Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.109808376del | CA481720289 | TRPV4 | c.482del (p.Gly161AlafsTer14) n.513del c.380del (p.Gly127AlafsTer14) c.635del (p.Gly212AlafsTer14) | dbSNP |
12 | g.109808374C>A | CA386657144 | TRPV4 | c.481G>T (p.Gly161Cys) n.512G>T c.379G>T (p.Gly127Cys) c.634G>T (p.Gly212Cys) | |
12 | g.109808374C>G | CA386657142 | TRPV4 | c.481G>C (p.Gly161Arg) n.512G>C c.379G>C (p.Gly127Arg) c.634G>C (p.Gly212Arg) | |
12 | g.109808374C>T | CA386657143 | TRPV4 | c.481G>A (p.Gly161Ser) n.512G>A c.379G>A (p.Gly127Ser) c.634G>A (p.Gly212Ser) | |
12 | g.109808375C>A | CA481720290 | TRPV4 | c.480G>T (p.Arg160=) n.511G>T c.378G>T (p.Arg126=) c.633G>T (p.Arg211=) | gnomAD v4 |
12 | g.109808375C>G | CA481720291 | TRPV4 | c.480G>C (p.Arg160=) n.511G>C c.378G>C (p.Arg126=) c.633G>C (p.Arg211=) | |
12 | g.109808375C>T | CA481720292 | TRPV4 | c.480G>A (p.Arg160=) n.511G>A c.378G>A (p.Arg126=) c.633G>A (p.Arg211=) | gnomAD v4 |
12 | g.109808376C>A | CA386657145 | TRPV4 | c.479G>T (p.Arg160Leu) n.510G>T c.377G>T (p.Arg126Leu) c.632G>T (p.Arg211Leu) | |
12 | g.109808376C= | CA2062582192 | TRPV4 | c.479G= (p.Arg160=) n.510G= c.377G= (p.Arg126=) c.632G= (p.Arg211=) | |
12 | g.109808376C>G | CA386657146 | TRPV4 | c.479G>C (p.Arg160Pro) n.510G>C c.377G>C (p.Arg126Pro) c.632G>C (p.Arg211Pro) | |
12 | g.109808376C>T | CA6780532 | TRPV4 | c.479G>A (p.Arg160Gln) n.510G>A c.377G>A (p.Arg126Gln) c.632G>A (p.Arg211Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109808376_109808377delinsCG | CA2062582196 | TRPV4 | c.478_479delinsCG (p.Arg160=) n.509_510delinsCG c.376_377delinsCG (p.Arg126=) c.631_632delinsCG (p.Arg211=) | |
12 | g.109808377G>A | CA6780533 | TRPV4 | c.478C>T (p.Arg160Trp) n.509C>T c.376C>T (p.Arg126Trp) c.631C>T (p.Arg211Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.109808377G>C | CA386657147 | TRPV4 | c.478C>G (p.Arg160Gly) n.509C>G c.376C>G (p.Arg126Gly) c.631C>G (p.Arg211Gly) | |
12 | g.109808377G= | CA2062582204 | TRPV4 | c.478C= (p.Arg160=) n.509C= c.376C= (p.Arg126=) c.631C= (p.Arg211=) | |
12 | g.109808377G>T | CA481720295 | TRPV4 | c.478C>A (p.Arg160=) n.509C>A c.376C>A (p.Arg126=) c.631C>A (p.Arg211=) | |
12 | g.109808379del | CA16619429 | TRPV4 | c.478del (p.Arg160GlyfsTer15) n.509del c.376del (p.Arg126GlyfsTer15) c.631del (p.Arg211GlyfsTer15) | ClinVar dbSNP gnomAD v4 |
12 | g.109808378G>A | CA481720296 | TRPV4 | c.477C>T (p.Ser159=) n.508C>T c.375C>T (p.Ser125=) c.630C>T (p.Ser210=) | |
12 | g.109808378G>C | CA243474557 | TRPV4 | c.477C>G (p.Ser159=) n.508C>G c.375C>G (p.Ser125=) c.630C>G (p.Ser210=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109808378G= | CA2062582209 | TRPV4 | c.477C= (p.Ser159=) n.508C= c.375C= (p.Ser125=) c.630C= (p.Ser210=) | |
12 | g.109808378G>T | CA481720297 | TRPV4 | c.477C>A (p.Ser159=) n.508C>A c.375C>A (p.Ser125=) c.630C>A (p.Ser210=) | |
12 | g.109808379G>A | CA386657148 | TRPV4 | c.476C>T (p.Ser159Phe) n.507C>T c.374C>T (p.Ser125Phe) c.629C>T (p.Ser210Phe) | |
12 | g.109808379G>C | CA386657149 | TRPV4 | c.476C>G (p.Ser159Cys) n.507C>G c.374C>G (p.Ser125Cys) c.629C>G (p.Ser210Cys) | |
12 | g.109808379G>T | CA386657150 | TRPV4 | c.476C>A (p.Ser159Tyr) n.507C>A c.374C>A (p.Ser125Tyr) c.629C>A (p.Ser210Tyr) | COSMIC |
12 | g.109808380A>C | CA386657151 | TRPV4 | c.475T>G (p.Ser159Ala) n.506T>G c.373T>G (p.Ser125Ala) c.628T>G (p.Ser210Ala) | |
12 | g.109808380A>G | CA386657152 | TRPV4 | c.475T>C (p.Ser159Pro) n.506T>C c.373T>C (p.Ser125Pro) c.628T>C (p.Ser210Pro) | |
12 | g.109808380A>T | CA386657153 | TRPV4 | c.475T>A (p.Ser159Thr) n.506T>A c.373T>A (p.Ser125Thr) c.628T>A (p.Ser210Thr) | |
12 | g.109808381C>A | CA481720299 | TRPV4 | c.474G>T (p.Val158=) n.505G>T c.372G>T (p.Val124=) c.627G>T (p.Val209=) | |
12 | g.109808381C>G | CA481720301 | TRPV4 | c.474G>C (p.Val158=) n.505G>C c.372G>C (p.Val124=) c.627G>C (p.Val209=) | |
12 | g.109808381C>T | CA481720302 | TRPV4 | c.474G>A (p.Val158=) n.505G>A c.372G>A (p.Val124=) c.627G>A (p.Val209=) | gnomAD v4 |
12 | g.109808382A>C | CA386657155 | TRPV4 | c.473T>G (p.Val158Gly) n.504T>G c.371T>G (p.Val124Gly) c.626T>G (p.Val209Gly) | |
12 | g.109808382A>G | CA386657156 | TRPV4 | c.473T>C (p.Val158Ala) n.504T>C c.371T>C (p.Val124Ala) c.626T>C (p.Val209Ala) | |
12 | g.109808382A>T | CA386657154 | TRPV4 | c.473T>A (p.Val158Glu) n.504T>A c.371T>A (p.Val124Glu) c.626T>A (p.Val209Glu) | gnomAD v4 |
12 | g.109808383C>A | CA386657157 | TRPV4 | c.472G>T (p.Val158Leu) n.503G>T c.370G>T (p.Val124Leu) c.625G>T (p.Val209Leu) | |
12 | g.109808383C= | CA2062582215 | TRPV4 | c.472G= (p.Val158=) n.503G= c.370G= (p.Val124=) c.625G= (p.Val209=) | |
12 | g.109808383C>G | CA386657158 | TRPV4 | c.472G>C (p.Val158Leu) n.503G>C c.370G>C (p.Val124Leu) c.625G>C (p.Val209Leu) | |
12 | g.109808383C>T | CA6780534 | TRPV4 | c.472G>A (p.Val158Met) n.503G>A c.370G>A (p.Val124Met) c.625G>A (p.Val209Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.109808384G>A | CA243474562 | TRPV4 | c.471C>T (p.Ile157=) n.502C>T c.369C>T (p.Ile123=) c.624C>T (p.Ile208=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109808384G>C | CA386657159 | TRPV4 | c.471C>G (p.Ile157Met) n.502C>G c.369C>G (p.Ile123Met) c.624C>G (p.Ile208Met) | |
12 | g.109808384G= | CA2062582221 | TRPV4 | c.471C= (p.Ile157=) n.502C= c.369C= (p.Ile123=) c.624C= (p.Ile208=) | |
12 | g.109808384G>T | CA481720304 | TRPV4 | c.471C>A (p.Ile157=) n.502C>A c.369C>A (p.Ile123=) c.624C>A (p.Ile208=) | |
12 | g.109808385A= | CA2062582224 | TRPV4 | c.470T= (p.Ile157=) n.501T= c.368T= (p.Ile123=) c.623T= (p.Ile208=) | |
12 | g.109808385A>C | CA386657160 | TRPV4 | c.470T>G (p.Ile157Ser) n.501T>G c.368T>G (p.Ile123Ser) c.623T>G (p.Ile208Ser) | |
12 | g.109808385A>G | CA6780535 | TRPV4 | c.470T>C (p.Ile157Thr) n.501T>C c.368T>C (p.Ile123Thr) c.623T>C (p.Ile208Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109808385A>T | CA386657161 | TRPV4 | c.470T>A (p.Ile157Asn) n.501T>A c.368T>A (p.Ile123Asn) c.623T>A (p.Ile208Asn) | dbSNP gnomAD v4 |
12 | g.109808386T>A | CA386657164 | TRPV4 | c.469A>T (p.Ile157Phe) n.500A>T c.367A>T (p.Ile123Phe) c.622A>T (p.Ile208Phe) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.109808386T>C | CA386657165 | TRPV4 | c.469A>G (p.Ile157Val) n.500A>G c.367A>G (p.Ile123Val) c.622A>G (p.Ile208Val) | ClinVar gnomAD v4 |
12 | g.109808386T>G | CA386657167 | TRPV4 | c.469A>C (p.Ile157Leu) n.500A>C c.367A>C (p.Ile123Leu) c.622A>C (p.Ile208Leu) | dbSNP |
12 | g.109808386T= | CA2062582228 | TRPV4 | c.469A= (p.Ile157=) n.500A= c.367A= (p.Ile123=) c.622A= (p.Ile208=) | |
12 | g.109808387G>A | CA481720306 | TRPV4 | c.468C>T (p.Asp156=) n.499C>T c.366C>T (p.Asp122=) c.621C>T (p.Asp207=) |