.Thr262Ser) n.787C>G c.654C>G (p.His218Gln) c.713-1803C>G (n.713-1803C>G) c.909C>G (p.His303Gln) c.866-1803C>G (n.866-1803C>G) | |
| 12 | g.109800715G= | CA2062574843 | TRPV4 | c.756C= (p.His252=) c.785C= (p.Thr262=) n.787C= c.654C= (p.His218=) c.713-1803C= (n.713-1803C=) c.909C= (p.His303=) c.866-1803C= (n.866-1803C=) | |
| 12 | g.109800715G>T | CA386655427 | TRPV4 | c.756C>A (p.His252Gln) c.785C>A (p.Thr262Asn) n.787C>A c.654C>A (p.His218Gln) c.713-1803C>A (n.713-1803C>A) c.909C>A (p.His303Gln) c.866-1803C>A (n.866-1803C>A) | |
| 12 | g.109800716T>A | CA386655429 | TRPV4 | c.755A>T (p.His252Leu) c.784A>T (p.Thr262Ser) n.786A>T c.653A>T (p.His218Leu) c.713-1804A>T (n.713-1804A>T) c.908A>T (p.His303Leu) c.866-1804A>T (n.866-1804A>T) | |
| 12 | g.109800716T>C | CA386655430 | TRPV4 | c.755A>G (p.His252Arg) c.784A>G (p.Thr262Ala) n.786A>G c.653A>G (p.His218Arg) c.713-1804A>G (n.713-1804A>G) c.908A>G (p.His303Arg) c.866-1804A>G (n.866-1804A>G) | |
| 12 | g.109800716T>G | CA386655431 | TRPV4 | c.755A>C (p.His252Pro) c.784A>C (p.Thr262Pro) n.786A>C c.653A>C (p.His218Pro) c.713-1804A>C (n.713-1804A>C) c.908A>C (p.His303Pro) c.866-1804A>C (n.866-1804A>C) | |
| 12 | g.109800717G>A | CA386655432 | TRPV4 | c.754C>T (p.His252Tyr) c.783C>T (p.Asn261=) n.785C>T c.652C>T (p.His218Tyr) c.713-1805C>T (n.713-1805C>T) c.907C>T (p.His303Tyr) c.866-1805C>T (n.866-1805C>T) | dbSNP gnomAD v2 |
| 12 | g.109800717G>C | CA386655433 | TRPV4 | c.754C>G (p.His252Asp) c.783C>G (p.Asn261Lys) n.785C>G c.652C>G (p.His218Asp) c.713-1805C>G (n.713-1805C>G) c.907C>G (p.His303Asp) c.866-1805C>G (n.866-1805C>G) | |
| 12 | g.109800717G= | CA2062574846 | TRPV4 | c.754C= (p.His252=) c.783C= (p.Asn261=) n.785C= c.652C= (p.His218=) c.713-1805C= (n.713-1805C=) c.907C= (p.His303=) c.866-1805C= (n.866-1805C=) | |
| 12 | g.109800717G>T | CA386655434 | TRPV4 | c.754C>A (p.His252Asn) c.783C>A (p.Asn261Lys) n.785C>A c.652C>A (p.His218Asn) c.713-1805C>A (n.713-1805C>A) c.907C>A (p.His303Asn) c.866-1805C>A (n.866-1805C>A) | |
| 12 | g.109800718T>A | CA386655435 | TRPV4 | c.753A>T (p.Lys251Asn) c.782A>T (p.Asn261Ile) n.784A>T c.651A>T (p.Lys217Asn) c.713-1806A>T (n.713-1806A>T) c.906A>T (p.Lys302Asn) c.866-1806A>T (n.866-1806A>T) | |
| 12 | g.109800718T>C | CA481719211 | TRPV4 | c.753A>G (p.Lys251=) c.782A>G (p.Asn261Ser) n.784A>G c.651A>G (p.Lys217=) c.713-1806A>G (n.713-1806A>G) c.906A>G (p.Lys302=) c.866-1806A>G (n.866-1806A>G) | |
| 12 | g.109800718T>G | CA386655436 | TRPV4 | c.753A>C (p.Lys251Asn) c.782A>C (p.Asn261Thr) n.784A>C c.651A>C (p.Lys217Asn) c.713-1806A>C (n.713-1806A>C) c.906A>C (p.Lys302Asn) c.866-1806A>C (n.866-1806A>C) | |
| 12 | g.109800719T>A | CA386655437 | TRPV4 | c.752A>T (p.Lys251Ile) c.781A>T (p.Asn261Tyr) n.783A>T c.650A>T (p.Lys217Ile) c.713-1807A>T (n.713-1807A>T) c.905A>T (p.Lys302Ile) c.866-1807A>T (n.866-1807A>T) | |
| 12 | g.109800719T>C | CA386655438 | TRPV4 | c.752A>G (p.Lys251Arg) c.781A>G (p.Asn261Asp) n.783A>G c.650A>G (p.Lys217Arg) c.713-1807A>G (n.713-1807A>G) c.905A>G (p.Lys302Arg) c.866-1807A>G (n.866-1807A>G) | ClinVar dbSNP gnomAD v4 |
| 12 | g.109800719T>G | CA386655439 | TRPV4 | c.752A>C (p.Lys251Thr) c.781A>C (p.Asn261His) n.783A>C c.650A>C (p.Lys217Thr) c.713-1807A>C (n.713-1807A>C) c.905A>C (p.Lys302Thr) c.866-1807A>C (n.866-1807A>C) | |
| 12 | g.109800719T= | CA2062574848 | TRPV4 | c.752A= (p.Lys251=) c.781A= (p.Asn261=) n.783A= c.650A= (p.Lys217=) c.713-1807A= (n.713-1807A=) c.905A= (p.Lys302=) c.866-1807A= (n.866-1807A=) | |
| 12 | g.109800720T>A | CA386655441 | TRPV4 | c.751A>T (p.Lys251Ter) c.780A>T (p.Ala260=) n.782A>T c.649A>T (p.Lys217Ter) c.713-1808A>T (n.713-1808A>T) c.904A>T (p.Lys302Ter) c.866-1808A>T (n.866-1808A>T) | |
| 12 | g.109800720T>C | CA386655440 | TRPV4 | c.751A>G (p.Lys251Glu) c.780A>G (p.Ala260=) n.782A>G c.649A>G (p.Lys217Glu) c.713-1808A>G (n.713-1808A>G) c.904A>G (p.Lys302Glu) c.866-1808A>G (n.866-1808A>G) | |
| 12 | g.109800720T>G | CA6780430 | TRPV4 | c.751A>C (p.Lys251Gln) c.780A>C (p.Ala260=) n.782A>C c.649A>C (p.Lys217Gln) c.713-1808A>C (n.713-1808A>C) c.904A>C (p.Lys302Gln) c.866-1808A>C (n.866-1808A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800720T= | CA2062574854 | TRPV4 | c.751A= (p.Lys251=) c.780A= (p.Ala260=) n.782A= c.649A= (p.Lys217=) c.713-1808A= (n.713-1808A=) c.904A= (p.Lys302=) c.866-1808A= (n.866-1808A=) | |
| 12 | g.109800721G>A | CA481719212 | TRPV4 | c.750C>T (p.Cys250=) c.779C>T (p.Ala260Val) n.781C>T c.648C>T (p.Cys216=) c.713-1809C>T (n.713-1809C>T) c.903C>T (p.Cys301=) c.866-1809C>T (n.866-1809C>T) | |
| 12 | g.109800721G>C | CA386655442 | TRPV4 | c.750C>G (p.Cys250Trp) c.779C>G (p.Ala260Gly) n.781C>G c.648C>G (p.Cys216Trp) c.713-1809C>G (n.713-1809C>G) c.903C>G (p.Cys301Trp) c.866-1809C>G (n.866-1809C>G) | |
| 12 | g.109800721G>T | CA386655443 | TRPV4 | c.750C>A (p.Cys250Ter) c.779C>A (p.Ala260Glu) n.781C>A c.648C>A (p.Cys216Ter) c.713-1809C>A (n.713-1809C>A) c.903C>A (p.Cys301Ter) c.866-1809C>A (n.866-1809C>A) | |
| 12 | g.109800722C>A | CA243469116 | TRPV4 | c.749G>T (p.Cys250Phe) c.778G>T (p.Ala260Ser) n.780G>T c.647G>T (p.Cys216Phe) c.713-1810G>T (n.713-1810G>T) c.902G>T (p.Cys301Phe) c.866-1810G>T (n.866-1810G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109800722C= | CA2062574858 | TRPV4 | c.749G= (p.Cys250=) c.778G= (p.Ala260=) n.780G= c.647G= (p.Cys216=) c.713-1810G= (n.713-1810G=) c.902G= (p.Cys301=) c.866-1810G= (n.866-1810G=) | |
| 12 | g.109800722C>G | CA386655444 | TRPV4 | c.749G>C (p.Cys250Ser) c.778G>C (p.Ala260Pro) n.780G>C c.647G>C (p.Cys216Ser) c.713-1810G>C (n.713-1810G>C) c.902G>C (p.Cys301Ser) c.866-1810G>C (n.866-1810G>C) | |
| 12 | g.109800722C>T | CA386655445 | TRPV4 | c.749G>A (p.Cys250Tyr) c.778G>A (p.Ala260Thr) n.780G>A c.647G>A (p.Cys216Tyr) c.713-1810G>A (n.713-1810G>A) c.902G>A (p.Cys301Tyr) c.866-1810G>A (n.866-1810G>A) | ClinVar dbSNP |
| 12 | g.109800723A= | CA2062574863 | TRPV4 | c.748T= (p.Cys250=) c.777T= (p.Ala259=) n.779T= c.646T= (p.Cys216=) c.713-1811T= (n.713-1811T=) c.901T= (p.Cys301=) c.866-1811T= (n.866-1811T=) | |
| 12 | g.109800723A>C | CA386655447 | TRPV4 | c.748T>G (p.Cys250Gly) c.777T>G (p.Ala259=) n.779T>G c.646T>G (p.Cys216Gly) c.713-1811T>G (n.713-1811T>G) c.901T>G (p.Cys301Gly) c.866-1811T>G (n.866-1811T>G) | |
| 12 | g.109800723A>G | CA6780431 | TRPV4 | c.748T>C (p.Cys250Arg) c.777T>C (p.Ala259=) n.779T>C c.646T>C (p.Cys216Arg) c.713-1811T>C (n.713-1811T>C) c.901T>C (p.Cys301Arg) c.866-1811T>C (n.866-1811T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800723A>T | CA386655446 | TRPV4 | c.748T>A (p.Cys250Ser) c.777T>A (p.Ala259=) n.779T>A c.646T>A (p.Cys216Ser) c.713-1811T>A (n.713-1811T>A) c.901T>A (p.Cys301Ser) c.866-1811T>A (n.866-1811T>A) | |
| 12 | g.109800724G>A | CA481719213 | TRPV4 | c.747C>T (p.Arg249=) c.776C>T (p.Ala259Val) n.778C>T c.645C>T (p.Arg215=) c.713-1812C>T (n.713-1812C>T) c.900C>T (p.Arg300=) c.866-1812C>T (n.866-1812C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109800724G>C | CA481719214 | TRPV4 | c.747C>G (p.Arg249=) c.776C>G (p.Ala259Gly) n.778C>G c.645C>G (p.Arg215=) c.713-1812C>G (n.713-1812C>G) c.900C>G (p.Arg300=) c.866-1812C>G (n.866-1812C>G) | |
| 12 | g.109800724G= | CA2062574866 | TRPV4 | c.747C= (p.Arg249=) c.776C= (p.Ala259=) n.778C= c.645C= (p.Arg215=) c.713-1812C= (n.713-1812C=) c.900C= (p.Arg300=) c.866-1812C= (n.866-1812C=) | |
| 12 | g.109800724G>T | CA481719215 | TRPV4 | c.747C>A (p.Arg249=) c.776C>A (p.Ala259Asp) n.778C>A c.645C>A (p.Arg215=) c.713-1812C>A (n.713-1812C>A) c.900C>A (p.Arg300=) c.866-1812C>A (n.866-1812C>A) | |
| 12 | g.109800728_109800740del | CA2575286529 | TRPV4 | c.735_747del (p.Ile246AlafsTer?) c.764_776del (p.Pro255LeufsTer14) n.766_778del c.633_645del (p.Ile212AlafsTer?) c.713-1824_713-1812del (n.713-1824_713-1812del) c.888_900del (p.Ile297AlafsTer?) c.866-1824_866-1812del (n.866-1824_866-1812del) | |
| 12 | g.109800725C>A | CA386655448 | TRPV4 | c.746G>T (p.Arg249Leu) c.775G>T (p.Ala259Ser) n.777G>T c.644G>T (p.Arg215Leu) c.713-1813G>T (n.713-1813G>T) c.899G>T (p.Arg300Leu) c.866-1813G>T (n.866-1813G>T) | dbSNP gnomAD v2 |
| 12 | g.109800725C= | CA2062574870 | TRPV4 | c.746G= (p.Arg249=) c.775G= (p.Ala259=) n.777G= c.644G= (p.Arg215=) c.713-1813G= (n.713-1813G=) c.899G= (p.Arg300=) c.866-1813G= (n.866-1813G=) | |
| 12 | g.109800725C>G | CA386655449 | TRPV4 | c.746G>C (p.Arg249Pro) c.775G>C (p.Ala259Pro) n.777G>C c.644G>C (p.Arg215Pro) c.713-1813G>C (n.713-1813G>C) c.899G>C (p.Arg300Pro) c.866-1813G>C (n.866-1813G>C) | |
| 12 | g.109800725C>T | CA6780432 | TRPV4 | c.746G>A (p.Arg249His) c.775G>A (p.Ala259Thr) n.777G>A c.644G>A (p.Arg215His) c.713-1813G>A (n.713-1813G>A) c.899G>A (p.Arg300His) c.866-1813G>A (n.866-1813G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109800726G>A | CA6780433 | TRPV4 | c.745C>T (p.Arg249Cys) c.774C>T (p.Val258=) n.776C>T c.643C>T (p.Arg215Cys) c.713-1814C>T (n.713-1814C>T) c.898C>T (p.Arg300Cys) c.866-1814C>T (n.866-1814C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800726G>C | CA386655450 | TRPV4 | c.745C>G (p.Arg249Gly) c.774C>G (p.Val258=) n.776C>G c.643C>G (p.Arg215Gly) c.713-1814C>G (n.713-1814C>G) c.898C>G (p.Arg300Gly) c.866-1814C>G (n.866-1814C>G) | ClinVar |
| 12 | g.109800726G= | CA2062574876 | TRPV4 | c.745C= (p.Arg249=) c.774C= (p.Val258=) n.776C= c.643C= (p.Arg215=) c.713-1814C= (n.713-1814C=) c.898C= (p.Arg300=) c.866-1814C= (n.866-1814C=) | |
| 12 | g.109800726G>T | CA386655451 | TRPV4 | c.745C>A (p.Arg249Ser) c.774C>A (p.Val258=) n.776C>A c.643C>A (p.Arg215Ser) c.713-1814C>A (n.713-1814C>A) c.898C>A (p.Arg300Ser) c.866-1814C>A (n.866-1814C>A) | |
| 12 | g.109800727A>C | CA481719218 | TRPV4 | c.744T>G (p.Arg248=) c.773T>G (p.Val258Gly) n.775T>G c.642T>G (p.Arg214=) c.713-1815T>G (n.713-1815T>G) c.897T>G (p.Arg299=) c.866-1815T>G (n.866-1815T>G) | |
| 12 | g.109800727A>G | CA481719216 | TRPV4 | c.744T>C (p.Arg248=) c.773T>C (p.Val258Ala) n.775T>C c.642T>C (p.Arg214=) c.713-1815T>C (n.713-1815T>C) c.897T>C (p.Arg299=) c.866-1815T>C (n.866-1815T>C) | |
| 12 | g.109800727A>T | CA481719217 | TRPV4 | c.744T>A (p.Arg248=) c.773T>A (p.Val258Asp) n.775T>A c.642T>A (p.Arg214=) c.713-1815T>A (n.713-1815T>A) c.897T>A (p.Arg299=) c.866-1815T>A (n.866-1815T>A) | |
| 12 | g.109800728C>A | CA386655452 | TRPV4 | c.743G>T (p.Arg248Leu) c.772G>T (p.Val258Phe) n.774G>T c.641G>T (p.Arg214Leu) c.713-1816G>T (n.713-1816G>T) c.896G>T (p.Arg299Leu) c.866-1816G>T (n.866-1816G>T) | gnomAD v4 |
| 12 | g.109800728C= | CA2062574880 | TRPV4 | c.743G= (p.Arg248=) c.772G= (p.Val258=) n.774G= c.641G= (p.Arg214=) c.713-1816G= (n.713-1816G=) c.896G= (p.Arg299=) c.866-1816G= (n.866-1816G=) | |
| 12 | g.109800728C>G | CA386655453 | TRPV4 | c.743G>C (p.Arg248Pro) c.772G>C (p.Val258Leu) n.774G>C c.641G>C (p.Arg214Pro) c.713-1816G>C (n.713-1816G>C) c.896G>C (p.Arg299Pro) c.866-1816G>C (n.866-1816G>C) | |
| 12 | g.109800728C>T | CA6780434 | TRPV4 | c.743G>A (p.Arg248His) c.772G>A (p.Val258Ile) n.774G>A c.641G>A (p.Arg214His) c.713-1816G>A (n.713-1816G>A) c.896G>A (p.Arg299His) c.866-1816G>A (n.866-1816G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.109800729G>A | CA6780435 | TRPV4 | c.742C>T (p.Arg248Cys) c.771C>T (p.Ser257=) n.773C>T c.640C>T (p.Arg214Cys) c.713-1817C>T (n.713-1817C>T) c.895C>T (p.Arg299Cys) c.866-1817C>T (n.866-1817C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800729G>C | CA386655454 | TRPV4 | c.742C>G (p.Arg248Gly) c.771C>G (p.Ser257Arg) n.773C>G c.640C>G (p.Arg214Gly) c.713-1817C>G (n.713-1817C>G) c.895C>G (p.Arg299Gly) c.866-1817C>G (n.866-1817C>G) | gnomAD v4 |
| 12 | g.109800729G= | CA2062574886 | TRPV4 | c.742C= (p.Arg248=) c.771C= (p.Ser257=) n.773C= c.640C= (p.Arg214=) c.713-1817C= (n.713-1817C=) c.895C= (p.Arg299=) c.866-1817C= (n.866-1817C=) | |
| 12 | g.109800729G>T | CA386655455 | TRPV4 | c.742C>A (p.Arg248Ser) c.771C>A (p.Ser257Arg) n.773C>A c.640C>A (p.Arg214Ser) c.713-1817C>A (n.713-1817C>A) c.895C>A (p.Arg299Ser) c.866-1817C>A (n.866-1817C>A) | |
| 12 | g.109800730C>A | CA386655456 | TRPV4 | c.741G>T (p.Glu247Asp) c.770G>T (p.Ser257Ile) n.772G>T c.639G>T (p.Glu213Asp) c.713-1818G>T (n.713-1818G>T) c.894G>T (p.Glu298Asp) c.866-1818G>T (n.866-1818G>T) | |
| 12 | g.109800730C>G | CA386655457 | TRPV4 | c.741G>C (p.Glu247Asp) c.770G>C (p.Ser257Thr) n.772G>C c.639G>C (p.Glu213Asp) c.713-1818G>C (n.713-1818G>C) c.894G>C (p.Glu298Asp) c.866-1818G>C (n.866-1818G>C) | |
| 12 | g.109800730C>T | CA481719219 | TRPV4 | c.741G>A (p.Glu247=) c.770G>A (p.Ser257Asn) n.772G>A c.639G>A (p.Glu213=) c.713-1818G>A (n.713-1818G>A) c.894G>A (p.Glu298=) c.866-1818G>A (n.866-1818G>A) | |
| 12 | g.109800731_109800732del | CA2575286530 | TRPV4 | c.740_741del (p.Glu247AlafsTer16) c.769_770del (p.Ser257ArgfsTer?) n.771_772del c.638_639del (p.Glu213AlafsTer16) c.713-1819_713-1818del (n.713-1819_713-1818del) c.893_894del (p.Glu298AlafsTer16) c.866-1819_866-1818del (n.866-1819_866-1818del) | ClinVar gnomAD v4 |
| 12 | g.109800731T>A | CA386655458 | TRPV4 | c.740A>T (p.Glu247Val) c.769A>T (p.Ser257Cys) n.771A>T c.638A>T (p.Glu213Val) c.713-1819A>T (n.713-1819A>T) c.893A>T (p.Glu298Val) c.866-1819A>T (n.866-1819A>T) | |
| 12 | g.109800731T>C | CA386655459 | TRPV4 | c.740A>G (p.Glu247Gly) c.769A>G (p.Ser257Gly) n.771A>G c.638A>G (p.Glu213Gly) c.713-1819A>G (n.713-1819A>G) c.893A>G (p.Glu298Gly) c.866-1819A>G (n.866-1819A>G) | |
| 12 | g.109800731T>G | CA386655460 | TRPV4 | c.740A>C (p.Glu247Ala) c.769A>C (p.Ser257Arg) n.771A>C c.638A>C (p.Glu213Ala) c.713-1819A>C (n.713-1819A>C) c.893A>C (p.Glu298Ala) c.866-1819A>C (n.866-1819A>C) | |
| 12 | g.109800732C>A | CA386655461 | TRPV4 | c.739G>T (p.Glu247Ter) c.768G>T (p.Leu256Phe) n.770G>T c.637G>T (p.Glu213Ter) c.713-1820G>T (n.713-1820G>T) c.892G>T (p.Glu298Ter) c.866-1820G>T (n.866-1820G>T) | |
| 12 | g.109800732C= | CA2062574891 | TRPV4 | c.739G= (p.Glu247=) c.768G= (p.Leu256=) n.770G= c.637G= (p.Glu213=) c.713-1820G= (n.713-1820G=) c.892G= (p.Glu298=) c.866-1820G= (n.866-1820G=) | |
| 12 | g.109800732C>G | CA386655462 | TRPV4 | c.739G>C (p.Glu247Gln) c.768G>C (p.Leu256Phe) n.770G>C c.637G>C (p.Glu213Gln) c.713-1820G>C (n.713-1820G>C) c.892G>C (p.Glu298Gln) c.866-1820G>C (n.866-1820G>C) | |
| 12 | g.109800732C>T | CA6780436 | TRPV4 | c.739G>A (p.Glu247Lys) c.768G>A (p.Leu256=) n.770G>A c.637G>A (p.Glu213Lys) c.713-1820G>A (n.713-1820G>A) c.892G>A (p.Glu298Lys) c.866-1820G>A (n.866-1820G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109800733A= | CA2062574894 | TRPV4 | c.738T= (p.Ile246=) c.767T= (p.Leu256=) n.769T= c.636T= (p.Ile212=) c.713-1821T= (n.713-1821T=) c.891T= (p.Ile297=) c.866-1821T= (n.866-1821T=) | |
| 12 | g.109800733A>C | CA386655463 | TRPV4 | c.738T>G (p.Ile246Met) c.767T>G (p.Leu256Trp) n.769T>G c.636T>G (p.Ile212Met) c.713-1821T>G (n.713-1821T>G) c.891T>G (p.Ile297Met) c.866-1821T>G (n.866-1821T>G) | gnomAD v4 |
| 12 | g.109800733A>G | CA6780437 | TRPV4 | c.738T>C (p.Ile246=) c.767T>C (p.Leu256Ser) n.769T>C c.636T>C (p.Ile212=) c.713-1821T>C (n.713-1821T>C) c.891T>C (p.Ile297=) c.866-1821T>C (n.866-1821T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800733A>T | CA481719220 | TRPV4 | c.738T>A (p.Ile246=) c.767T>A (p.Leu256Ter) n.769T>A c.636T>A (p.Ile212=) c.713-1821T>A (n.713-1821T>A) c.891T>A (p.Ile297=) c.866-1821T>A (n.866-1821T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800734A= | CA2062574903 | TRPV4 | c.737T= (p.Ile246=) c.766T= (p.Leu256=) n.768T= c.635T= (p.Ile212=) c.713-1822T= (n.713-1822T=) c.890T= (p.Ile297=) c.866-1822T= (n.866-1822T=) | |
| 12 | g.109800734A>C | CA386655464 | TRPV4 | c.737T>G (p.Ile246Ser) c.766T>G (p.Leu256Val) n.768T>G c.635T>G (p.Ile212Ser) c.713-1822T>G (n.713-1822T>G) c.890T>G (p.Ile297Ser) c.866-1822T>G (n.866-1822T>G) | |
| 12 | g.109800734A>G | CA386655466 | TRPV4 | c.737T>C (p.Ile246Thr) c.766T>C (p.Leu256=) n.768T>C c.635T>C (p.Ile212Thr) c.713-1822T>C (n.713-1822T>C) c.890T>C (p.Ile297Thr) c.866-1822T>C (n.866-1822T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109800734A>T | CA386655465 | TRPV4 | c.737T>A (p.Ile246Asn) c.766T>A (p.Leu256Met) n.768T>A c.635T>A (p.Ile212Asn) c.713-1822T>A (n.713-1822T>A) c.890T>A (p.Ile297Asn) c.866-1822T>A (n.866-1822T>A) | |
| 12 | g.109800735T>A | CA386655467 | TRPV4 | c.736A>T (p.Ile246Phe) c.765A>T (p.Pro255=) n.767A>T c.634A>T (p.Ile212Phe) c.713-1823A>T (n.713-1823A>T) c.889A>T (p.Ile297Phe) c.866-1823A>T (n.866-1823A>T) | |
| 12 | g.109800735T>C | CA6780438 | TRPV4 | c.736A>G (p.Ile246Val) c.765A>G (p.Pro255=) n.767A>G c.634A>G (p.Ile212Val) c.713-1823A>G (n.713-1823A>G) c.889A>G (p.Ile297Val) c.866-1823A>G (n.866-1823A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800735T>G | CA386655468 | TRPV4 | c.736A>C (p.Ile246Leu) c.765A>C (p.Pro255=) n.767A>C c.634A>C (p.Ile212Leu) c.713-1823A>C (n.713-1823A>C) c.889A>C (p.Ile297Leu) c.866-1823A>C (n.866-1823A>C) | gnomAD v4 |
| 12 | g.109800735T= | CA2062574908 | TRPV4 | c.736A= (p.Ile246=) c.765A= (p.Pro255=) n.767A= c.634A= (p.Ile212=) c.713-1823A= (n.713-1823A=) c.889A= (p.Ile297=) c.866-1823A= (n.866-1823A=) | |
| 12 | g.109800736G>A | CA6780439 | TRPV4 | c.735C>T (p.Ala245=) c.764C>T (p.Pro255Leu) n.766C>T c.633C>T (p.Ala211=) c.713-1824C>T (n.713-1824C>T) c.888C>T (p.Ala296=) c.866-1824C>T (n.866-1824C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109800736G>C | CA481719221 | TRPV4 | c.735C>G (p.Ala245=) c.764C>G (p.Pro255Arg) n.766C>G c.633C>G (p.Ala211=) c.713-1824C>G (n.713-1824C>G) c.888C>G (p.Ala296=) c.866-1824C>G (n.866-1824C>G) | |
| 12 | g.109800736G= | CA2062574911 | TRPV4 | c.735C= (p.Ala245=) c.764C= (p.Pro255=) n.766C= c.633C= (p.Ala211=) c.713-1824C= (n.713-1824C=) c.888C= (p.Ala296=) c.866-1824C= (n.866-1824C=) | |
| 12 | g.109800736G>T | CA481719222 | TRPV4 | c.735C>A (p.Ala245=) c.764C>A (p.Pro255Gln) n.766C>A c.633C>A (p.Ala211=) c.713-1824C>A (n.713-1824C>A) c.888C>A (p.Ala296=) c.866-1824C>A (n.866-1824C>A) | |
| 12 | g.109800737G>A | CA386655469 | TRPV4 | c.734C>T (p.Ala245Val) c.763C>T (p.Pro255Ser) n.765C>T c.632C>T (p.Ala211Val) c.713-1825C>T (n.713-1825C>T) c.887C>T (p.Ala296Val) c.866-1825C>T (n.866-1825C>T) | gnomAD v4 |
| 12 | g.109800737G>C | CA386655470 | TRPV4 | c.734C>G (p.Ala245Gly) c.763C>G (p.Pro255Ala) n.765C>G c.632C>G (p.Ala211Gly) c.713-1825C>G (n.713-1825C>G) c.887C>G (p.Ala296Gly) c.866-1825C>G (n.866-1825C>G) | |
| 12 | g.109800737G>T | CA386655471 | TRPV4 | c.734C>A (p.Ala245Asp) c.763C>A (p.Pro255Thr) n.765C>A c.632C>A (p.Ala211Asp) c.713-1825C>A (n.713-1825C>A) c.887C>A (p.Ala296Asp) c.866-1825C>A (n.866-1825C>A) | |
| 12 | g.109800738C>A | CA6780440 | TRPV4 | c.733G>T (p.Ala245Ser) c.762G>T (p.Ser254=) n.764G>T c.631G>T (p.Ala211Ser) c.713-1826G>T (n.713-1826G>T) c.886G>T (p.Ala296Ser) c.866-1826G>T (n.866-1826G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.109800738C= | CA2062574916 | TRPV4 | c.733G= (p.Ala245=) c.762G= (p.Ser254=) n.764G= c.631G= (p.Ala211=) c.713-1826G= (n.713-1826G=) c.886G= (p.Ala296=) c.866-1826G= (n.866-1826G=) | |
| 12 | g.109800738C>G | CA386655472 | TRPV4 | c.733G>C (p.Ala245Pro) c.762G>C (p.Ser254=) n.764G>C c.631G>C (p.Ala211Pro) c.713-1826G>C (n.713-1826G>C) c.886G>C (p.Ala296Pro) c.866-1826G>C (n.866-1826G>C) | |
| 12 | g.109800738C>T | CA386655473 | TRPV4 | c.733G>A (p.Ala245Thr) c.762G>A (p.Ser254=) n.764G>A c.631G>A (p.Ala211Thr) c.713-1826G>A (n.713-1826G>A) c.886G>A (p.Ala296Thr) c.866-1826G>A (n.866-1826G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109800739del | CA645585869 | TRPV4 | c.732del (p.Ile244MetfsTer?) c.761del (p.Ser254CysfsTer3) n.763del c.630del (p.Ile210MetfsTer?) c.713-1827del (n.713-1827del) c.885del (p.Ile295MetfsTer?) c.866-1827del (n.866-1827del) | COSMIC |
| 12 | g.109800739G>A | CA6780441 | TRPV4 | c.732C>T (p.Ile244=) c.761C>T (p.Ser254Leu) n.763C>T c.630C>T (p.Ile210=) c.713-1827C>T (n.713-1827C>T) c.885C>T (p.Ile295=) c.866-1827C>T (n.866-1827C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800739G>C | CA386655474 | TRPV4 | c.732C>G (p.Ile244Met) c.761C>G (p.Ser254Trp) n.763C>G c.630C>G (p.Ile210Met) c.713-1827C>G (n.713-1827C>G) c.885C>G (p.Ile295Met) c.866-1827C>G (n.866-1827C>G) | |
| 12 | g.109800739G= | CA2062574924 | TRPV4 | c.732C= (p.Ile244=) c.761C= (p.Ser254=) n.763C= c.630C= (p.Ile210=) c.713-1827C= (n.713-1827C=) c.885C= (p.Ile295=) c.866-1827C= (n.866-1827C=) | |
| 12 | g.109800739G>T | CA481719223 | TRPV4 | c.732C>A (p.Ile244=) c.761C>A (p.Ser254Ter) n.763C>A c.630C>A (p.Ile210=) c.713-1827C>A (n.713-1827C>A) c.885C>A (p.Ile295=) c.866-1827C>A (n.866-1827C>A) | |
| 12 | g.109800740A>C | CA386655477 | TRPV4 | c.731T>G (p.Ile244Ser) c.760T>G (p.Ser254Ala) n.762T>G c.629T>G (p.Ile210Ser) c.713-1828T>G (n.713-1828T>G) c.884T>G (p.Ile295Ser) c.866-1828T>G (n.866-1828T>G) | |
| 12 | g.109800740A>G | CA386655475 | TRPV4 | c.731T>C (p.Ile244Thr) c.760T>C (p.Ser254Pro) n.762T>C c.629T>C (p.Ile210Thr) c.713-1828T>C (n.713-1828T>C) c.884T>C (p.Ile295Thr) c.866-1828T>C (n.866-1828T>C) | gnomAD v4 |
| 12 | g.109800740A>T | CA386655476 | TRPV4 | c.731T>A (p.Ile244Asn) c.760T>A (p.Ser254Thr) n.762T>A c.629T>A (p.Ile210Asn) c.713-1828T>A (n.713-1828T>A) c.884T>A (p.Ile295Asn) c.866-1828T>A (n.866-1828T>A) | |
| 12 | g.109800741T>A | CA386655478 | TRPV4 | c.730A>T (p.Ile244Phe) c.759A>T (p.Thr253=) n.761A>T c.628A>T (p.Ile210Phe) c.713-1829A>T (n.713-1829A>T) c.883A>T (p.Ile295Phe) c.866-1829A>T (n.866-1829A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109800741T>C | CA386655479 | TRPV4 | c.730A>G (p.Ile244Val) c.759A>G (p.Thr253=) n.761A>G c.628A>G (p.Ile210Val) c.713-1829A>G (n.713-1829A>G) c.883A>G (p.Ile295Val) c.866-1829A>G (n.866-1829A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109800741T>G | CA386655480 | TRPV4 | c.730A>C (p.Ile244Leu) c.759A>C (p.Thr253=) n.761A>C c.628A>C (p.Ile210Leu) c.713-1829A>C (n.713-1829A>C) c.883A>C (p.Ile295Leu) c.866-1829A>C (n.866-1829A>C) | |
| 12 | g.109800741T= | CA2062574928 | TRPV4 | c.730A= (p.Ile244=) c.759A= (p.Thr253=) n.761A= c.628A= (p.Ile210=) c.713-1829A= (n.713-1829A=) c.883A= (p.Ile295=) c.866-1829A= (n.866-1829A=) | |
| 12 | g.109800742G>A | CA481719224 | TRPV4 | c.729C>T (p.His243=) c.758C>T (p.Thr253Ile) n.760C>T c.627C>T (p.His209=) c.713-1830C>T (n.713-1830C>T) c.882C>T (p.His294=) c.866-1830C>T (n.866-1830C>T) | |
| 12 | g.109800742G>C | CA386655481 | TRPV4 | c.729C>G (p.His243Gln) c.758C>G (p.Thr253Arg) n.760C>G c.627C>G (p.His209Gln) c.713-1830C>G (n.713-1830C>G) c.882C>G (p.His294Gln) c.866-1830C>G (n.866-1830C>G) | |
| 12 | g.109800742G>T | CA386655482 | TRPV4 | c.729C>A (p.His243Gln) c.758C>A (p.Thr253Lys) n.760C>A c.627C>A (p.His209Gln) c.713-1830C>A (n.713-1830C>A) c.882C>A (p.His294Gln) c.866-1830C>A (n.866-1830C>A) | gnomAD v4 |
| 12 | g.109800743T>A | CA386655483 | TRPV4 | c.728A>T (p.His243Leu) c.757A>T (p.Thr253Ser) n.759A>T c.626A>T (p.His209Leu) c.713-1831A>T (n.713-1831A>T) c.881A>T (p.His294Leu) c.866-1831A>T (n.866-1831A>T) | |
| 12 | g.109800743T>C | CA386655484 | TRPV4 | c.728A>G (p.His243Arg) c.757A>G (p.Thr253Ala) n.759A>G c.626A>G (p.His209Arg) c.713-1831A>G (n.713-1831A>G) c.881A>G (p.His294Arg) c.866-1831A>G (n.866-1831A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800743T>G | CA386655485 | TRPV4 | c.728A>C (p.His243Pro) c.757A>C (p.Thr253Pro) n.759A>C c.626A>C (p.His209Pro) c.713-1831A>C (n.713-1831A>C) c.881A>C (p.His294Pro) c.866-1831A>C (n.866-1831A>C) | |
| 12 | g.109800743T= | CA2062574933 | TRPV4 | c.728A= (p.His243=) c.757A= (p.Thr253=) n.759A= c.626A= (p.His209=) c.713-1831A= (n.713-1831A=) c.881A= (p.His294=) c.866-1831A= (n.866-1831A=) | |
| 12 | g.109800744G>A | CA386655486 | TRPV4 | c.727C>T (p.His243Tyr) c.756C>T (p.Cys252=) n.758C>T c.625C>T (p.His209Tyr) c.713-1832C>T (n.713-1832C>T) c.880C>T (p.His294Tyr) c.866-1832C>T (n.866-1832C>T) | |
| 12 | g.109800744G>C | CA386655487 | TRPV4 | c.727C>G (p.His243Asp) c.756C>G (p.Cys252Trp) n.758C>G c.625C>G (p.His209Asp) c.713-1832C>G (n.713-1832C>G) c.880C>G (p.His294Asp) c.866-1832C>G (n.866-1832C>G) | |
| 12 | g.109800744G>T | CA386655488 | TRPV4 | c.727C>A (p.His243Asn) c.756C>A (p.Cys252Ter) n.758C>A c.625C>A (p.His209Asn) c.713-1832C>A (n.713-1832C>A) c.880C>A (p.His294Asn) c.866-1832C>A (n.866-1832C>A) | |
| 12 | g.109800745C>A | CA481719225 | TRPV4 | c.726G>T (p.Leu242=) c.755G>T (p.Cys252Phe) n.757G>T c.624G>T (p.Leu208=) c.713-1833G>T (n.713-1833G>T) c.879G>T (p.Leu293=) c.866-1833G>T (n.866-1833G>T) | |
| 12 | g.109800745C= | CA2062574937 | TRPV4 | c.726G= (p.Leu242=) c.755G= (p.Cys252=) n.757G= c.624G= (p.Leu208=) c.713-1833G= (n.713-1833G=) c.879G= (p.Leu293=) c.866-1833G= (n.866-1833G=) | |
| 12 | g.109800745C>G | CA481719226 | TRPV4 | c.726G>C (p.Leu242=) c.755G>C (p.Cys252Ser) n.757G>C c.624G>C (p.Leu208=) c.713-1833G>C (n.713-1833G>C) c.879G>C (p.Leu293=) c.866-1833G>C (n.866-1833G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109800745C>T | CA481719227 | TRPV4 | c.726G>A (p.Leu242=) c.755G>A (p.Cys252Tyr) n.757G>A c.624G>A (p.Leu208=) c.713-1833G>A (n.713-1833G>A) c.879G>A (p.Leu293=) c.866-1833G>A (n.866-1833G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109800746A>C | CA386655491 | TRPV4 | c.725T>G (p.Leu242Arg) c.754T>G (p.Cys252Gly) n.756T>G c.623T>G (p.Leu208Arg) c.713-1834T>G (n.713-1834T>G) c.878T>G (p.Leu293Arg) c.866-1834T>G (n.866-1834T>G) | |
| 12 | g.109800746A>G | CA386655490 | TRPV4 | c.725T>C (p.Leu242Pro) c.754T>C (p.Cys252Arg) n.756T>C c.623T>C (p.Leu208Pro) c.713-1834T>C (n.713-1834T>C) c.878T>C (p.Leu293Pro) c.866-1834T>C (n.866-1834T>C) | |
| 12 | g.109800746A>T | CA386655489 | TRPV4 | c.725T>A (p.Leu242Gln) c.754T>A (p.Cys252Ser) n.756T>A c.623T>A (p.Leu208Gln) c.713-1834T>A (n.713-1834T>A) c.878T>A (p.Leu293Gln) c.866-1834T>A (n.866-1834T>A) | |
| 12 | g.109800747G>A | CA243469186 | TRPV4 | c.724C>T (p.Leu242=) c.753C>T (p.Pro251=) n.755C>T c.622C>T (p.Leu208=) c.713-1835C>T (n.713-1835C>T) c.877C>T (p.Leu293=) c.866-1835C>T (n.866-1835C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109800747G>C | CA386655492 | TRPV4 | c.724C>G (p.Leu242Val) c.753C>G (p.Pro251=) n.755C>G c.622C>G (p.Leu208Val) c.713-1835C>G (n.713-1835C>G) c.877C>G (p.Leu293Val) c.866-1835C>G (n.866-1835C>G) | |
| 12 | g.109800747G= | CA2062574941 | TRPV4 | c.724C= (p.Leu242=) c.753C= (p.Pro251=) n.755C= c.622C= (p.Leu208=) c.713-1835C= (n.713-1835C=) c.877C= (p.Leu293=) c.866-1835C= (n.866-1835C=) | |
| 12 | g.109800747G>T | CA386655493 | TRPV4 | c.724C>A (p.Leu242Met) c.753C>A (p.Pro251=) n.755C>A c.622C>A (p.Leu208Met) c.713-1835C>A (n.713-1835C>A) c.877C>A (p.Leu293Met) c.866-1835C>A (n.866-1835C>A) | |
| 12 | g.109800748G>A | CA481719228 | TRPV4 | c.723C>T (p.Ala241=) c.752C>T (p.Pro251Leu) n.754C>T c.621C>T (p.Ala207=) c.713-1836C>T (n.713-1836C>T) c.876C>T (p.Ala292=) c.866-1836C>T (n.866-1836C>T) | gnomAD v4 |
| 12 | g.109800748G>C | CA481719230 | TRPV4 | c.723C>G (p.Ala241=) c.752C>G (p.Pro251Arg) n.754C>G c.621C>G (p.Ala207=) c.713-1836C>G (n.713-1836C>G) c.876C>G (p.Ala292=) c.866-1836C>G (n.866-1836C>G) | |
| 12 | g.109800748G= | CA2062574944 | TRPV4 | c.723C= (p.Ala241=) c.752C= (p.Pro251=) n.754C= c.621C= (p.Ala207=) c.713-1836C= (n.713-1836C=) c.876C= (p.Ala292=) c.866-1836C= (n.866-1836C=) | |
| 12 | g.109800748G>T | CA481719229 | TRPV4 | c.723C>A (p.Ala241=) c.752C>A (p.Pro251His) n.754C>A c.621C>A (p.Ala207=) c.713-1836C>A (n.713-1836C>A) c.876C>A (p.Ala292=) c.866-1836C>A (n.866-1836C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109800749G>A | CA386655494 | TRPV4 | c.722C>T (p.Ala241Val) c.751C>T (p.Pro251Ser) n.753C>T c.620C>T (p.Ala207Val) c.713-1837C>T (n.713-1837C>T) c.875C>T (p.Ala292Val) c.866-1837C>T (n.866-1837C>T) | ClinVar dbSNP |
| 12 | g.109800749G>C | CA386655495 | TRPV4 | c.722C>G (p.Ala241Gly) c.751C>G (p.Pro251Ala) n.753C>G c.620C>G (p.Ala207Gly) c.713-1837C>G (n.713-1837C>G) c.875C>G (p.Ala292Gly) c.866-1837C>G (n.866-1837C>G) | |
| 12 | g.109800749G>T | CA386655496 | TRPV4 | c.722C>A (p.Ala241Asp) c.751C>A (p.Pro251Thr) n.753C>A c.620C>A (p.Ala207Asp) c.713-1837C>A (n.713-1837C>A) c.875C>A (p.Ala292Asp) c.866-1837C>A (n.866-1837C>A) | |
| 12 | g.109800750C>A | CA386655497 | TRPV4 | c.721G>T (p.Ala241Ser) c.750G>T (p.Gln250His) n.752G>T c.619G>T (p.Ala207Ser) c.713-1838G>T (n.713-1838G>T) c.874G>T (p.Ala292Ser) c.866-1838G>T (n.866-1838G>T) | |
| 12 | g.109800750C>G | CA386655498 | TRPV4 | c.721G>C (p.Ala241Pro) c.750G>C (p.Gln250His) n.752G>C c.619G>C (p.Ala207Pro) c.713-1838G>C (n.713-1838G>C) c.874G>C (p.Ala292Pro) c.866-1838G>C (n.866-1838G>C) | |
| 12 | g.109800750C>T | CA386655499 | TRPV4 | c.721G>A (p.Ala241Thr) c.750G>A (p.Gln250=) n.752G>A c.619G>A (p.Ala207Thr) c.713-1838G>A (n.713-1838G>A) c.874G>A (p.Ala292Thr) c.866-1838G>A (n.866-1838G>A) | gnomAD v4 |
| 12 | g.109800751T>A | CA481719232 | TRPV4 | c.720A>T (p.Thr240=) c.749A>T (p.Gln250Leu) n.751A>T c.618A>T (p.Thr206=) c.713-1839A>T (n.713-1839A>T) c.873A>T (p.Thr291=) c.866-1839A>T (n.866-1839A>T) | |
| 12 | g.109800751T>C | CA481719233 | TRPV4 | c.720A>G (p.Thr240=) c.749A>G (p.Gln250Arg) n.751A>G c.618A>G (p.Thr206=) c.713-1839A>G (n.713-1839A>G) c.873A>G (p.Thr291=) c.866-1839A>G (n.866-1839A>G) | gnomAD v4 |
| 12 | g.109800751T>G | CA481719234 | TRPV4 | c.720A>C (p.Thr240=) c.749A>C (p.Gln250Pro) n.751A>C c.618A>C (p.Thr206=) c.713-1839A>C (n.713-1839A>C) c.873A>C (p.Thr291=) c.866-1839A>C (n.866-1839A>C) | |
| 12 | g.109800752G>A | CA6780442 | TRPV4 | c.719C>T (p.Thr240Ile) c.748C>T (p.Gln250Ter) n.750C>T c.617C>T (p.Thr206Ile) c.713-1840C>T (n.713-1840C>T) c.872C>T (p.Thr291Ile) c.866-1840C>T (n.866-1840C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109800752G>C | CA386655500 | TRPV4 | c.719C>G (p.Thr240Arg) c.748C>G (p.Gln250Glu) n.750C>G c.617C>G (p.Thr206Arg) c.713-1840C>G (n.713-1840C>G) c.872C>G (p.Thr291Arg) c.866-1840C>G (n.866-1840C>G) | gnomAD v4 |
| 12 | g.109800752G= | CA2062574947 | TRPV4 | c.719C= (p.Thr240=) c.748C= (p.Gln250=) n.750C= c.617C= (p.Thr206=) c.713-1840C= (n.713-1840C=) c.872C= (p.Thr291=) c.866-1840C= (n.866-1840C=) | |
| 12 | g.109800752G>T | CA386655501 | TRPV4 | c.719C>A (p.Thr240Lys) c.748C>A (p.Gln250Lys) n.750C>A c.617C>A (p.Thr206Lys) c.713-1840C>A (n.713-1840C>A) c.872C>A (p.Thr291Lys) c.866-1840C>A (n.866-1840C>A) | |
| 12 | g.109800753T>A | CA6780443 | TRPV4 | c.718A>T (p.Thr240Ser) c.747A>T (p.Arg249Ser) n.749A>T c.616A>T (p.Thr206Ser) c.713-1841A>T (n.713-1841A>T) c.871A>T (p.Thr291Ser) c.866-1841A>T (n.866-1841A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109800753T>C | CA386655502 | TRPV4 | c.718A>G (p.Thr240Ala) c.747A>G (p.Arg249=) n.749A>G c.616A>G (p.Thr206Ala) c.713-1841A>G (n.713-1841A>G) c.871A>G (p.Thr291Ala) c.866-1841A>G (n.866-1841A>G) | |
| 12 | g.109800753T>G | CA386655503 | TRPV4 | c.718A>C (p.Thr240Pro) c.747A>C (p.Arg249Ser) n.749A>C c.616A>C (p.Thr206Pro) c.713-1841A>C (n.713-1841A>C) c.871A>C (p.Thr291Pro) c.866-1841A>C (n.866-1841A>C) | |
| 12 | g.109800753T= | CA2062574952 | TRPV4 | c.718A= (p.Thr240=) c.747A= (p.Arg249=) n.749A= c.616A= (p.Thr206=) c.713-1841A= (n.713-1841A=) c.871A= (p.Thr291=) c.866-1841A= (n.866-1841A=) | |
| 12 | g.109800754C>A | CA386655504 | TRPV4 | c.717G>T (p.Gln239His) c.746G>T (p.Arg249Ile) n.748G>T c.615G>T (p.Gln205His) c.713-1842G>T (n.713-1842G>T) c.870G>T (p.Gln290His) c.866-1842G>T (n.866-1842G>T) | |
| 12 | g.109800754C= | CA2062574955 | TRPV4 | c.717G= (p.Gln239=) c.746G= (p.Arg249=) n.748G= c.615G= (p.Gln205=) c.713-1842G= (n.713-1842G=) c.870G= (p.Gln290=) c.866-1842G= (n.866-1842G=) | |
| 12 | g.109800754C>G | CA347747 | TRPV4 | c.717G>C (p.Gln239His) c.746G>C (p.Arg249Thr) n.748G>C c.615G>C (p.Gln205His) c.713-1842G>C (n.713-1842G>C) c.870G>C (p.Gln290His) c.866-1842G>C (n.866-1842G>C) | ClinVar dbSNP |
| 12 | g.109800754C>T | CA481719236 | TRPV4 | c.717G>A (p.Gln239=) c.746G>A (p.Arg249Lys) n.748G>A c.615G>A (p.Gln205=) c.713-1842G>A (n.713-1842G>A) c.870G>A (p.Gln290=) c.866-1842G>A (n.866-1842G>A) | |
| 12 | g.109800755T>A | CA386655505 | TRPV4 | c.716A>T (p.Gln239Leu) c.745A>T (p.Arg249Ter) n.747A>T c.614A>T (p.Gln205Leu) c.713-1843A>T (n.713-1843A>T) c.869A>T (p.Gln290Leu) c.866-1843A>T (n.866-1843A>T) | |
| 12 | g.109800755T>C | CA386655506 | TRPV4 | c.716A>G (p.Gln239Arg) c.745A>G (p.Arg249Gly) n.747A>G c.614A>G (p.Gln205Arg) c.713-1843A>G (n.713-1843A>G) c.869A>G (p.Gln290Arg) c.866-1843A>G (n.866-1843A>G) | |
| 12 | g.109800755T>G | CA386655507 | TRPV4 | c.716A>C (p.Gln239Pro) c.745A>C (p.Arg249=) n.747A>C c.614A>C (p.Gln205Pro) c.713-1843A>C (n.713-1843A>C) c.869A>C (p.Gln290Pro) c.866-1843A>C (n.866-1843A>C) | dbSNP gnomAD v4 |
| 12 | g.109800755T= | CA2062574962 | TRPV4 | c.716A= (p.Gln239=) c.745A= (p.Arg249=) n.747A= c.614A= (p.Gln205=) c.713-1843A= (n.713-1843A=) c.869A= (p.Gln290=) c.866-1843A= (n.866-1843A=) | |
| 12 | g.109800756G>A | CA386655508 | TRPV4 | c.715C>T (p.Gln239Ter) c.744C>T (p.Val248=) n.746C>T c.613C>T (p.Gln205Ter) c.713-1844C>T (n.713-1844C>T) c.868C>T (p.Gln290Ter) c.866-1844C>T (n.866-1844C>T) | |
| 12 | g.109800756G>C | CA386655509 | TRPV4 | c.715C>G (p.Gln239Glu) c.744C>G (p.Val248=) n.746C>G c.613C>G (p.Gln205Glu) c.713-1844C>G (n.713-1844C>G) c.868C>G (p.Gln290Glu) c.866-1844C>G (n.866-1844C>G) | |
| 12 | g.109800756G>T | CA386655510 | TRPV4 | c.715C>A (p.Gln239Lys) c.744C>A (p.Val248=) n.746C>A c.613C>A (p.Gln205Lys) c.713-1844C>A (n.713-1844C>A) c.868C>A (p.Gln290Lys) c.866-1844C>A (n.866-1844C>A) | |
| 12 | g.109800757A>C | CA481719237 | TRPV4 | c.714T>G (p.Gly238=) c.743T>G (p.Val248Gly) n.745T>G c.612T>G (p.Gly204=) c.713-1845T>G (n.713-1845T>G) c.867T>G (p.Gly289=) c.866-1845T>G (n.866-1845T>G) | |
| 12 | g.109800757A>G | CA481719238 | TRPV4 | c.714T>C (p.Gly238=) c.743T>C (p.Val248Ala) n.745T>C c.612T>C (p.Gly204=) c.713-1845T>C (n.713-1845T>C) c.867T>C (p.Gly289=) c.866-1845T>C (n.866-1845T>C) | |
| 12 | g.109800757A>T | CA481719239 | TRPV4 | c.714T>A (p.Gly238=) c.743T>A (p.Val248Asp) n.745T>A c.612T>A (p.Gly204=) c.713-1845T>A (n.713-1845T>A) c.867T>A (p.Gly289=) c.866-1845T>A (n.866-1845T>A) | |
| 12 | g.109800758C>A | CA386655511 | TRPV4 | c.713G>T (p.Gly238Val) c.742G>T (p.Val248Phe) n.744G>T c.611G>T (p.Gly204Val) c.713-1846G>T (n.713-1846G>T) c.866G>T (p.Gly289Val) c.866-1846G>T (n.866-1846G>T) | |
| 12 | g.109800758C>G | CA386655513 | TRPV4 | c.713G>C (p.Gly238Ala) c.742G>C (p.Val248Leu) n.744G>C c.611G>C (p.Gly204Ala) c.713-1846G>C (n.713-1846G>C) c.866G>C (p.Gly289Ala) c.866-1846G>C (n.866-1846G>C) | |
| 12 | g.109800758C>T | CA386655515 | TRPV4 | c.713G>A (p.Gly238Asp) c.742G>A (p.Val248Ile) n.744G>A c.611G>A (p.Gly204Asp) c.713-1846G>A (n.713-1846G>A) c.866G>A (p.Gly289Asp) c.866-1846G>A (n.866-1846G>A) | gnomAD v4 |
| 12 | g.109800759C>A | CA386655518 | TRPV4 | c.713-1G>T (n.713-1G>T) c.741G>T (p.Gln247His) n.744-1G>T c.611-1G>T (n.611-1G>T) c.713-1847G>T (n.713-1847G>T) c.866-1G>T (n.866-1G>T) c.866-1847G>T (n.866-1847G>T) | |
| 12 | g.109800759C= | CA2062574966 | TRPV4 | c.713-1G= (n.713-1G=) c.741G= (p.Gln247=) n.744-1G= c.611-1G= (n.611-1G=) c.713-1847G= (n.713-1847G=) c.866-1G= (n.866-1G=) c.866-1847G= (n.866-1847G=) | |
| 12 | g.109800759C>G | CA386655521 | TRPV4 | c.713-1G>C (n.713-1G>C) c.741G>C (p.Gln247His) n.744-1G>C c.611-1G>C (n.611-1G>C) c.713-1847G>C (n.713-1847G>C) c.866-1G>C (n.866-1G>C) c.866-1847G>C (n.866-1847G>C) | |
| 12 | g.109800759C>T | CA386655523 | TRPV4 | c.713-1G>A (n.713-1G>A) c.741G>A (p.Gln247=) n.744-1G>A c.611-1G>A (n.611-1G>A) c.713-1847G>A (n.713-1847G>A) c.866-1G>A (n.866-1G>A) c.866-1847G>A (n.866-1847G>A) | |
| 12 | g.109800760T>A | CA386655531 | TRPV4 | c.713-2A>T (n.713-2A>T) c.740A>T (p.Gln247Leu) n.744-2A>T c.611-2A>T (n.611-2A>T) c.713-1848A>T (n.713-1848A>T) c.866-2A>T (n.866-2A>T) c.866-1848A>T (n.866-1848A>T) | |
| 12 | g.109800760T>C | CA386655534 | TRPV4 | c.713-2A>G (n.713-2A>G) c.740A>G (p.Gln247Arg) n.744-2A>G c.611-2A>G (n.611-2A>G) c.713-1848A>G (n.713-1848A>G) c.866-2A>G (n.866-2A>G) c.866-1848A>G (n.866-1848A>G) | |
| 12 | g.109800760T>G | CA386655528 | TRPV4 | c.713-2A>C (n.713-2A>C) c.740A>C (p.Gln247Pro) n.744-2A>C c.611-2A>C (n.611-2A>C) c.713-1848A>C (n.713-1848A>C) c.866-2A>C (n.866-2A>C) c.866-1848A>C (n.866-1848A>C) | |
| 12 | g.109800760dup | CA6780444 | TRPV4 | c.713-2dup (n.713-2dup) c.740dup (p.Val248GlyfsTer?) n.744-2dup c.611-2dup (n.611-2dup) c.713-1848dup (n.713-1848dup) c.866-2dup (n.866-2dup) c.866-1848dup (n.866-1848dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109800761G>A | CA2620823960 | TRPV4 | c.713-3C>T (n.713-3C>T) c.739C>T (p.Gln247Ter) n.744-3C>T c.611-3C>T (n.611-3C>T) c.713-1849C>T (n.713-1849C>T) c.866-3C>T (n.866-3C>T) c.866-1849C>T (n.866-1849C>T) | gnomAD v4 |
| 12 | g.109800761G>C | CA2620823961 | TRPV4 | c.713-3C>G (n.713-3C>G) c.739C>G (p.Gln247Glu) n.744-3C>G c.611-3C>G (n.611-3C>G) c.713-1849C>G (n.713-1849C>G) c.866-3C>G (n.866-3C>G) c.866-1849C>G (n.866-1849C>G) | gnomAD v4 |
| 12 | g.109800765del | CA2620823959 | TRPV4 | c.713-3del (n.713-3del) c.739del (p.Gln247ArgfsTer10) n.744-3del c.611-3del (n.611-3del) c.713-1849del (n.713-1849del) c.866-3del (n.866-3del) c.866-1849del (n.866-1849del) | gnomAD v4 |
| 12 | g.109800762_109800765del | CA2531776887 | TRPV4 | c.713-6_713-3del (n.713-6_713-3del) c.736_739del (p.Pro246ArgfsTer10) n.744-6_744-3del c.611-6_611-3del (n.611-6_611-3del) c.713-1852_713-1849del (n.713-1852_713-1849del) c.866-6_866-3del (n.866-6_866-3del) c.866-1852_866-1849del (n.866-1852_866-1849del) |