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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.109803013G>A | CA6780474 | TRPV4 | c.690C>T (p.Pro230=) n.721C>T c.588C>T (p.Pro196=) c.843C>T (p.Pro281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803013G>C | CA481719613 | TRPV4 | c.690C>G (p.Pro230=) n.721C>G c.588C>G (p.Pro196=) c.843C>G (p.Pro281=) | |
| 12 | g.109803013G= | CA2062577563 | TRPV4 | c.690C= (p.Pro230=) n.721C= c.588C= (p.Pro196=) c.843C= (p.Pro281=) | |
| 12 | g.109803013G>T | CA481719615 | TRPV4 | c.690C>A (p.Pro230=) n.721C>A c.588C>A (p.Pro196=) c.843C>A (p.Pro281=) | |
| 12 | g.109803014G>A | CA386656010 | TRPV4 | c.689C>T (p.Pro230Leu) n.720C>T c.587C>T (p.Pro196Leu) c.842C>T (p.Pro281Leu) | ClinVar dbSNP |
| 12 | g.109803014G>C | CA386656011 | TRPV4 | c.689C>G (p.Pro230Arg) n.720C>G c.587C>G (p.Pro196Arg) c.842C>G (p.Pro281Arg) | |
| 12 | g.109803014G= | CA2062577566 | TRPV4 | c.689C= (p.Pro230=) n.720C= c.587C= (p.Pro196=) c.842C= (p.Pro281=) | |
| 12 | g.109803014G>T | CA386656012 | TRPV4 | c.689C>A (p.Pro230His) n.720C>A c.587C>A (p.Pro196His) c.842C>A (p.Pro281His) | |
| 12 | g.109803015G>A | CA386656013 | TRPV4 | c.688C>T (p.Pro230Ser) n.719C>T c.586C>T (p.Pro196Ser) c.841C>T (p.Pro281Ser) | ClinVar |
| 12 | g.109803015G>C | CA386656014 | TRPV4 | c.688C>G (p.Pro230Ala) n.719C>G c.586C>G (p.Pro196Ala) c.841C>G (p.Pro281Ala) | |
| 12 | g.109803015G>T | CA386656015 | TRPV4 | c.688C>A (p.Pro230Thr) n.719C>A c.586C>A (p.Pro196Thr) c.841C>A (p.Pro281Thr) | |
| 12 | g.109803016C>A | CA481719624 | TRPV4 | c.687G>T (p.Ser229=) n.718G>T c.585G>T (p.Ser195=) c.840G>T (p.Ser280=) | dbSNP |
| 12 | g.109803016C= | CA2062577569 | TRPV4 | c.687G= (p.Ser229=) n.718G= c.585G= (p.Ser195=) c.840G= (p.Ser280=) | |
| 12 | g.109803016C>G | CA481719622 | TRPV4 | c.687G>C (p.Ser229=) n.718G>C c.585G>C (p.Ser195=) c.840G>C (p.Ser280=) | ClinVar dbSNP |
| 12 | g.109803016C>T | CA6780475 | TRPV4 | c.687G>A (p.Ser229=) n.718G>A c.585G>A (p.Ser195=) c.840G>A (p.Ser280=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109803017G>A | CA243471043 | TRPV4 | c.686C>T (p.Ser229Leu) n.717C>T c.584C>T (p.Ser195Leu) c.839C>T (p.Ser280Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803017G>C | CA386656016 | TRPV4 | c.686C>G (p.Ser229Trp) n.717C>G c.584C>G (p.Ser195Trp) c.839C>G (p.Ser280Trp) | |
| 12 | g.109803017G= | CA2062577575 | TRPV4 | c.686C= (p.Ser229=) n.717C= c.584C= (p.Ser195=) c.839C= (p.Ser280=) | |
| 12 | g.109803017G>T | CA386656017 | TRPV4 | c.686C>A (p.Ser229Ter) n.717C>A c.584C>A (p.Ser195Ter) c.839C>A (p.Ser280Ter) | |
| 12 | g.109803018A= | CA2062577580 | TRPV4 | c.685T= (p.Ser229=) n.716T= c.583T= (p.Ser195=) c.838T= (p.Ser280=) | |
| 12 | g.109803018A>C | CA386656019 | TRPV4 | c.685T>G (p.Ser229Ala) n.716T>G c.583T>G (p.Ser195Ala) c.838T>G (p.Ser280Ala) | |
| 12 | g.109803018A>G | CA243471045 | TRPV4 | c.685T>C (p.Ser229Pro) n.716T>C c.583T>C (p.Ser195Pro) c.838T>C (p.Ser280Pro) | dbSNP |
| 12 | g.109803018A>T | CA386656018 | TRPV4 | c.685T>A (p.Ser229Thr) n.716T>A c.583T>A (p.Ser195Thr) c.838T>A (p.Ser280Thr) | |
| 12 | g.109803019G>A | CA481719631 | TRPV4 | c.684C>T (p.Asn228=) n.715C>T c.582C>T (p.Asn194=) c.837C>T (p.Asn279=) | |
| 12 | g.109803019G>C | CA386656020 | TRPV4 | c.684C>G (p.Asn228Lys) n.715C>G c.582C>G (p.Asn194Lys) c.837C>G (p.Asn279Lys) | |
| 12 | g.109803019G>T | CA386656021 | TRPV4 | c.684C>A (p.Asn228Lys) n.715C>A c.582C>A (p.Asn194Lys) c.837C>A (p.Asn279Lys) | |
| 12 | g.109803020T>A | CA386656022 | TRPV4 | c.683A>T (p.Asn228Ile) n.714A>T c.581A>T (p.Asn194Ile) c.836A>T (p.Asn279Ile) | |
| 12 | g.109803020T>C | CA386656023 | TRPV4 | c.683A>G (p.Asn228Ser) n.714A>G c.581A>G (p.Asn194Ser) c.836A>G (p.Asn279Ser) | |
| 12 | g.109803020T>G | CA386656024 | TRPV4 | c.683A>C (p.Asn228Thr) n.714A>C c.581A>C (p.Asn194Thr) c.836A>C (p.Asn279Thr) | dbSNP |
| 12 | g.109803020T= | CA2062577583 | TRPV4 | c.683A= (p.Asn228=) n.714A= c.581A= (p.Asn194=) c.836A= (p.Asn279=) | |
| 12 | g.109803021T>A | CA386656025 | TRPV4 | c.682A>T (p.Asn228Tyr) n.713A>T c.580A>T (p.Asn194Tyr) c.835A>T (p.Asn279Tyr) | |
| 12 | g.109803021T>C | CA386656026 | TRPV4 | c.682A>G (p.Asn228Asp) n.713A>G c.580A>G (p.Asn194Asp) c.835A>G (p.Asn279Asp) | |
| 12 | g.109803021T>G | CA386656027 | TRPV4 | c.682A>C (p.Asn228His) n.713A>C c.580A>C (p.Asn194His) c.835A>C (p.Asn279His) | |
| 12 | g.109803022A>C | CA386656028 | TRPV4 | c.681T>G (p.Ile227Met) n.712T>G c.579T>G (p.Ile193Met) c.834T>G (p.Ile278Met) | |
| 12 | g.109803022A>G | CA481719641 | TRPV4 | c.681T>C (p.Ile227=) n.712T>C c.579T>C (p.Ile193=) c.834T>C (p.Ile278=) | |
| 12 | g.109803022A>T | CA481719639 | TRPV4 | c.681T>A (p.Ile227=) n.712T>A c.579T>A (p.Ile193=) c.834T>A (p.Ile278=) | |
| 12 | g.109803023A>C | CA386656029 | TRPV4 | c.680T>G (p.Ile227Ser) n.711T>G c.578T>G (p.Ile193Ser) c.833T>G (p.Ile278Ser) | |
| 12 | g.109803023A>G | CA386656030 | TRPV4 | c.680T>C (p.Ile227Thr) n.711T>C c.578T>C (p.Ile193Thr) c.833T>C (p.Ile278Thr) | |
| 12 | g.109803023A>T | CA386656031 | TRPV4 | c.680T>A (p.Ile227Asn) n.711T>A c.578T>A (p.Ile193Asn) c.833T>A (p.Ile278Asn) | |
| 12 | g.109803024T>A | CA386656033 | TRPV4 | c.679A>T (p.Ile227Phe) n.710A>T c.577A>T (p.Ile193Phe) c.832A>T (p.Ile278Phe) | |
| 12 | g.109803024T>C | CA386656034 | TRPV4 | c.679A>G (p.Ile227Val) n.710A>G c.577A>G (p.Ile193Val) c.832A>G (p.Ile278Val) | gnomAD v4 |
| 12 | g.109803024T>G | CA386656032 | TRPV4 | c.679A>C (p.Ile227Leu) n.710A>C c.577A>C (p.Ile193Leu) c.832A>C (p.Ile278Leu) | |
| 12 | g.109803025G>A | CA481719648 | TRPV4 | c.678C>T (p.Phe226=) n.709C>T c.576C>T (p.Phe192=) c.831C>T (p.Phe277=) | COSMIC |
| 12 | g.109803025G>C | CA386656035 | TRPV4 | c.678C>G (p.Phe226Leu) n.709C>G c.576C>G (p.Phe192Leu) c.831C>G (p.Phe277Leu) | |
| 12 | g.109803025G>T | CA386656036 | TRPV4 | c.678C>A (p.Phe226Leu) n.709C>A c.576C>A (p.Phe192Leu) c.831C>A (p.Phe277Leu) | |
| 12 | g.109803026A>C | CA386656037 | TRPV4 | c.677T>G (p.Phe226Cys) n.708T>G c.575T>G (p.Phe192Cys) c.830T>G (p.Phe277Cys) | |
| 12 | g.109803026A>G | CA386656038 | TRPV4 | c.677T>C (p.Phe226Ser) n.708T>C c.575T>C (p.Phe192Ser) c.830T>C (p.Phe277Ser) | |
| 12 | g.109803026A>T | CA386656039 | TRPV4 | c.677T>A (p.Phe226Tyr) n.708T>A c.575T>A (p.Phe192Tyr) c.830T>A (p.Phe277Tyr) | |
| 12 | g.109803027A>C | CA386656042 | TRPV4 | c.676T>G (p.Phe226Val) n.707T>G c.574T>G (p.Phe192Val) c.829T>G (p.Phe277Val) | |
| 12 | g.109803027A>G | CA386656040 | TRPV4 | c.676T>C (p.Phe226Leu) n.707T>C c.574T>C (p.Phe192Leu) c.829T>C (p.Phe277Leu) | COSMIC |
| 12 | g.109803027A>T | CA386656041 | TRPV4 | c.676T>A (p.Phe226Ile) n.707T>A c.574T>A (p.Phe192Ile) c.829T>A (p.Phe277Ile) | |
| 12 | g.109803028C>A | CA386656043 | TRPV4 | c.675G>T (p.Glu225Asp) n.706G>T c.573G>T (p.Glu191Asp) c.828G>T (p.Glu276Asp) | |
| 12 | g.109803028C= | CA2062577588 | TRPV4 | c.675G= (p.Glu225=) n.706G= c.573G= (p.Glu191=) c.828G= (p.Glu276=) | |
| 12 | g.109803028C>G | CA386656044 | TRPV4 | c.675G>C (p.Glu225Asp) n.706G>C c.573G>C (p.Glu191Asp) c.828G>C (p.Glu276Asp) | |
| 12 | g.109803028C>T | CA481719657 | TRPV4 | c.675G>A (p.Glu225=) n.706G>A c.573G>A (p.Glu191=) c.828G>A (p.Glu276=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.109803029T>A | CA386656045 | TRPV4 | c.674A>T (p.Glu225Val) n.705A>T c.572A>T (p.Glu191Val) c.827A>T (p.Glu276Val) | |
| 12 | g.109803029T>C | CA386656046 | TRPV4 | c.674A>G (p.Glu225Gly) n.705A>G c.572A>G (p.Glu191Gly) c.827A>G (p.Glu276Gly) | |
| 12 | g.109803029T>G | CA386656047 | TRPV4 | c.674A>C (p.Glu225Ala) n.705A>C c.572A>C (p.Glu191Ala) c.827A>C (p.Glu276Ala) | |
| 12 | g.109803029_109803030delinsTC | CA2062577590 | TRPV4 | c.673_674delinsGA (p.Glu225=) n.704_705delinsGA c.571_572delinsGA (p.Glu191=) c.826_827delinsGA (p.Glu276=) | |
| 12 | g.109803030C>A | CA386656050 | TRPV4 | c.673G>T (p.Glu225Ter) n.704G>T c.571G>T (p.Glu191Ter) c.826G>T (p.Glu276Ter) | |
| 12 | g.109803030C>G | CA386656049 | TRPV4 | c.673G>C (p.Glu225Gln) n.704G>C c.571G>C (p.Glu191Gln) c.826G>C (p.Glu276Gln) | |
| 12 | g.109803030C>T | CA386656048 | TRPV4 | c.673G>A (p.Glu225Lys) n.704G>A c.571G>A (p.Glu191Lys) c.826G>A (p.Glu276Lys) | |
| 12 | g.109803032del | CA607602075 | TRPV4 | c.673del (p.Glu225SerfsTer?) c.673del (p.Glu225SerfsTer17) n.704del c.571del (p.Glu191SerfsTer?) c.826del (p.Glu276SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803031C>A | CA386656051 | TRPV4 | c.672G>T (p.Arg224Ser) n.703G>T c.570G>T (p.Arg190Ser) c.825G>T (p.Arg275Ser) | gnomAD v4 |
| 12 | g.109803031C>G | CA386656052 | TRPV4 | c.672G>C (p.Arg224Ser) n.703G>C c.570G>C (p.Arg190Ser) c.825G>C (p.Arg275Ser) | |
| 12 | g.109803031C>T | CA481719665 | TRPV4 | c.672G>A (p.Arg224=) n.703G>A c.570G>A (p.Arg190=) c.825G>A (p.Arg275=) | ClinVar gnomAD v4 |
| 12 | g.109803032C>A | CA386656053 | TRPV4 | c.671G>T (p.Arg224Met) n.702G>T c.569G>T (p.Arg190Met) c.824G>T (p.Arg275Met) | |
| 12 | g.109803032C= | CA2062577598 | TRPV4 | c.671G= (p.Arg224=) n.702G= c.569G= (p.Arg190=) c.824G= (p.Arg275=) | |
| 12 | g.109803032C>G | CA386656054 | TRPV4 | c.671G>C (p.Arg224Thr) n.702G>C c.569G>C (p.Arg190Thr) c.824G>C (p.Arg275Thr) | |
| 12 | g.109803032C>T | CA243471050 | TRPV4 | c.671G>A (p.Arg224Lys) n.702G>A c.569G>A (p.Arg190Lys) c.824G>A (p.Arg275Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803032_109803033delinsCT | CA2062577601 | TRPV4 | c.670_671delinsAG (p.Arg224=) n.701_702delinsAG c.568_569delinsAG (p.Arg190=) c.823_824delinsAG (p.Arg275=) | |
| 12 | g.109803032_109803033delinsTG | CA658797950 | TRPV4 | c.670_671delinsCA (p.Arg224Gln) n.701_702delinsCA c.568_569delinsCA (p.Arg190Gln) c.823_824delinsCA (p.Arg275Gln) | ClinVar dbSNP |
| 12 | g.109803033T>A | CA6780477 | TRPV4 | c.670A>T (p.Arg224Trp) n.701A>T c.568A>T (p.Arg190Trp) c.823A>T (p.Arg275Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109803033T>C | CA386656055 | TRPV4 | c.670A>G (p.Arg224Gly) n.701A>G c.568A>G (p.Arg190Gly) c.823A>G (p.Arg275Gly) | |
| 12 | g.109803033T>G | CA6780476 | TRPV4 | c.670A>C (p.Arg224=) n.701A>C c.568A>C (p.Arg190=) c.823A>C (p.Arg275=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803033T= | CA1630855775 | TRPV4 | c.670A= (p.Arg224=) n.701A= c.568A= (p.Arg190=) c.823A= (p.Arg275=) | |
| 12 | g.109803034C>A | CA386656056 | TRPV4 | c.669G>T (p.Met223Ile) n.700G>T c.567G>T (p.Met189Ile) c.822G>T (p.Met274Ile) | |
| 12 | g.109803034C= | CA2062577608 | TRPV4 | c.669G= (p.Met223=) n.700G= c.567G= (p.Met189=) c.822G= (p.Met274=) | |
| 12 | g.109803034C>G | CA386656057 | TRPV4 | c.669G>C (p.Met223Ile) n.700G>C c.567G>C (p.Met189Ile) c.822G>C (p.Met274Ile) | |
| 12 | g.109803034C>T | CA6780478 | TRPV4 | c.669G>A (p.Met223Ile) n.700G>A c.567G>A (p.Met189Ile) c.822G>A (p.Met274Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109803035A>C | CA386656058 | TRPV4 | c.668T>G (p.Met223Arg) n.699T>G c.566T>G (p.Met189Arg) c.821T>G (p.Met274Arg) | |
| 12 | g.109803035A>G | CA386656059 | TRPV4 | c.668T>C (p.Met223Thr) n.699T>C c.566T>C (p.Met189Thr) c.821T>C (p.Met274Thr) | |
| 12 | g.109803035A>T | CA386656060 | TRPV4 | c.668T>A (p.Met223Lys) n.699T>A c.566T>A (p.Met189Lys) c.821T>A (p.Met274Lys) | |
| 12 | g.109803036T>A | CA386656061 | TRPV4 | c.667A>T (p.Met223Leu) n.698A>T c.565A>T (p.Met189Leu) c.820A>T (p.Met274Leu) | gnomAD v4 |
| 12 | g.109803036T>C | CA243471070 | TRPV4 | c.667A>G (p.Met223Val) n.698A>G c.565A>G (p.Met189Val) c.820A>G (p.Met274Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109803036T>G | CA386656062 | TRPV4 | c.667A>C (p.Met223Leu) n.698A>C c.565A>C (p.Met189Leu) c.820A>C (p.Met274Leu) | |
| 12 | g.109803036T= | CA2062577613 | TRPV4 | c.667A= (p.Met223=) n.698A= c.565A= (p.Met189=) c.820A= (p.Met274=) | |
| 12 | g.109803037G>A | CA481719677 | TRPV4 | c.666C>T (p.Asn222=) n.697C>T c.564C>T (p.Asn188=) c.819C>T (p.Asn273=) | gnomAD v4 |
| 12 | g.109803037G>C | CA386656063 | TRPV4 | c.666C>G (p.Asn222Lys) n.697C>G c.564C>G (p.Asn188Lys) c.819C>G (p.Asn273Lys) | |
| 12 | g.109803037G>T | CA386656064 | TRPV4 | c.666C>A (p.Asn222Lys) n.697C>A c.564C>A (p.Asn188Lys) c.819C>A (p.Asn273Lys) | |
| 12 | g.109803038T>A | CA386656065 | TRPV4 | c.665A>T (p.Asn222Ile) n.696A>T c.563A>T (p.Asn188Ile) c.818A>T (p.Asn273Ile) | |
| 12 | g.109803038T>C | CA386656066 | TRPV4 | c.665A>G (p.Asn222Ser) n.696A>G c.563A>G (p.Asn188Ser) c.818A>G (p.Asn273Ser) | |
| 12 | g.109803038T>G | CA386656067 | TRPV4 | c.665A>C (p.Asn222Thr) n.696A>C c.563A>C (p.Asn188Thr) c.818A>C (p.Asn273Thr) | |
| 12 | g.109803039T>A | CA386656068 | TRPV4 | c.664A>T (p.Asn222Tyr) n.695A>T c.562A>T (p.Asn188Tyr) c.817A>T (p.Asn273Tyr) | |
| 12 | g.109803039T>C | CA386656069 | TRPV4 | c.664A>G (p.Asn222Asp) n.695A>G c.562A>G (p.Asn188Asp) c.817A>G (p.Asn273Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109803039T>G | CA386656070 | TRPV4 | c.664A>C (p.Asn222His) n.695A>C c.562A>C (p.Asn188His) c.817A>C (p.Asn273His) | |
| 12 | g.109803039T= | CA2062577617 | TRPV4 | c.664A= (p.Asn222=) n.695A= c.562A= (p.Asn188=) c.817A= (p.Asn273=) | |
| 12 | g.109803040G>A | CA481719683 | TRPV4 | c.663C>T (p.Gly221=) n.694C>T c.561C>T (p.Gly187=) c.816C>T (p.Gly272=) | |
| 12 | g.109803040G>C | CA481719685 | TRPV4 | c.663C>G (p.Gly221=) n.694C>G c.561C>G (p.Gly187=) c.816C>G (p.Gly272=) | |
| 12 | g.109803040G>T | CA481719687 | TRPV4 | c.663C>A (p.Gly221=) n.694C>A c.561C>A (p.Gly187=) c.816C>A (p.Gly272=) | |
| 12 | g.109803041C>A | CA386656071 | TRPV4 | c.662G>T (p.Gly221Val) n.693G>T c.560G>T (p.Gly187Val) c.815G>T (p.Gly272Val) | |
| 12 | g.109803041C>G | CA386656072 | TRPV4 | c.662G>C (p.Gly221Ala) n.693G>C c.560G>C (p.Gly187Ala) c.815G>C (p.Gly272Ala) | |
| 12 | g.109803041C>T | CA386656073 | TRPV4 | c.662G>A (p.Gly221Asp) n.693G>A c.560G>A (p.Gly187Asp) c.815G>A (p.Gly272Asp) | ClinVar |
| 12 | g.109803042C>A | CA386656074 | TRPV4 | c.661G>T (p.Gly221Cys) n.692G>T c.559G>T (p.Gly187Cys) c.814G>T (p.Gly272Cys) | |
| 12 | g.109803042C= | CA2062577619 | TRPV4 | c.661G= (p.Gly221=) n.692G= c.559G= (p.Gly187=) c.814G= (p.Gly272=) | |
| 12 | g.109803042C>G | CA386656075 | TRPV4 | c.661G>C (p.Gly221Arg) n.692G>C c.559G>C (p.Gly187Arg) c.814G>C (p.Gly272Arg) | |
| 12 | g.109803042C>T | CA6780479 | TRPV4 | c.661G>A (p.Gly221Ser) n.692G>A c.559G>A (p.Gly187Ser) c.814G>A (p.Gly272Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109803043G>A | CA6780480 | TRPV4 | c.660C>T (p.Thr220=) n.691C>T c.558C>T (p.Thr186=) c.813C>T (p.Thr271=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803043G>C | CA481719693 | TRPV4 | c.660C>G (p.Thr220=) n.691C>G c.558C>G (p.Thr186=) c.813C>G (p.Thr271=) | |
| 12 | g.109803043G= | CA2062577624 | TRPV4 | c.660C= (p.Thr220=) n.691C= c.558C= (p.Thr186=) c.813C= (p.Thr271=) | |
| 12 | g.109803043G>T | CA481719695 | TRPV4 | c.660C>A (p.Thr220=) n.691C>A c.558C>A (p.Thr186=) c.813C>A (p.Thr271=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109803044G>A | CA386656076 | TRPV4 | c.659C>T (p.Thr220Ile) n.690C>T c.557C>T (p.Thr186Ile) c.812C>T (p.Thr271Ile) | |
| 12 | g.109803044G>C | CA386656078 | TRPV4 | c.659C>G (p.Thr220Ser) n.690C>G c.557C>G (p.Thr186Ser) c.812C>G (p.Thr271Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803044G= | CA2062577627 | TRPV4 | c.659C= (p.Thr220=) n.690C= c.557C= (p.Thr186=) c.812C= (p.Thr271=) | |
| 12 | g.109803044G>T | CA386656077 | TRPV4 | c.659C>A (p.Thr220Asn) n.690C>A c.557C>A (p.Thr186Asn) c.812C>A (p.Thr271Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109803045T>A | CA386656079 | TRPV4 | c.658A>T (p.Thr220Ser) n.689A>T c.556A>T (p.Thr186Ser) c.811A>T (p.Thr271Ser) | |
| 12 | g.109803045T>C | CA386656080 | TRPV4 | c.658A>G (p.Thr220Ala) n.689A>G c.556A>G (p.Thr186Ala) c.811A>G (p.Thr271Ala) | dbSNP gnomAD v4 |
| 12 | g.109803045T>G | CA386656081 | TRPV4 | c.658A>C (p.Thr220Pro) n.689A>C c.556A>C (p.Thr186Pro) c.811A>C (p.Thr271Pro) | |
| 12 | g.109803045T= | CA2062577632 | TRPV4 | c.658A= (p.Thr220=) n.689A= c.556A= (p.Thr186=) c.811A= (p.Thr271=) | |
| 12 | g.109803046G>A | CA481719700 | TRPV4 | c.657C>T (p.Arg219=) n.688C>T c.555C>T (p.Arg185=) c.810C>T (p.Arg270=) | ClinVar |
| 12 | g.109803046G>C | CA481719701 | TRPV4 | c.657C>G (p.Arg219=) n.688C>G c.555C>G (p.Arg185=) c.810C>G (p.Arg270=) | |
| 12 | g.109803046G>T | CA481719703 | TRPV4 | c.657C>A (p.Arg219=) n.688C>A c.555C>A (p.Arg185=) c.810C>A (p.Arg270=) | |
| 12 | g.109803047C>A | CA386656082 | TRPV4 | c.656G>T (p.Arg219Leu) n.687G>T c.554G>T (p.Arg185Leu) c.809G>T (p.Arg270Leu) | |
| 12 | g.109803047C= | CA2062577635 | TRPV4 | c.656G= (p.Arg219=) n.687G= c.554G= (p.Arg185=) c.809G= (p.Arg270=) | |
| 12 | g.109803047C>G | CA386656083 | TRPV4 | c.656G>C (p.Arg219Pro) n.687G>C c.554G>C (p.Arg185Pro) c.809G>C (p.Arg270Pro) | |
| 12 | g.109803047C>T | CA6780481 | TRPV4 | c.656G>A (p.Arg219His) n.687G>A c.554G>A (p.Arg185His) c.809G>A (p.Arg270His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803048G>A | CA6780482 | TRPV4 | c.655C>T (p.Arg219Cys) n.686C>T c.553C>T (p.Arg185Cys) c.808C>T (p.Arg270Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803048G>C | CA386656084 | TRPV4 | c.655C>G (p.Arg219Gly) n.686C>G c.553C>G (p.Arg185Gly) c.808C>G (p.Arg270Gly) | |
| 12 | g.109803048G= | CA2062577644 | TRPV4 | c.655C= (p.Arg219=) n.686C= c.553C= (p.Arg185=) c.808C= (p.Arg270=) | |
| 12 | g.109803048G>T | CA386656085 | TRPV4 | c.655C>A (p.Arg219Ser) n.686C>A c.553C>A (p.Arg185Ser) c.808C>A (p.Arg270Ser) | |
| 12 | g.109803049C>A | CA386656086 | TRPV4 | c.654G>T (p.Glu218Asp) n.685G>T c.552G>T (p.Glu184Asp) c.807G>T (p.Glu269Asp) | |
| 12 | g.109803049C= | CA2062577649 | TRPV4 | c.654G= (p.Glu218=) n.685G= c.552G= (p.Glu184=) c.807G= (p.Glu269=) | |
| 12 | g.109803049C>G | CA386656087 | TRPV4 | c.654G>C (p.Glu218Asp) n.685G>C c.552G>C (p.Glu184Asp) c.807G>C (p.Glu269Asp) | |
| 12 | g.109803049C>T | CA481719710 | TRPV4 | c.654G>A (p.Glu218=) n.685G>A c.552G>A (p.Glu184=) c.807G>A (p.Glu269=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803050T>A | CA386656090 | TRPV4 | c.653A>T (p.Glu218Val) n.684A>T c.551A>T (p.Glu184Val) c.806A>T (p.Glu269Val) | |
| 12 | g.109803050T>C | CA386656089 | TRPV4 | c.653A>G (p.Glu218Gly) n.684A>G c.551A>G (p.Glu184Gly) c.806A>G (p.Glu269Gly) | |
| 12 | g.109803050T>G | CA386656088 | TRPV4 | c.653A>C (p.Glu218Ala) n.684A>C c.551A>C (p.Glu184Ala) c.806A>C (p.Glu269Ala) | |
| 12 | g.109803051C>A | CA386656091 | TRPV4 | c.652G>T (p.Glu218Ter) n.683G>T c.550G>T (p.Glu184Ter) c.805G>T (p.Glu269Ter) | |
| 12 | g.109803051C= | CA2062577652 | TRPV4 | c.652G= (p.Glu218=) n.683G= c.550G= (p.Glu184=) c.805G= (p.Glu269=) | |
| 12 | g.109803051C>G | CA386656092 | TRPV4 | c.652G>C (p.Glu218Gln) n.683G>C c.550G>C (p.Glu184Gln) c.805G>C (p.Glu269Gln) | |
| 12 | g.109803051C>T | CA347789 | TRPV4 | c.652G>A (p.Glu218Lys) n.683G>A c.550G>A (p.Glu184Lys) c.805G>A (p.Glu269Lys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.109803052C>A | CA481719718 | TRPV4 | c.651G>T (p.Ala217=) n.682G>T c.549G>T (p.Ala183=) c.804G>T (p.Ala268=) | |
| 12 | g.109803052C= | CA2062577657 | TRPV4 | c.651G= (p.Ala217=) n.682G= c.549G= (p.Ala183=) c.804G= (p.Ala268=) | |
| 12 | g.109803052C>G | CA481719720 | TRPV4 | c.651G>C (p.Ala217=) n.682G>C c.549G>C (p.Ala183=) c.804G>C (p.Ala268=) | |
| 12 | g.109803052C>T | CA6780483 | TRPV4 | c.651G>A (p.Ala217=) n.682G>A c.549G>A (p.Ala183=) c.804G>A (p.Ala268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803054_109803055del | CA2840060006 | TRPV4 | c.650_651del (p.Ala217GlyfsTer11) n.681_682del c.548_549del (p.Ala183GlyfsTer11) c.803_804del (p.Ala268GlyfsTer11) | |
| 12 | g.109803053G>A | CA6780484 | TRPV4 | c.650C>T (p.Ala217Val) n.681C>T c.548C>T (p.Ala183Val) c.803C>T (p.Ala268Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803053G>C | CA386656093 | TRPV4 | c.650C>G (p.Ala217Gly) n.681C>G c.548C>G (p.Ala183Gly) c.803C>G (p.Ala268Gly) | |
| 12 | g.109803053G= | CA2062577662 | TRPV4 | c.650C= (p.Ala217=) n.681C= c.548C= (p.Ala183=) c.803C= (p.Ala268=) | |
| 12 | g.109803053G>T | CA386656094 | TRPV4 | c.650C>A (p.Ala217Glu) n.681C>A c.548C>A (p.Ala183Glu) c.803C>A (p.Ala268Glu) | |
| 12 | g.109803054C>A | CA347739 | TRPV4 | c.649G>T (p.Ala217Ser) n.680G>T c.547G>T (p.Ala183Ser) c.802G>T (p.Ala268Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803054C= | CA2062577672 | TRPV4 | c.649G= (p.Ala217=) n.680G= c.547G= (p.Ala183=) c.802G= (p.Ala268=) | |
| 12 | g.109803054C>G | CA386656095 | TRPV4 | c.649G>C (p.Ala217Pro) n.680G>C c.547G>C (p.Ala183Pro) c.802G>C (p.Ala268Pro) | |
| 12 | g.109803054C>T | CA6780485 | TRPV4 | c.649G>A (p.Ala217Thr) n.680G>A c.547G>A (p.Ala183Thr) c.802G>A (p.Ala268Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803055G>A | CA6780486 | TRPV4 | c.648C>T (p.Ile216=) n.679C>T c.546C>T (p.Ile182=) c.801C>T (p.Ile267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109803055G>C | CA386656096 | TRPV4 | c.648C>G (p.Ile216Met) n.679C>G c.546C>G (p.Ile182Met) c.801C>G (p.Ile267Met) | ClinVar |
| 12 | g.109803055G= | CA2062577677 | TRPV4 | c.648C= (p.Ile216=) n.679C= c.546C= (p.Ile182=) c.801C= (p.Ile267=) | |
| 12 | g.109803055G>T | CA481719726 | TRPV4 | c.648C>A (p.Ile216=) n.679C>A c.546C>A (p.Ile182=) c.801C>A (p.Ile267=) | |
| 12 | g.109803056A>C | CA386656099 | TRPV4 | c.647T>G (p.Ile216Ser) n.678T>G c.545T>G (p.Ile182Ser) c.800T>G (p.Ile267Ser) | |
| 12 | g.109803056A>G | CA386656098 | TRPV4 | c.647T>C (p.Ile216Thr) n.678T>C c.545T>C (p.Ile182Thr) c.800T>C (p.Ile267Thr) | |
| 12 | g.109803056A>T | CA386656097 | TRPV4 | c.647T>A (p.Ile216Asn) n.678T>A c.545T>A (p.Ile182Asn) c.800T>A (p.Ile267Asn) | |
| 12 | g.109803057T>A | CA386656100 | TRPV4 | c.646A>T (p.Ile216Phe) n.677A>T c.544A>T (p.Ile182Phe) c.799A>T (p.Ile267Phe) | |
| 12 | g.109803057T>C | CA386656102 | TRPV4 | c.646A>G (p.Ile216Val) n.677A>G c.544A>G (p.Ile182Val) c.799A>G (p.Ile267Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803057T>G | CA386656101 | TRPV4 | c.646A>C (p.Ile216Leu) n.677A>C c.544A>C (p.Ile182Leu) c.799A>C (p.Ile267Leu) | |
| 12 | g.109803057T= | CA2062577683 | TRPV4 | c.646A= (p.Ile216=) n.677A= c.544A= (p.Ile182=) c.799A= (p.Ile267=) | |
| 12 | g.109803058G>A | CA481719732 | TRPV4 | c.645C>T (p.Asp215=) n.676C>T c.543C>T (p.Asp181=) c.798C>T (p.Asp266=) | |
| 12 | g.109803058G>C | CA386656103 | TRPV4 | c.645C>G (p.Asp215Glu) n.676C>G c.543C>G (p.Asp181Glu) c.798C>G (p.Asp266Glu) | |
| 12 | g.109803058G>T | CA386656104 | TRPV4 | c.645C>A (p.Asp215Glu) n.676C>A c.543C>A (p.Asp181Glu) c.798C>A (p.Asp266Glu) | |
| 12 | g.109803059T>A | CA386656105 | TRPV4 | c.644A>T (p.Asp215Val) n.675A>T c.542A>T (p.Asp181Val) c.797A>T (p.Asp266Val) | |
| 12 | g.109803059T>C | CA386656106 | TRPV4 | c.644A>G (p.Asp215Gly) n.675A>G c.542A>G (p.Asp181Gly) c.797A>G (p.Asp266Gly) | |
| 12 | g.109803059T>G | CA386656107 | TRPV4 | c.644A>C (p.Asp215Ala) n.675A>C c.542A>C (p.Asp181Ala) c.797A>C (p.Asp266Ala) | |
| 12 | g.109803060C>A | CA386656108 | TRPV4 | c.643G>T (p.Asp215Tyr) n.674G>T c.541G>T (p.Asp181Tyr) c.796G>T (p.Asp266Tyr) | |
| 12 | g.109803060C= | CA2062577691 | TRPV4 | c.643G= (p.Asp215=) n.674G= c.541G= (p.Asp181=) c.796G= (p.Asp266=) | |
| 12 | g.109803060C>G | CA386656109 | TRPV4 | c.643G>C (p.Asp215His) n.674G>C c.541G>C (p.Asp181His) c.796G>C (p.Asp266His) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109803060C>T | CA386656110 | TRPV4 | c.643G>A (p.Asp215Asn) n.674G>A c.541G>A (p.Asp181Asn) c.796G>A (p.Asp266Asn) | gnomAD v4 |
| 12 | g.109803061C>A | CA481719740 | TRPV4 | c.642G>T (p.Leu214=) n.673G>T c.540G>T (p.Leu180=) c.795G>T (p.Leu265=) | |
| 12 | g.109803061C>G | CA481719741 | TRPV4 | c.642G>C (p.Leu214=) n.673G>C c.540G>C (p.Leu180=) c.795G>C (p.Leu265=) | |
| 12 | g.109803061C>T | CA481719743 | TRPV4 | c.642G>A (p.Leu214=) n.673G>A c.540G>A (p.Leu180=) c.795G>A (p.Leu265=) | |
| 12 | g.109803062A>C | CA386656111 | TRPV4 | c.641T>G (p.Leu214Arg) n.672T>G c.539T>G (p.Leu180Arg) c.794T>G (p.Leu265Arg) | |
| 12 | g.109803062A>G | CA386656112 | TRPV4 | c.641T>C (p.Leu214Pro) n.672T>C c.539T>C (p.Leu180Pro) c.794T>C (p.Leu265Pro) | gnomAD v4 |
| 12 | g.109803062A>T | CA386656113 | TRPV4 | c.641T>A (p.Leu214Gln) n.672T>A c.539T>A (p.Leu180Gln) c.794T>A (p.Leu265Gln) | |
| 12 | g.109803062dup | CA2838798400 | TRPV4 | c.641dup (p.Asp215GlyfsTer14) n.672dup c.539dup (p.Asp181GlyfsTer14) c.794dup (p.Asp266GlyfsTer14) | |
| 12 | g.109803063G>A | CA6780487 | TRPV4 | c.640C>T (p.Leu214=) n.671C>T c.538C>T (p.Leu180=) c.793C>T (p.Leu265=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109803063G>C | CA386656114 | TRPV4 | c.640C>G (p.Leu214Val) n.671C>G c.538C>G (p.Leu180Val) c.793C>G (p.Leu265Val) | gnomAD v4 |
| 12 | g.109803063G= | CA2062577694 | TRPV4 | c.640C= (p.Leu214=) n.671C= c.538C= (p.Leu180=) c.793C= (p.Leu265=) | |
| 12 | g.109803063G>T | CA386656115 | TRPV4 | c.640C>A (p.Leu214Met) n.671C>A c.538C>A (p.Leu180Met) c.793C>A (p.Leu265Met) | |
| 12 | g.109803064C>A | CA481719752 | TRPV4 | c.639G>T (p.Leu213=) n.670G>T c.537G>T (p.Leu179=) c.792G>T (p.Leu264=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109803064C= | CA2062577697 | TRPV4 | c.639G= (p.Leu213=) n.670G= c.537G= (p.Leu179=) c.792G= (p.Leu264=) | |
| 12 | g.109803064C>G | CA481719751 | TRPV4 | c.639G>C (p.Leu213=) n.670G>C c.537G>C (p.Leu179=) c.792G>C (p.Leu264=) | |
| 12 | g.109803064C>T | CA481719749 | TRPV4 | c.639G>A (p.Leu213=) n.670G>A c.537G>A (p.Leu179=) c.792G>A (p.Leu264=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109803065A>C | CA386656116 | TRPV4 | c.638T>G (p.Leu213Arg) n.669T>G c.536T>G (p.Leu179Arg) c.791T>G (p.Leu264Arg) | |
| 12 | g.109803065A>G | CA386656117 | TRPV4 | c.638T>C (p.Leu213Pro) n.669T>C c.536T>C (p.Leu179Pro) c.791T>C (p.Leu264Pro) | |
| 12 | g.109803065A>T | CA386656118 | TRPV4 | c.638T>A (p.Leu213Gln) n.669T>A c.536T>A (p.Leu179Gln) c.791T>A (p.Leu264Gln) | |
| 12 | g.109803066G>A | CA481719756 | TRPV4 | c.637C>T (p.Leu213=) n.668C>T c.535C>T (p.Leu179=) c.790C>T (p.Leu264=) | dbSNP |
| 12 | g.109803066G>C | CA386656119 | TRPV4 | c.637C>G (p.Leu213Val) n.668C>G c.535C>G (p.Leu179Val) c.790C>G (p.Leu264Val) | |
| 12 | g.109803066G= | CA2062577700 | TRPV4 | c.637C= (p.Leu213=) n.668C= c.535C= (p.Leu179=) c.790C= (p.Leu264=) | |
| 12 | g.109803066G>T | CA386656120 | TRPV4 | c.637C>A (p.Leu213Met) n.668C>A c.535C>A (p.Leu179Met) c.790C>A (p.Leu264Met) | |
| 12 | g.109803067C>A | CA481719759 | TRPV4 | c.636G>T (p.Val212=) n.667G>T c.534G>T (p.Val178=) c.789G>T (p.Val263=) | gnomAD v4 |
| 12 | g.109803067C>G | CA481719760 | TRPV4 | c.636G>C (p.Val212=) n.667G>C c.534G>C (p.Val178=) c.789G>C (p.Val263=) | |
| 12 | g.109803067C>T | CA481719762 | TRPV4 | c.636G>A (p.Val212=) n.667G>A c.534G>A (p.Val178=) c.789G>A (p.Val263=) | |
| 12 | g.109803068A>C | CA386656121 | TRPV4 | c.635T>G (p.Val212Gly) n.666T>G c.533T>G (p.Val178Gly) c.788T>G (p.Val263Gly) | |
| 12 | g.109803068A>G | CA386656122 | TRPV4 | c.635T>C (p.Val212Ala) n.666T>C c.533T>C (p.Val178Ala) c.788T>C (p.Val263Ala) | |
| 12 | g.109803068A>T | CA386656123 | TRPV4 | c.635T>A (p.Val212Glu) n.666T>A c.533T>A (p.Val178Glu) c.788T>A (p.Val263Glu) | |
| 12 | g.109803069C>A | CA386656124 | TRPV4 | c.634G>T (p.Val212Leu) n.665G>T c.532G>T (p.Val178Leu) c.787G>T (p.Val263Leu) | |
| 12 | g.109803069C= | CA2062577701 | TRPV4 | c.634G= (p.Val212=) n.665G= c.532G= (p.Val178=) c.787G= (p.Val263=) | |
| 12 | g.109803069C>G | CA386656125 | TRPV4 | c.634G>C (p.Val212Leu) n.665G>C c.532G>C (p.Val178Leu) c.787G>C (p.Val263Leu) | gnomAD v4 |
| 12 | g.109803069C>T | CA386656126 | TRPV4 | c.634G>A (p.Val212Met) n.665G>A c.532G>A (p.Val178Met) c.787G>A (p.Val263Met) | ClinVar dbSNP |
| 12 | g.109803070A= | CA2062577704 | TRPV4 | c.633T= (p.Pro211=) n.664T= c.531T= (p.Pro177=) c.786T= (p.Pro262=) | |
| 12 | g.109803070A>C | CA481719768 | TRPV4 | c.633T>G (p.Pro211=) n.664T>G c.531T>G (p.Pro177=) c.786T>G (p.Pro262=) | |
| 12 | g.109803070A>G | CA481719769 | TRPV4 | c.633T>C (p.Pro211=) n.664T>C c.531T>C (p.Pro177=) c.786T>C (p.Pro262=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109803070A>T | CA481719770 | TRPV4 | c.633T>A (p.Pro211=) n.664T>A c.531T>A (p.Pro177=) c.786T>A (p.Pro262=) | |
| 12 | g.109803071G>A | CA386656128 | TRPV4 | c.632C>T (p.Pro211Leu) n.663C>T c.530C>T (p.Pro177Leu) c.785C>T (p.Pro262Leu) | dbSNP gnomAD v4 |
| 12 | g.109803071G>C | CA386656129 | TRPV4 | c.632C>G (p.Pro211Arg) n.663C>G c.530C>G (p.Pro177Arg) c.785C>G (p.Pro262Arg) | |
| 12 | g.109803071G= | CA2062577709 | TRPV4 | c.632C= (p.Pro211=) n.663C= c.530C= (p.Pro177=) c.785C= (p.Pro262=) | |
| 12 | g.109803071G>T | CA386656127 | TRPV4 | c.632C>A (p.Pro211His) n.663C>A c.530C>A (p.Pro177His) c.785C>A (p.Pro262His) | |
| 12 | g.109803073dup | CA2838798398 | TRPV4 | c.632dup (p.Val212CysfsTer17) n.663dup c.530dup (p.Val178CysfsTer17) c.785dup (p.Val263CysfsTer17) | |
| 12 | g.109803071_109803078delinsGGGATGGT | CA2062577711 | TRPV4 | c.625_632delinsACCATCCC (p.Thr209=) n.656_663delinsACCATCCC c.523_530delinsACCATCCC (p.Thr175=) c.778_785delinsACCATCCC (p.Thr260=) | |
| 12 | g.109803072G>A | CA386656130 | TRPV4 | c.631C>T (p.Pro211Ser) n.662C>T c.529C>T (p.Pro177Ser) c.784C>T (p.Pro262Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109803072G>C | CA386656131 | TRPV4 | c.631C>G (p.Pro211Ala) n.662C>G c.529C>G (p.Pro177Ala) c.784C>G (p.Pro262Ala) | |
| 12 | g.109803072G= | CA2062577716 | TRPV4 | c.631C= (p.Pro211=) n.662C= c.529C= (p.Pro177=) c.784C= (p.Pro262=) | |
| 12 | g.109803072G>T | CA386656132 | TRPV4 | c.631C>A (p.Pro211Thr) n.662C>A c.529C>A (p.Pro177Thr) c.784C>A (p.Pro262Thr) | |
| 12 | g.109803073_109803079del | CA951696340 | TRPV4 | c.625_631del (p.Thr209LeufsTer13) n.656_662del c.523_529del (p.Thr175LeufsTer13) c.778_784del (p.Thr260LeufsTer13) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109803072_109803073insTTCA | CA2062577719 | TRPV4 | c.630_631insTGAA (p.Pro211Ter) n.661_662insTGAA c.528_529insTGAA (p.Pro177Ter) c.783_784insTGAA (p.Pro262Ter) | dbSNP |
| 12 | g.109803073G>A | CA6780488 | TRPV4 | c.630C>T (p.Ile210=) n.661C>T c.528C>T (p.Ile176=) c.783C>T (p.Ile261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109803073G>C | CA386656133 | TRPV4 | c.630C>G (p.Ile210Met) n.661C>G c.528C>G (p.Ile176Met) c.783C>G (p.Ile261Met) | |
| 12 | g.109803073G= | CA2062577720 | TRPV4 | c.630C= (p.Ile210=) n.661C= c.528C= (p.Ile176=) c.783C= (p.Ile261=) | |
| 12 | g.109803073G>T | CA481719778 | TRPV4 | c.630C>A (p.Ile210=) n.661C>A c.528C>A (p.Ile176=) c.783C>A (p.Ile261=) | |
| 12 | g.109803073_109803080delinsGATGGTGT | CA2062577723 | TRPV4 | c.623_630delinsACACCATC (p.Asp208=) n.654_661delinsACACCATC c.521_528delinsACACCATC (p.Asp174=) c.776_783delinsACACCATC (p.Asp259=) | |
| 12 | g.109803074A= | CA2062577731 | TRPV4 | c.629T= (p.Ile210=) n.660T= c.527T= (p.Ile176=) c.782T= (p.Ile261=) | |
| 12 | g.109803074A>C | CA386656135 | TRPV4 | c.629T>G (p.Ile210Ser) n.660T>G c.527T>G (p.Ile176Ser) c.782T>G (p.Ile261Ser) | |
| 12 | g.109803074A>G | CA6780489 | TRPV4 | c.629T>C (p.Ile210Thr) n.660T>C c.527T>C (p.Ile176Thr) c.782T>C (p.Ile261Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109803074A>T | CA386656134 | TRPV4 | c.629T>A (p.Ile210Asn) n.660T>A c.527T>A (p.Ile176Asn) c.782T>A (p.Ile261Asn) | |
| 12 | g.109803074_109803080del | CA2062577729 | TRPV4 | c.623_629del (p.Asp208AlafsTer14) n.654_660del c.521_527del (p.Asp174AlafsTer14) c.776_782del (p.Asp259AlafsTer14) | dbSNP |
| 12 | g.109803075T>A | CA386656136 | TRPV4 | c.628A>T (p.Ile210Phe) n.659A>T c.526A>T (p.Ile176Phe) c.781A>T (p.Ile261Phe) | |
| 12 | g.109803075T>C | CA386656137 | TRPV4 | c.628A>G (p.Ile210Val) n.659A>G c.526A>G (p.Ile176Val) c.781A>G (p.Ile261Val) | gnomAD v4 |
| 12 | g.109803075T>G | CA386656138 | TRPV4 | c.628A>C (p.Ile210Leu) n.659A>C c.526A>C (p.Ile176Leu) c.781A>C (p.Ile261Leu) | |
| 12 | g.109803076G>A | CA481719784 | TRPV4 | c.627C>T (p.Thr209=) n.658C>T c.525C>T (p.Thr175=) c.780C>T (p.Thr260=) | |
| 12 | g.109803076G>C | CA481719785 | TRPV4 | c.627C>G (p.Thr209=) n.658C>G c.525C>G (p.Thr175=) c.780C>G (p.Thr260=) | |
| 12 | g.109803076G>T | CA481719787 | TRPV4 | c.627C>A (p.Thr209=) n.658C>A c.525C>A (p.Thr175=) c.780C>A (p.Thr260=) | |
| 12 | g.109803077G>A | CA386656139 | TRPV4 | c.626C>T (p.Thr209Ile) n.657C>T c.524C>T (p.Thr175Ile) c.779C>T (p.Thr260Ile) | |
| 12 | g.109803077G>C | CA386656140 | TRPV4 | c.626C>G (p.Thr209Ser) n.657C>G c.524C>G (p.Thr175Ser) c.779C>G (p.Thr260Ser) | |
| 12 | g.109803077G>T | CA386656141 | TRPV4 | c.626C>A (p.Thr209Asn) n.657C>A c.524C>A (p.Thr175Asn) c.779C>A (p.Thr260Asn) | |
| 12 | g.109803078T>A | CA386656142 | TRPV4 | c.625A>T (p.Thr209Ser) n.656A>T c.523A>T (p.Thr175Ser) c.778A>T (p.Thr260Ser) | |
| 12 | g.109803078T>C | CA386656144 | TRPV4 | c.625A>G (p.Thr209Ala) n.656A>G c.523A>G (p.Thr175Ala) c.778A>G (p.Thr260Ala) | |
| 12 | g.109803078T>G | CA386656143 | TRPV4 | c.625A>C (p.Thr209Pro) n.656A>C c.523A>C (p.Thr175Pro) c.778A>C (p.Thr260Pro) | |
| 12 | g.109803079G>A | CA6780490 | TRPV4 | c.624C>T (p.Asp208=) n.655C>T c.522C>T (p.Asp174=) c.777C>T (p.Asp259=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803079G>C | CA386656145 | TRPV4 | c.624C>G (p.Asp208Glu) n.655C>G c.522C>G (p.Asp174Glu) c.777C>G (p.Asp259Glu) | |
| 12 | g.109803079G= | CA2062577736 | TRPV4 | c.624C= (p.Asp208=) n.655C= c.522C= (p.Asp174=) c.777C= (p.Asp259=) | |
| 12 | g.109803079G>T | CA386656146 | TRPV4 | c.624C>A (p.Asp208Glu) n.655C>A c.522C>A (p.Asp174Glu) c.777C>A (p.Asp259Glu) | |
| 12 | g.109803080T>A | CA386656147 | TRPV4 | c.623A>T (p.Asp208Val) n.654A>T c.521A>T (p.Asp174Val) c.776A>T (p.Asp259Val) | |
| 12 | g.109803080T>C | CA386656148 | TRPV4 | c.623A>G (p.Asp208Gly) n.654A>G c.521A>G (p.Asp174Gly) c.776A>G (p.Asp259Gly) | |
| 12 | g.109803080T>G | CA386656149 | TRPV4 | c.623A>C (p.Asp208Ala) n.654A>C c.521A>C (p.Asp174Ala) c.776A>C (p.Asp259Ala) | |
| 12 | g.109803080T= | CA2062577740 | TRPV4 | c.623A= (p.Asp208=) n.654A= c.521A= (p.Asp174=) c.776A= (p.Asp259=) | |
| 12 | g.109803080_109803081insTCAG | CA951696354 | TRPV4 | c.622_623insCTGA (p.Asp208AlafsTer22) n.653_654insCTGA c.520_521insCTGA (p.Asp174AlafsTer22) c.775_776insCTGA (p.Asp259AlafsTer22) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109803081C>A | CA386656150 | TRPV4 | c.622G>T (p.Asp208Tyr) n.653G>T c.520G>T (p.Asp174Tyr) c.775G>T (p.Asp259Tyr) | |
| 12 | g.109803081C= | CA2062577746 | TRPV4 | c.622G= (p.Asp208=) n.653G= c.520G= (p.Asp174=) c.775G= (p.Asp259=) | |
| 12 | g.109803081C>G | CA386656151 | TRPV4 | c.622G>C (p.Asp208His) n.653G>C c.520G>C (p.Asp174His) c.775G>C (p.Asp259His) | |
| 12 | g.109803081C>T | CA6780491 | TRPV4 | c.622G>A (p.Asp208Asn) n.653G>A c.520G>A (p.Asp174Asn) c.775G>A (p.Asp259Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803082G>A | CA6780492 | TRPV4 | c.621C>T (p.Asn207=) n.652C>T c.519C>T (p.Asn173=) c.774C>T (p.Asn258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803082G>C | CA386656152 | TRPV4 | c.621C>G (p.Asn207Lys) n.652C>G c.519C>G (p.Asn173Lys) c.774C>G (p.Asn258Lys) | ClinVar |
| 12 | g.109803082G= | CA2062577752 | TRPV4 | c.621C= (p.Asn207=) n.652C= c.519C= (p.Asn173=) c.774C= (p.Asn258=) | |
| 12 | g.109803082G>T | CA386656153 | TRPV4 | c.621C>A (p.Asn207Lys) n.652C>A c.519C>A (p.Asn173Lys) c.774C>A (p.Asn258Lys) | |
| 12 | g.109803083T>A | CA386656155 | TRPV4 | c.620A>T (p.Asn207Ile) n.651A>T c.518A>T (p.Asn173Ile) c.773A>T (p.Asn258Ile) | |
| 12 | g.109803083T>C | CA386656156 | TRPV4 | c.620A>G (p.Asn207Ser) n.651A>G c.518A>G (p.Asn173Ser) c.773A>G (p.Asn258Ser) | |
| 12 | g.109803083T>G | CA386656154 | TRPV4 | c.620A>C (p.Asn207Thr) n.651A>C c.518A>C (p.Asn173Thr) c.773A>C (p.Asn258Thr) | |
| 12 | g.109803084T>A | CA386656158 | TRPV4 | c.619A>T (p.Asn207Tyr) n.650A>T c.517A>T (p.Asn173Tyr) c.772A>T (p.Asn258Tyr) | |
| 12 | g.109803084T>C | CA386656157 | TRPV4 | c.619A>G (p.Asn207Asp) n.650A>G c.517A>G (p.Asn173Asp) c.772A>G (p.Asn258Asp) | |
| 12 | g.109803084T>G | CA386656159 | TRPV4 | c.619A>C (p.Asn207His) n.650A>C c.517A>C (p.Asn173His) c.772A>C (p.Asn258His) | |
| 12 | g.109803085del | CA2841485709 | TRPV4 | c.618del (p.Asn207ThrfsTer17) n.649del c.516del (p.Asn173ThrfsTer17) c.771del (p.Asn258ThrfsTer17) | |
| 12 | g.109803085G>A | CA481719808 | TRPV4 | c.618C>T (p.Arg206=) n.649C>T c.516C>T (p.Arg172=) c.771C>T (p.Arg257=) | |
| 12 | g.109803085G>C | CA481719806 | TRPV4 | c.618C>G (p.Arg206=) n.649C>G c.516C>G (p.Arg172=) c.771C>G (p.Arg257=) | |
| 12 | g.109803085G>T | CA481719805 | TRPV4 | c.618C>A (p.Arg206=) n.649C>A c.516C>A (p.Arg172=) c.771C>A (p.Arg257=) | |
| 12 | g.109803086C>A | CA6780494 | TRPV4 | c.617G>T (p.Arg206Leu) n.648G>T c.515G>T (p.Arg172Leu) c.770G>T (p.Arg257Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803086C= | CA2062577757 | TRPV4 | c.617G= (p.Arg206=) n.648G= c.515G= (p.Arg172=) c.770G= (p.Arg257=) | |
| 12 | g.109803086C>G | CA386656160 | TRPV4 | c.617G>C (p.Arg206Pro) n.648G>C c.515G>C (p.Arg172Pro) c.770G>C (p.Arg257Pro) | |
| 12 | g.109803086C>T | CA6780493 | TRPV4 | c.617G>A (p.Arg206His) n.648G>A c.515G>A (p.Arg172His) c.770G>A (p.Arg257His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.109803087G>A | CA6780495 | TRPV4 | c.616C>T (p.Arg206Cys) n.647C>T c.514C>T (p.Arg172Cys) c.769C>T (p.Arg257Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803087G>C | CA386656161 | TRPV4 | c.616C>G (p.Arg206Gly) n.647C>G c.514C>G (p.Arg172Gly) c.769C>G (p.Arg257Gly) | gnomAD v4 |
| 12 | g.109803087G= | CA2062577763 | TRPV4 | c.616C= (p.Arg206=) n.647C= c.514C= (p.Arg172=) c.769C= (p.Arg257=) | |
| 12 | g.109803087G>T | CA386656162 | TRPV4 | c.616C>A (p.Arg206Ser) n.647C>A c.514C>A (p.Arg172Ser) c.769C>A (p.Arg257Ser) | |
| 12 | g.109803088G>A | CA481719817 | TRPV4 | c.615C>T (p.Gly205=) n.646C>T c.513C>T (p.Gly171=) c.768C>T (p.Gly256=) | |
| 12 | g.109803088G>C | CA481719815 | TRPV4 | c.615C>G (p.Gly205=) n.646C>G c.513C>G (p.Gly171=) c.768C>G (p.Gly256=) | |
| 12 | g.109803088G= | CA2062577769 | TRPV4 | c.615C= (p.Gly205=) n.646C= c.513C= (p.Gly171=) c.768C= (p.Gly256=) | |
| 12 | g.109803088G>T | CA6780496 | TRPV4 | c.615C>A (p.Gly205=) n.646C>A c.513C>A (p.Gly171=) c.768C>A (p.Gly256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803089C>A | CA386656163 | TRPV4 | c.614G>T (p.Gly205Val) n.645G>T c.512G>T (p.Gly171Val) c.767G>T (p.Gly256Val) | |
| 12 | g.109803089C= | CA2062577774 | TRPV4 | c.614G= (p.Gly205=) n.645G= c.512G= (p.Gly171=) c.767G= (p.Gly256=) | |
| 12 | g.109803089C>G | CA386656164 | TRPV4 | c.614G>C (p.Gly205Ala) n.645G>C c.512G>C (p.Gly171Ala) c.767G>C (p.Gly256Ala) | |
| 12 | g.109803089C>T | CA386656165 | TRPV4 | c.614G>A (p.Gly205Asp) n.645G>A c.512G>A (p.Gly171Asp) c.767G>A (p.Gly256Asp) | dbSNP gnomAD v2 COSMIC |
| 12 | g.109803090C>A | CA386656166 | TRPV4 | c.613G>T (p.Gly205Cys) n.644G>T c.511G>T (p.Gly171Cys) c.766G>T (p.Gly256Cys) | |
| 12 | g.109803090C>G | CA386656167 | TRPV4 | c.613G>C (p.Gly205Arg) n.644G>C c.511G>C (p.Gly171Arg) c.766G>C (p.Gly256Arg) | |
| 12 | g.109803090C>T | CA386656168 | TRPV4 | c.613G>A (p.Gly205Ser) n.644G>A c.511G>A (p.Gly171Ser) c.766G>A (p.Gly256Ser) | |
| 12 | g.109803091A>C | CA386656169 | TRPV4 | c.612T>G (p.Asn204Lys) n.643T>G c.510T>G (p.Asn170Lys) c.765T>G (p.Asn255Lys) | |
| 12 | g.109803091A>G | CA481719824 | TRPV4 | c.612T>C (p.Asn204=) n.643T>C c.510T>C (p.Asn170=) c.765T>C (p.Asn255=) | dbSNP |
| 12 | g.109803091A>T | CA386656170 | TRPV4 | c.612T>A (p.Asn204Lys) n.643T>A c.510T>A (p.Asn170Lys) c.765T>A (p.Asn255Lys) | |
| 12 | g.109803092T>A | CA386656172 | TRPV4 | c.611A>T (p.Asn204Ile) n.642A>T c.509A>T (p.Asn170Ile) c.764A>T (p.Asn255Ile) | dbSNP |
| 12 | g.109803092T>C | CA6780497 | TRPV4 | c.611A>G (p.Asn204Ser) n.642A>G c.509A>G (p.Asn170Ser) c.764A>G (p.Asn255Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.109803092T>G | CA386656171 | TRPV4 | c.611A>C (p.Asn204Thr) n.642A>C c.509A>C (p.Asn170Thr) c.764A>C (p.Asn255Thr) | |
| 12 | g.109803092T= | CA2062577778 | TRPV4 | c.611A= (p.Asn204=) n.642A= c.509A= (p.Asn170=) c.764A= (p.Asn255=) | |
| 12 | g.109803093T>A | CA386656173 | TRPV4 | c.610A>T (p.Asn204Tyr) n.641A>T c.508A>T (p.Asn170Tyr) c.763A>T (p.Asn255Tyr) | COSMIC |
| 12 | g.109803093T>C | CA386656174 | TRPV4 | c.610A>G (p.Asn204Asp) n.641A>G c.508A>G (p.Asn170Asp) c.763A>G (p.Asn255Asp) | |
| 12 | g.109803093T>G | CA386656175 | TRPV4 | c.610A>C (p.Asn204His) n.641A>C c.508A>C (p.Asn170His) c.763A>C (p.Asn255His) | |
| 12 | g.109803094G>A | CA481719830 | TRPV4 | c.609C>T (p.Ser203=) n.640C>T c.507C>T (p.Ser169=) c.762C>T (p.Ser254=) | dbSNP |
| 12 | g.109803094G>C | CA386656176 | TRPV4 | c.609C>G (p.Ser203Arg) n.640C>G c.507C>G (p.Ser169Arg) c.762C>G (p.Ser254Arg) | |
| 12 | g.109803094G= | CA2062577782 | TRPV4 | c.609C= (p.Ser203=) n.640C= c.507C= (p.Ser169=) c.762C= (p.Ser254=) | |
| 12 | g.109803094G>T | CA386656177 | TRPV4 | c.609C>A (p.Ser203Arg) n.640C>A c.507C>A (p.Ser169Arg) c.762C>A (p.Ser254Arg) | |
| 12 | g.109803095C>A | CA386656178 | TRPV4 | c.608G>T (p.Ser203Ile) n.639G>T c.506G>T (p.Ser169Ile) c.761G>T (p.Ser254Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.109803095C= | CA2062577784 | TRPV4 | c.608G= (p.Ser203=) n.639G= c.506G= (p.Ser169=) c.761G= (p.Ser254=) | |
| 12 | g.109803095C>G | CA386656179 | TRPV4 | c.608G>C (p.Ser203Thr) n.639G>C c.506G>C (p.Ser169Thr) c.761G>C (p.Ser254Thr) | |
| 12 | g.109803095C>T | CA386656180 | TRPV4 | c.608G>A (p.Ser203Asn) n.639G>A c.506G>A (p.Ser169Asn) c.761G>A (p.Ser254Asn) | ClinVar COSMIC |
| 12 | g.109803096T>A | CA386656181 | TRPV4 | c.607A>T (p.Ser203Cys) n.638A>T c.505A>T (p.Ser169Cys) c.760A>T (p.Ser254Cys) | |
| 12 | g.109803096T>C | CA386656182 | TRPV4 | c.607A>G (p.Ser203Gly) n.638A>G c.505A>G (p.Ser169Gly) c.760A>G (p.Ser254Gly) | dbSNP |
| 12 | g.109803096T>G | CA386656183 | TRPV4 | c.607A>C (p.Ser203Arg) n.638A>C c.505A>C (p.Ser169Arg) c.760A>C (p.Ser254Arg) | |
| 12 | g.109803096T= | CA2062577787 | TRPV4 | c.607A= (p.Ser203=) n.638A= c.505A= (p.Ser169=) c.760A= (p.Ser254=) | |
| 12 | g.109803097C>A | CA481719838 | TRPV4 | c.606G>T (p.Leu202=) n.637G>T c.504G>T (p.Leu168=) c.759G>T (p.Leu253=) | |
| 12 | g.109803097C>G | CA481719839 | TRPV4 | c.606G>C (p.Leu202=) n.637G>C c.504G>C (p.Leu168=) c.759G>C (p.Leu253=) | |
| 12 | g.109803097C>T | CA481719841 | TRPV4 | c.606G>A (p.Leu202=) n.637G>A c.504G>A (p.Leu168=) c.759G>A (p.Leu253=) | |
| 12 | g.109803098A= | CA2062577790 | TRPV4 | c.605T= (p.Leu202=) n.636T= c.503T= (p.Leu168=) c.758T= (p.Leu253=) | |
| 12 | g.109803098A>C | CA386656186 | TRPV4 | c.605T>G (p.Leu202Arg) n.636T>G c.503T>G (p.Leu168Arg) c.758T>G (p.Leu253Arg) | |
| 12 | g.109803098A>G | CA386656185 | TRPV4 | c.605T>C (p.Leu202Pro) n.636T>C c.503T>C (p.Leu168Pro) c.758T>C (p.Leu253Pro) | dbSNP gnomAD v4 |
| 12 | g.109803098A>T | CA386656184 | TRPV4 | c.605T>A (p.Leu202Gln) n.636T>A c.503T>A (p.Leu168Gln) c.758T>A (p.Leu253Gln) | |
| 12 | g.109803099G>A | CA481719845 | TRPV4 | c.604C>T (p.Leu202=) n.635C>T c.502C>T (p.Leu168=) c.757C>T (p.Leu253=) | |
| 12 | g.109803099G>C | CA386656188 | TRPV4 | c.604C>G (p.Leu202Val) n.635C>G c.502C>G (p.Leu168Val) c.757C>G (p.Leu253Val) | ClinVar dbSNP |
| 12 | g.109803099G= | CA2062577793 | TRPV4 | c.604C= (p.Leu202=) n.635C= c.502C= (p.Leu168=) c.757C= (p.Leu253=) | |
| 12 | g.109803099G>T | CA386656187 | TRPV4 | c.604C>A (p.Leu202Met) n.635C>A c.502C>A (p.Leu168Met) c.757C>A (p.Leu253Met) | |
| 12 | g.109803100G>A | CA481719848 | TRPV4 | c.603C>T (p.Asn201=) n.634C>T c.501C>T (p.Asn167=) c.756C>T (p.Asn252=) | ClinVar |
| 12 | g.109803100G>C | CA386656189 | TRPV4 | c.603C>G (p.Asn201Lys) n.634C>G c.501C>G (p.Asn167Lys) c.756C>G (p.Asn252Lys) | |
| 12 | g.109803100G>T | CA386656190 | TRPV4 | c.603C>A (p.Asn201Lys) n.634C>A c.501C>A (p.Asn167Lys) c.756C>A (p.Asn252Lys) | |
| 12 | g.109803101T>A | CA386656191 | TRPV4 | c.602A>T (p.Asn201Ile) n.633A>T c.500A>T (p.Asn167Ile) c.755A>T (p.Asn252Ile) | |
| 12 | g.109803101T>C | CA386656192 | TRPV4 | c.602A>G (p.Asn201Ser) n.633A>G c.500A>G (p.Asn167Ser) c.755A>G (p.Asn252Ser) | ClinVar dbSNP |
| 12 | g.109803101T>G | CA386656193 | TRPV4 | c.602A>C (p.Asn201Thr) n.633A>C c.500A>C (p.Asn167Thr) c.755A>C (p.Asn252Thr) | |
| 12 | g.109803101T= | CA2062577798 | TRPV4 | c.602A= (p.Asn201=) n.633A= c.500A= (p.Asn167=) c.755A= (p.Asn252=) | |
| 12 | g.109803102T>A | CA386656194 | TRPV4 | c.601A>T (p.Asn201Tyr) n.632A>T c.499A>T (p.Asn167Tyr) c.754A>T (p.Asn252Tyr) | |
| 12 | g.109803102T>C | CA386656195 | TRPV4 | c.601A>G (p.Asn201Asp) n.632A>G c.499A>G (p.Asn167Asp) c.754A>G (p.Asn252Asp) | |
| 12 | g.109803102T>G | CA386656196 | TRPV4 | c.601A>C (p.Asn201His) n.632A>C c.499A>C (p.Asn167His) c.754A>C (p.Asn252His) | |
| 12 | g.109803103C>A | CA481719856 | TRPV4 | c.600G>T (p.Leu200=) n.631G>T c.498G>T (p.Leu166=) c.753G>T (p.Leu251=) | |
| 12 | g.109803103C>G | CA481719858 | TRPV4 | c.600G>C (p.Leu200=) n.631G>C c.498G>C (p.Leu166=) c.753G>C (p.Leu251=) | |
| 12 | g.109803103C>T | CA481719859 | TRPV4 | c.600G>A (p.Leu200=) n.631G>A c.498G>A (p.Leu166=) c.753G>A (p.Leu251=) | gnomAD v4 |
| 12 | g.109803103dup | CA2841485710 | TRPV4 | c.600dup (p.Asn201GlufsTer28) n.631dup c.498dup (p.Asn167GlufsTer28) c.753dup (p.Asn252GlufsTer28) | |
| 12 | g.109803104A>C | CA386656197 | TRPV4 | c.599T>G (p.Leu200Arg) n.630T>G c.497T>G (p.Leu166Arg) c.752T>G (p.Leu251Arg) | |
| 12 | g.109803104A>G | CA386656198 | TRPV4 | c.599T>C (p.Leu200Pro) n.630T>C c.497T>C (p.Leu166Pro) c.752T>C (p.Leu251Pro) | ClinVar dbSNP |
| 12 | g.109803104A>T | CA386656199 | TRPV4 | c.599T>A (p.Leu200Gln) n.630T>A c.497T>A (p.Leu166Gln) c.752T>A (p.Leu251Gln) | |
| 12 | g.109803105G>A | CA481719863 | TRPV4 | c.598C>T (p.Leu200=) n.629C>T c.496C>T (p.Leu166=) c.751C>T (p.Leu251=) | |
| 12 | g.109803105G>C | CA386656200 | TRPV4 | c.598C>G (p.Leu200Val) n.629C>G c.496C>G (p.Leu166Val) c.751C>G (p.Leu251Val) | |
| 12 | g.109803105G>T | CA386656201 | TRPV4 | c.598C>A (p.Leu200Met) n.629C>A c.496C>A (p.Leu166Met) c.751C>A (p.Leu251Met) | |
| 12 | g.109803106C>A | CA386656202 | TRPV4 | c.597G>T (p.Leu199Phe) n.628G>T c.495G>T (p.Leu165Phe) c.750G>T (p.Leu250Phe) | |
| 12 | g.109803106C= | CA2062577804 | TRPV4 | c.597G= (p.Leu199=) n.628G= c.495G= (p.Leu165=) c.750G= (p.Leu250=) | |
| 12 | g.109803106C>G | CA347700 | TRPV4 | c.597G>C (p.Leu199Phe) n.628G>C c.495G>C (p.Leu165Phe) c.750G>C (p.Leu250Phe) | ClinVar dbSNP |
| 12 | g.109803106C>T | CA481719866 | TRPV4 | c.597G>A (p.Leu199=) n.628G>A c.495G>A (p.Leu165=) c.750G>A (p.Leu250=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.109803107A>C | CA386656203 | TRPV4 | c.596T>G (p.Leu199Trp) n.627T>G c.494T>G (p.Leu165Trp) c.749T>G (p.Leu250Trp) | |
| 12 | g.109803107A>G | CA386656204 | TRPV4 | c.596T>C (p.Leu199Ser) n.627T>C c.494T>C (p.Leu165Ser) c.749T>C (p.Leu250Ser) | |
| 12 | g.109803107A>T | CA386656205 | TRPV4 | c.596T>A (p.Leu199Ter) n.627T>A c.494T>A (p.Leu165Ter) c.749T>A (p.Leu250Ter) | |
| 12 | g.109803108A>C | CA386656206 | TRPV4 | c.595T>G (p.Leu199Val) n.626T>G c.493T>G (p.Leu165Val) c.748T>G (p.Leu250Val) | |
| 12 | g.109803108A>G | CA481719872 | TRPV4 | c.595T>C (p.Leu199=) n.626T>C c.493T>C (p.Leu165=) c.748T>C (p.Leu250=) | |
| 12 | g.109803108A>T | CA386656207 | TRPV4 | c.595T>A (p.Leu199Met) n.626T>A c.493T>A (p.Leu165Met) c.748T>A (p.Leu250Met) | |
| 12 | g.109803109G>A | CA481719874 | TRPV4 | c.594C>T (p.Ala198=) n.625C>T c.492C>T (p.Ala164=) c.747C>T (p.Ala249=) | |
| 12 | g.109803109G>C | CA481719876 | TRPV4 | c.594C>G (p.Ala198=) n.625C>G c.492C>G (p.Ala164=) c.747C>G (p.Ala249=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.109803109G= | CA2062577809 | TRPV4 | c.594C= (p.Ala198=) n.625C= c.492C= (p.Ala164=) c.747C= (p.Ala249=) | |
| 12 | g.109803109G>T | CA481719877 | TRPV4 | c.594C>A (p.Ala198=) n.625C>A c.492C>A (p.Ala164=) c.747C>A (p.Ala249=) | |
| 12 | g.109803110G>A | CA386656208 | TRPV4 | c.593C>T (p.Ala198Val) n.624C>T c.491C>T (p.Ala164Val) c.746C>T (p.Ala249Val) | |
| 12 | g.109803110G>C | CA349300 | TRPV4 | c.593C>G (p.Ala198Gly) n.624C>G c.491C>G (p.Ala164Gly) c.746C>G (p.Ala249Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803110G= | CA2062577814 | TRPV4 | c.593C= (p.Ala198=) n.624C= c.491C= (p.Ala164=) c.746C= (p.Ala249=) | |
| 12 | g.109803110G>T | CA386656209 | TRPV4 | c.593C>A (p.Ala198Asp) n.624C>A c.491C>A (p.Ala164Asp) c.746C>A (p.Ala249Asp) | |
| 12 | g.109803111C>A | CA6780498 | TRPV4 | c.592G>T (p.Ala198Ser) n.623G>T c.490G>T (p.Ala164Ser) c.745G>T (p.Ala249Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.109803111C= | CA2062577818 | TRPV4 | c.592G= (p.Ala198=) n.623G= c.490G= (p.Ala164=) c.745G= (p.Ala249=) | |
| 12 | g.109803111C>G | CA386656210 | TRPV4 | c.592G>C (p.Ala198Pro) n.623G>C c.490G>C (p.Ala164Pro) c.745G>C (p.Ala249Pro) | gnomAD v4 |
| 12 | g.109803111C>T | CA386656211 | TRPV4 | c.592G>A (p.Ala198Thr) n.623G>A c.490G>A (p.Ala164Thr) c.745G>A (p.Ala249Thr) | ClinVar dbSNP |
| 12 | g.109803112C>A | CA386656212 | TRPV4 | c.591G>T (p.Lys197Asn) n.622G>T c.489G>T (p.Lys163Asn) c.744G>T (p.Lys248Asn) | |
| 12 | g.109803112C>G | CA386656213 | TRPV4 | c.591G>C (p.Lys197Asn) n.622G>C c.489G>C (p.Lys163Asn) c.744G>C (p.Lys248Asn) | |
| 12 | g.109803112C>T | CA481719887 | TRPV4 | c.591G>A (p.Lys197=) n.622G>A c.489G>A (p.Lys163=) c.744G>A (p.Lys248=) | |
| 12 | g.109803113T>A | CA386656215 | TRPV4 | c.590A>T (p.Lys197Met) n.621A>T c.488A>T (p.Lys163Met) c.743A>T (p.Lys248Met) | |
| 12 | g.109803113T>C | CA129245 | TRPV4 | c.590A>G (p.Lys197Arg) n.621A>G c.488A>G (p.Lys163Arg) c.743A>G (p.Lys248Arg) | ClinVar dbSNP |
| 12 | g.109803113T>G | CA386656214 | TRPV4 | c.590A>C (p.Lys197Thr) n.621A>C c.488A>C (p.Lys163Thr) c.743A>C (p.Lys248Thr) | |
| 12 | g.109803113T= | CA2062577821 | TRPV4 | c.590A= (p.Lys197=) n.621A= c.488A= (p.Lys163=) c.743A= (p.Lys248=) |