Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.109800601A= | CA2062574608 | TRPV4 | c.853+17T= (n.853+17T=) c.882+17T= (n.882+17T=) n.884+17T= c.751+17T= (n.751+17T=) c.713-1689T= (n.713-1689T=) c.1006+17T= (n.1006+17T=) c.866-1689T= (n.866-1689T=) | |
12 | g.109800601A>C | CA6780409 | TRPV4 | c.853+17T>G (n.853+17T>G) c.882+17T>G (n.882+17T>G) n.884+17T>G c.751+17T>G (n.751+17T>G) c.713-1689T>G (n.713-1689T>G) c.1006+17T>G (n.1006+17T>G) c.866-1689T>G (n.866-1689T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.109800602C>A | CA243468974 | TRPV4 | c.853+16G>T (n.853+16G>T) c.882+16G>T (n.882+16G>T) n.884+16G>T c.751+16G>T (n.751+16G>T) c.713-1690G>T (n.713-1690G>T) c.1006+16G>T (n.1006+16G>T) c.866-1690G>T (n.866-1690G>T) | dbSNP gnomAD v4 |
12 | g.109800602C= | CA2062574610 | TRPV4 | c.853+16G= (n.853+16G=) c.882+16G= (n.882+16G=) n.884+16G= c.751+16G= (n.751+16G=) c.713-1690G= (n.713-1690G=) c.1006+16G= (n.1006+16G=) c.866-1690G= (n.866-1690G=) | |
12 | g.109800602C>T | CA607298254 | TRPV4 | c.853+16G>A (n.853+16G>A) c.882+16G>A (n.882+16G>A) n.884+16G>A c.751+16G>A (n.751+16G>A) c.713-1690G>A (n.713-1690G>A) c.1006+16G>A (n.1006+16G>A) c.866-1690G>A (n.866-1690G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109800603C>G | CA2620823640 | TRPV4 | c.853+15G>C (n.853+15G>C) c.882+15G>C (n.882+15G>C) n.884+15G>C c.751+15G>C (n.751+15G>C) c.713-1691G>C (n.713-1691G>C) c.1006+15G>C (n.1006+15G>C) c.866-1691G>C (n.866-1691G>C) | gnomAD v4 |
12 | g.109800604A= | CA2062574612 | TRPV4 | c.853+14T= (n.853+14T=) c.882+14T= (n.882+14T=) n.884+14T= c.751+14T= (n.751+14T=) c.713-1692T= (n.713-1692T=) c.1006+14T= (n.1006+14T=) c.866-1692T= (n.866-1692T=) | |
12 | g.109800604A>G | CA607298255 | TRPV4 | c.853+14T>C (n.853+14T>C) c.882+14T>C (n.882+14T>C) n.884+14T>C c.751+14T>C (n.751+14T>C) c.713-1692T>C (n.713-1692T>C) c.1006+14T>C (n.1006+14T>C) c.866-1692T>C (n.866-1692T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109800604A>T | CA2620823646 | TRPV4 | c.853+14T>A (n.853+14T>A) c.882+14T>A (n.882+14T>A) n.884+14T>A c.751+14T>A (n.751+14T>A) c.713-1692T>A (n.713-1692T>A) c.1006+14T>A (n.1006+14T>A) c.866-1692T>A (n.866-1692T>A) | gnomAD v4 |
12 | g.109800605G>T | CA2575286527 | TRPV4 | c.853+13C>A (n.853+13C>A) c.882+13C>A (n.882+13C>A) n.884+13C>A c.751+13C>A (n.751+13C>A) c.713-1693C>A (n.713-1693C>A) c.1006+13C>A (n.1006+13C>A) c.866-1693C>A (n.866-1693C>A) | |
12 | g.109800606G>A | CA2575286528 | TRPV4 | c.853+12C>T (n.853+12C>T) c.882+12C>T (n.882+12C>T) n.884+12C>T c.751+12C>T (n.751+12C>T) c.713-1694C>T (n.713-1694C>T) c.1006+12C>T (n.1006+12C>T) c.866-1694C>T (n.866-1694C>T) | ClinVar gnomAD v4 |
12 | g.109800606G= | CA2062574615 | TRPV4 | c.853+12C= (n.853+12C=) c.882+12C= (n.882+12C=) n.884+12C= c.751+12C= (n.751+12C=) c.713-1694C= (n.713-1694C=) c.1006+12C= (n.1006+12C=) c.866-1694C= (n.866-1694C=) | |
12 | g.109800606G>T | CA6780410 | TRPV4 | c.853+12C>A (n.853+12C>A) c.882+12C>A (n.882+12C>A) n.884+12C>A c.751+12C>A (n.751+12C>A) c.713-1694C>A (n.713-1694C>A) c.1006+12C>A (n.1006+12C>A) c.866-1694C>A (n.866-1694C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.109800607C>A | CA6780411 | TRPV4 | c.853+11G>T (n.853+11G>T) c.882+11G>T (n.882+11G>T) n.884+11G>T c.751+11G>T (n.751+11G>T) c.713-1695G>T (n.713-1695G>T) c.1006+11G>T (n.1006+11G>T) c.866-1695G>T (n.866-1695G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.109800607C= | CA2062574618 | TRPV4 | c.853+11G= (n.853+11G=) c.882+11G= (n.882+11G=) n.884+11G= c.751+11G= (n.751+11G=) c.713-1695G= (n.713-1695G=) c.1006+11G= (n.1006+11G=) c.866-1695G= (n.866-1695G=) | |
12 | g.109800607C>G | CA607298256 | TRPV4 | c.853+11G>C (n.853+11G>C) c.882+11G>C (n.882+11G>C) n.884+11G>C c.751+11G>C (n.751+11G>C) c.713-1695G>C (n.713-1695G>C) c.1006+11G>C (n.1006+11G>C) c.866-1695G>C (n.866-1695G>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.109800607C>T | CA2797420683 | TRPV4 | c.853+11G>A (n.853+11G>A) c.882+11G>A (n.882+11G>A) n.884+11G>A c.751+11G>A (n.751+11G>A) c.713-1695G>A (n.713-1695G>A) c.1006+11G>A (n.1006+11G>A) c.866-1695G>A (n.866-1695G>A) | |
12 | g.109800608C>A | CA607298257 | TRPV4 | c.853+10G>T (n.853+10G>T) c.882+10G>T (n.882+10G>T) n.884+10G>T c.751+10G>T (n.751+10G>T) c.713-1696G>T (n.713-1696G>T) c.1006+10G>T (n.1006+10G>T) c.866-1696G>T (n.866-1696G>T) | dbSNP gnomAD v2 |
12 | g.109800608C= | CA2062574622 | TRPV4 | c.853+10G= (n.853+10G=) c.882+10G= (n.882+10G=) n.884+10G= c.751+10G= (n.751+10G=) c.713-1696G= (n.713-1696G=) c.1006+10G= (n.1006+10G=) c.866-1696G= (n.866-1696G=) | |
12 | g.109800608C>G | CA6780412 | TRPV4 | c.853+10G>C (n.853+10G>C) c.882+10G>C (n.882+10G>C) n.884+10G>C c.751+10G>C (n.751+10G>C) c.713-1696G>C (n.713-1696G>C) c.1006+10G>C (n.1006+10G>C) c.866-1696G>C (n.866-1696G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.109800609C>T | CA2532348515 | TRPV4 | c.853+9G>A (n.853+9G>A) c.882+9G>A (n.882+9G>A) n.884+9G>A c.751+9G>A (n.751+9G>A) c.713-1697G>A (n.713-1697G>A) c.1006+9G>A (n.1006+9G>A) c.866-1697G>A (n.866-1697G>A) | gnomAD v4 |
12 | g.109800613C>T | CA2620823656 | TRPV4 | c.853+5G>A (n.853+5G>A) c.882+5G>A (n.882+5G>A) n.884+5G>A c.751+5G>A (n.751+5G>A) c.713-1701G>A (n.713-1701G>A) c.1006+5G>A (n.1006+5G>A) c.866-1701G>A (n.866-1701G>A) | gnomAD v4 |
12 | g.109800615T>C | CA6780413 | TRPV4 | c.853+3A>G (n.853+3A>G) c.882+3A>G (n.882+3A>G) n.884+3A>G c.751+3A>G (n.751+3A>G) c.713-1703A>G (n.713-1703A>G) c.1006+3A>G (n.1006+3A>G) c.866-1703A>G (n.866-1703A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.109800615T= | CA2062574625 | TRPV4 | c.853+3A= (n.853+3A=) c.882+3A= (n.882+3A=) n.884+3A= c.751+3A= (n.751+3A=) c.713-1703A= (n.713-1703A=) c.1006+3A= (n.1006+3A=) c.866-1703A= (n.866-1703A=) | |
12 | g.109800616A>C | CA386655214 | TRPV4 | c.853+2T>G (n.853+2T>G) c.882+2T>G (n.882+2T>G) n.884+2T>G c.751+2T>G (n.751+2T>G) c.713-1704T>G (n.713-1704T>G) c.1006+2T>G (n.1006+2T>G) c.866-1704T>G (n.866-1704T>G) | |
12 | g.109800616A>G | CA386655215 | TRPV4 | c.853+2T>C (n.853+2T>C) c.882+2T>C (n.882+2T>C) n.884+2T>C c.751+2T>C (n.751+2T>C) c.713-1704T>C (n.713-1704T>C) c.1006+2T>C (n.1006+2T>C) c.866-1704T>C (n.866-1704T>C) | |
12 | g.109800616A>T | CA386655216 | TRPV4 | c.853+2T>A (n.853+2T>A) c.882+2T>A (n.882+2T>A) n.884+2T>A c.751+2T>A (n.751+2T>A) c.713-1704T>A (n.713-1704T>A) c.1006+2T>A (n.1006+2T>A) c.866-1704T>A (n.866-1704T>A) | |
12 | g.109800617C>A | CA386655217 | TRPV4 | c.853+1G>T (n.853+1G>T) c.882+1G>T (n.882+1G>T) n.884+1G>T c.751+1G>T (n.751+1G>T) c.713-1705G>T (n.713-1705G>T) c.1006+1G>T (n.1006+1G>T) c.866-1705G>T (n.866-1705G>T) | |
12 | g.109800617C>G | CA386655218 | TRPV4 | c.853+1G>C (n.853+1G>C) c.882+1G>C (n.882+1G>C) n.884+1G>C c.751+1G>C (n.751+1G>C) c.713-1705G>C (n.713-1705G>C) c.1006+1G>C (n.1006+1G>C) c.866-1705G>C (n.866-1705G>C) | |
12 | g.109800617C>T | CA386655219 | TRPV4 | c.853+1G>A (n.853+1G>A) c.882+1G>A (n.882+1G>A) n.884+1G>A c.751+1G>A (n.751+1G>A) c.713-1705G>A (n.713-1705G>A) c.1006+1G>A (n.1006+1G>A) c.866-1705G>A (n.866-1705G>A) | |
12 | g.109800618C>A | CA386655220 | TRPV4 | c.853G>T (p.Gly285Trp) c.882G>T (p.Leu294Phe) n.884G>T c.751G>T (p.Gly251Trp) c.713-1706G>T (n.713-1706G>T) c.1006G>T (p.Gly336Trp) c.866-1706G>T (n.866-1706G>T) | |
12 | g.109800618C>G | CA386655221 | TRPV4 | c.853G>C (p.Gly285Arg) c.882G>C (p.Leu294Phe) n.884G>C c.751G>C (p.Gly251Arg) c.713-1706G>C (n.713-1706G>C) c.1006G>C (p.Gly336Arg) c.866-1706G>C (n.866-1706G>C) | |
12 | g.109800618C>T | CA386655222 | TRPV4 | c.853G>A (p.Gly285Arg) c.882G>A (p.Leu294=) n.884G>A c.751G>A (p.Gly251Arg) c.713-1706G>A (n.713-1706G>A) c.1006G>A (p.Gly336Arg) c.866-1706G>A (n.866-1706G>A) | |
12 | g.109800619A= | CA2062574628 | TRPV4 | c.852T= (p.Phe284=) c.881T= (p.Leu294=) n.883T= c.750T= (p.Phe250=) c.713-1707T= (n.713-1707T=) c.1005T= (p.Phe335=) c.866-1707T= (n.866-1707T=) | |
12 | g.109800619A>C | CA386655223 | TRPV4 | c.852T>G (p.Phe284Leu) c.881T>G (p.Leu294Trp) n.883T>G c.750T>G (p.Phe250Leu) c.713-1707T>G (n.713-1707T>G) c.1005T>G (p.Phe335Leu) c.866-1707T>G (n.866-1707T>G) | |
12 | g.109800619A>G | CA6780414 | TRPV4 | c.852T>C (p.Phe284=) c.881T>C (p.Leu294Ser) n.883T>C c.750T>C (p.Phe250=) c.713-1707T>C (n.713-1707T>C) c.1005T>C (p.Phe335=) c.866-1707T>C (n.866-1707T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109800619A>T | CA386655224 | TRPV4 | c.852T>A (p.Phe284Leu) c.881T>A (p.Leu294Ter) n.883T>A c.750T>A (p.Phe250Leu) c.713-1707T>A (n.713-1707T>A) c.1005T>A (p.Phe335Leu) c.866-1707T>A (n.866-1707T>A) | |
12 | g.109800620A>C | CA386655227 | TRPV4 | c.851T>G (p.Phe284Cys) c.880T>G (p.Leu294Val) n.882T>G c.749T>G (p.Phe250Cys) c.713-1708T>G (n.713-1708T>G) c.1004T>G (p.Phe335Cys) c.866-1708T>G (n.866-1708T>G) | |
12 | g.109800620A>G | CA386655225 | TRPV4 | c.851T>C (p.Phe284Ser) c.880T>C (p.Leu294=) n.882T>C c.749T>C (p.Phe250Ser) c.713-1708T>C (n.713-1708T>C) c.1004T>C (p.Phe335Ser) c.866-1708T>C (n.866-1708T>C) | |
12 | g.109800620A>T | CA386655226 | TRPV4 | c.851T>A (p.Phe284Tyr) c.880T>A (p.Leu294Met) n.882T>A c.749T>A (p.Phe250Tyr) c.713-1708T>A (n.713-1708T>A) c.1004T>A (p.Phe335Tyr) c.866-1708T>A (n.866-1708T>A) | |
12 | g.109800621A>C | CA386655228 | TRPV4 | c.850T>G (p.Phe284Val) c.879T>G (p.Thr293=) n.881T>G c.748T>G (p.Phe250Val) c.713-1709T>G (n.713-1709T>G) c.1003T>G (p.Phe335Val) c.866-1709T>G (n.866-1709T>G) | |
12 | g.109800621A>G | CA386655229 | TRPV4 | c.850T>C (p.Phe284Leu) c.879T>C (p.Thr293=) n.881T>C c.748T>C (p.Phe250Leu) c.713-1709T>C (n.713-1709T>C) c.1003T>C (p.Phe335Leu) c.866-1709T>C (n.866-1709T>C) | |
12 | g.109800621A>T | CA386655230 | TRPV4 | c.850T>A (p.Phe284Ile) c.879T>A (p.Thr293=) n.881T>A c.748T>A (p.Phe250Ile) c.713-1709T>A (n.713-1709T>A) c.1003T>A (p.Phe335Ile) c.866-1709T>A (n.866-1709T>A) | |
12 | g.109800622G>A | CA6780415 | TRPV4 | c.849C>T (p.Tyr283=) c.878C>T (p.Thr293Ile) n.880C>T c.747C>T (p.Tyr249=) c.713-1710C>T (n.713-1710C>T) c.1002C>T (p.Tyr334=) c.866-1710C>T (n.866-1710C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109800622G>C | CA386655231 | TRPV4 | c.849C>G (p.Tyr283Ter) c.878C>G (p.Thr293Ser) n.880C>G c.747C>G (p.Tyr249Ter) c.713-1710C>G (n.713-1710C>G) c.1002C>G (p.Tyr334Ter) c.866-1710C>G (n.866-1710C>G) | |
12 | g.109800622G= | CA2062574634 | TRPV4 | c.849C= (p.Tyr283=) c.878C= (p.Thr293=) n.880C= c.747C= (p.Tyr249=) c.713-1710C= (n.713-1710C=) c.1002C= (p.Tyr334=) c.866-1710C= (n.866-1710C=) | |
12 | g.109800622G>T | CA386655232 | TRPV4 | c.849C>A (p.Tyr283Ter) c.878C>A (p.Thr293Asn) n.880C>A c.747C>A (p.Tyr249Ter) c.713-1710C>A (n.713-1710C>A) c.1002C>A (p.Tyr334Ter) c.866-1710C>A (n.866-1710C>A) | |
12 | g.109800623T>A | CA386655233 | TRPV4 | c.848A>T (p.Tyr283Phe) c.877A>T (p.Thr293Ser) n.879A>T c.746A>T (p.Tyr249Phe) c.713-1711A>T (n.713-1711A>T) c.1001A>T (p.Tyr334Phe) c.866-1711A>T (n.866-1711A>T) | |
12 | g.109800623T>C | CA386655234 | TRPV4 | c.848A>G (p.Tyr283Cys) c.877A>G (p.Thr293Ala) n.879A>G c.746A>G (p.Tyr249Cys) c.713-1711A>G (n.713-1711A>G) c.1001A>G (p.Tyr334Cys) c.866-1711A>G (n.866-1711A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109800623T>G | CA386655235 | TRPV4 | c.848A>C (p.Tyr283Ser) c.877A>C (p.Thr293Pro) n.879A>C c.746A>C (p.Tyr249Ser) c.713-1711A>C (n.713-1711A>C) c.1001A>C (p.Tyr334Ser) c.866-1711A>C (n.866-1711A>C) | |
12 | g.109800623T= | CA2062574637 | TRPV4 | c.848A= (p.Tyr283=) c.877A= (p.Thr293=) n.879A= c.746A= (p.Tyr249=) c.713-1711A= (n.713-1711A=) c.1001A= (p.Tyr334=) c.866-1711A= (n.866-1711A=) | |
12 | g.109800624A= | CA2062574639 | TRPV4 | c.847T= (p.Tyr283=) c.876T= (p.Ser292=) n.878T= c.745T= (p.Tyr249=) c.713-1712T= (n.713-1712T=) c.1000T= (p.Tyr334=) c.866-1712T= (n.866-1712T=) | |
12 | g.109800624A>C | CA386655236 | TRPV4 | c.847T>G (p.Tyr283Asp) c.876T>G (p.Ser292=) n.878T>G c.745T>G (p.Tyr249Asp) c.713-1712T>G (n.713-1712T>G) c.1000T>G (p.Tyr334Asp) c.866-1712T>G (n.866-1712T>G) | |
12 | g.109800624A>G | CA386655237 | TRPV4 | c.847T>C (p.Tyr283His) c.876T>C (p.Ser292=) n.878T>C c.745T>C (p.Tyr249His) c.713-1712T>C (n.713-1712T>C) c.1000T>C (p.Tyr334His) c.866-1712T>C (n.866-1712T>C) | ClinVar |
12 | g.109800624A>T | CA6780416 | TRPV4 | c.847T>A (p.Tyr283Asn) c.876T>A (p.Ser292=) n.878T>A c.745T>A (p.Tyr249Asn) c.713-1712T>A (n.713-1712T>A) c.1000T>A (p.Tyr334Asn) c.866-1712T>A (n.866-1712T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109800625G>A | CA481718940 | TRPV4 | c.846C>T (p.Phe282=) c.875C>T (p.Ser292Phe) n.877C>T c.744C>T (p.Phe248=) c.713-1713C>T (n.713-1713C>T) c.999C>T (p.Phe333=) c.866-1713C>T (n.866-1713C>T) | |
12 | g.109800625G>C | CA386655238 | TRPV4 | c.846C>G (p.Phe282Leu) c.875C>G (p.Ser292Cys) n.877C>G c.744C>G (p.Phe248Leu) c.713-1713C>G (n.713-1713C>G) c.999C>G (p.Phe333Leu) c.866-1713C>G (n.866-1713C>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.109800625G= | CA2062574643 | TRPV4 | c.846C= (p.Phe282=) c.875C= (p.Ser292=) n.877C= c.744C= (p.Phe248=) c.713-1713C= (n.713-1713C=) c.999C= (p.Phe333=) c.866-1713C= (n.866-1713C=) | |
12 | g.109800625G>T | CA386655239 | TRPV4 | c.846C>A (p.Phe282Leu) c.875C>A (p.Ser292Tyr) n.877C>A c.744C>A (p.Phe248Leu) c.713-1713C>A (n.713-1713C>A) c.999C>A (p.Phe333Leu) c.866-1713C>A (n.866-1713C>A) | |
12 | g.109800626A>C | CA386655240 | TRPV4 | c.845T>G (p.Phe282Cys) c.874T>G (p.Ser292Ala) n.876T>G c.743T>G (p.Phe248Cys) c.713-1714T>G (n.713-1714T>G) c.998T>G (p.Phe333Cys) c.866-1714T>G (n.866-1714T>G) | |
12 | g.109800626A>G | CA386655242 | TRPV4 | c.845T>C (p.Phe282Ser) c.874T>C (p.Ser292Pro) n.876T>C c.743T>C (p.Phe248Ser) c.713-1714T>C (n.713-1714T>C) c.998T>C (p.Phe333Ser) c.866-1714T>C (n.866-1714T>C) | |
12 | g.109800626A>T | CA386655241 | TRPV4 | c.845T>A (p.Phe282Tyr) c.874T>A (p.Ser292Thr) n.876T>A c.743T>A (p.Phe248Tyr) c.713-1714T>A (n.713-1714T>A) c.998T>A (p.Phe333Tyr) c.866-1714T>A (n.866-1714T>A) | |
12 | g.109800627dup | CA2580085804 | TRPV4 | c.845dup (p.Tyr283LeufsTer?) c.874dup (p.Ser292PhefsTer?) n.876dup c.743dup (p.Tyr249LeufsTer?) c.713-1714dup (n.713-1714dup) c.998dup (p.Tyr334LeufsTer?) c.866-1714dup (n.866-1714dup) | ClinVar |
12 | g.109800627A>C | CA386655243 | TRPV4 | c.844T>G (p.Phe282Val) c.873T>G (p.Thr291=) n.875T>G c.742T>G (p.Phe248Val) c.713-1715T>G (n.713-1715T>G) c.997T>G (p.Phe333Val) c.866-1715T>G (n.866-1715T>G) | gnomAD v4 |
12 | g.109800627A>G | CA386655244 | TRPV4 | c.844T>C (p.Phe282Leu) c.873T>C (p.Thr291=) n.875T>C c.742T>C (p.Phe248Leu) c.713-1715T>C (n.713-1715T>C) c.997T>C (p.Phe333Leu) c.866-1715T>C (n.866-1715T>C) | |
12 | g.109800627A>T | CA386655245 | TRPV4 | c.844T>A (p.Phe282Ile) c.873T>A (p.Thr291=) n.875T>A c.742T>A (p.Phe248Ile) c.713-1715T>A (n.713-1715T>A) c.997T>A (p.Phe333Ile) c.866-1715T>A (n.866-1715T>A) | |
12 | g.109800628G>A | CA481718946 | TRPV4 | c.843C>T (p.Tyr281=) c.872C>T (p.Thr291Ile) n.874C>T c.741C>T (p.Tyr247=) c.713-1716C>T (n.713-1716C>T) c.996C>T (p.Tyr332=) c.866-1716C>T (n.866-1716C>T) | gnomAD v4 |
12 | g.109800628G>C | CA386655246 | TRPV4 | c.843C>G (p.Tyr281Ter) c.872C>G (p.Thr291Ser) n.874C>G c.741C>G (p.Tyr247Ter) c.713-1716C>G (n.713-1716C>G) c.996C>G (p.Tyr332Ter) c.866-1716C>G (n.866-1716C>G) | |
12 | g.109800628G>T | CA386655247 | TRPV4 | c.843C>A (p.Tyr281Ter) c.872C>A (p.Thr291Asn) n.874C>A c.741C>A (p.Tyr247Ter) c.713-1716C>A (n.713-1716C>A) c.996C>A (p.Tyr332Ter) c.866-1716C>A (n.866-1716C>A) | |
12 | g.109800629T>A | CA386655248 | TRPV4 | c.842A>T (p.Tyr281Phe) c.871A>T (p.Thr291Ser) n.873A>T c.740A>T (p.Tyr247Phe) c.713-1717A>T (n.713-1717A>T) c.995A>T (p.Tyr332Phe) c.866-1717A>T (n.866-1717A>T) | |
12 | g.109800629T>C | CA386655249 | TRPV4 | c.842A>G (p.Tyr281Cys) c.871A>G (p.Thr291Ala) n.873A>G c.740A>G (p.Tyr247Cys) c.713-1717A>G (n.713-1717A>G) c.995A>G (p.Tyr332Cys) c.866-1717A>G (n.866-1717A>G) | COSMIC |
12 | g.109800629T>G | CA386655250 | TRPV4 | c.842A>C (p.Tyr281Ser) c.871A>C (p.Thr291Pro) n.873A>C c.740A>C (p.Tyr247Ser) c.713-1717A>C (n.713-1717A>C) c.995A>C (p.Tyr332Ser) c.866-1717A>C (n.866-1717A>C) | ClinVar dbSNP |
12 | g.109800629T= | CA2062574647 | TRPV4 | c.842A= (p.Tyr281=) c.871A= (p.Thr291=) n.873A= c.740A= (p.Tyr247=) c.713-1717A= (n.713-1717A=) c.995A= (p.Tyr332=) c.866-1717A= (n.866-1717A=) | |
12 | g.109800630A>C | CA386655251 | TRPV4 | c.841T>G (p.Tyr281Asp) c.870T>G (p.Ala290=) n.872T>G c.739T>G (p.Tyr247Asp) c.713-1718T>G (n.713-1718T>G) c.994T>G (p.Tyr332Asp) c.866-1718T>G (n.866-1718T>G) | |
12 | g.109800630A>G | CA386655252 | TRPV4 | c.841T>C (p.Tyr281His) c.870T>C (p.Ala290=) n.872T>C c.739T>C (p.Tyr247His) c.713-1718T>C (n.713-1718T>C) c.994T>C (p.Tyr332His) c.866-1718T>C (n.866-1718T>C) | |
12 | g.109800630A>T | CA386655253 | TRPV4 | c.841T>A (p.Tyr281Asn) c.870T>A (p.Ala290=) n.872T>A c.739T>A (p.Tyr247Asn) c.713-1718T>A (n.713-1718T>A) c.994T>A (p.Tyr332Asn) c.866-1718T>A (n.866-1718T>A) | |
12 | g.109800631G>A | CA481718953 | TRPV4 | c.840C>T (p.Gly280=) c.869C>T (p.Ala290Val) n.871C>T c.738C>T (p.Gly246=) c.713-1719C>T (n.713-1719C>T) c.993C>T (p.Gly331=) c.866-1719C>T (n.866-1719C>T) | |
12 | g.109800631G>C | CA481718957 | TRPV4 | c.840C>G (p.Gly280=) c.869C>G (p.Ala290Gly) n.871C>G c.738C>G (p.Gly246=) c.713-1719C>G (n.713-1719C>G) c.993C>G (p.Gly331=) c.866-1719C>G (n.866-1719C>G) | |
12 | g.109800631G>T | CA481718955 | TRPV4 | c.840C>A (p.Gly280=) c.869C>A (p.Ala290Asp) n.871C>A c.738C>A (p.Gly246=) c.713-1719C>A (n.713-1719C>A) c.993C>A (p.Gly331=) c.866-1719C>A (n.866-1719C>A) | |
12 | g.109800631_109800632delinsGC | CA2062574650 | TRPV4 | c.839_840delinsGC (p.Gly280=) c.868_869delinsGC (p.Ala290=) n.870_871delinsGC c.737_738delinsGC (p.Gly246=) c.713-1720_713-1719delinsGC (n.713-1720_713-1719delinsGC) c.992_993delinsGC (p.Gly331=) c.866-1720_866-1719delinsGC (n.866-1720_866-1719delinsGC) | |
12 | g.109800632C>A | CA386655256 | TRPV4 | c.839G>T (p.Gly280Val) c.868G>T (p.Ala290Ser) n.870G>T c.737G>T (p.Gly246Val) c.713-1720G>T (n.713-1720G>T) c.992G>T (p.Gly331Val) c.866-1720G>T (n.866-1720G>T) | |
12 | g.109800632C= | CA2062574653 | TRPV4 | c.839G= (p.Gly280=) c.868G= (p.Ala290=) n.870G= c.737G= (p.Gly246=) c.713-1720G= (n.713-1720G=) c.992G= (p.Gly331=) c.866-1720G= (n.866-1720G=) | |
12 | g.109800632C>G | CA386655255 | TRPV4 | c.839G>C (p.Gly280Ala) c.868G>C (p.Ala290Pro) n.870G>C c.737G>C (p.Gly246Ala) c.713-1720G>C (n.713-1720G>C) c.992G>C (p.Gly331Ala) c.866-1720G>C (n.866-1720G>C) | |
12 | g.109800632C>T | CA386655254 | TRPV4 | c.839G>A (p.Gly280Asp) c.868G>A (p.Ala290Thr) n.870G>A c.737G>A (p.Gly246Asp) c.713-1720G>A (n.713-1720G>A) c.992G>A (p.Gly331Asp) c.866-1720G>A (n.866-1720G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.109800637dup | CA2620823688 | TRPV4 | c.839dup (p.Tyr281LeufsTer?) c.868dup (p.Ala290GlyfsTer?) n.870dup c.737dup (p.Tyr247LeufsTer?) c.713-1720dup (n.713-1720dup) c.992dup (p.Tyr332LeufsTer?) c.866-1720dup (n.866-1720dup) | gnomAD v4 |
12 | g.109800637del | CA6780417 | TRPV4 | c.839del (p.Gly280AlafsTer25) c.868del (p.Ala290LeufsTer?) n.870del c.737del (p.Gly246AlafsTer25) c.713-1720del (n.713-1720del) c.992del (p.Gly331AlafsTer25) c.866-1720del (n.866-1720del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109800633C>A | CA386655257 | TRPV4 | c.838G>T (p.Gly280Cys) c.867G>T (p.Gly289=) n.869G>T c.736G>T (p.Gly246Cys) c.713-1721G>T (n.713-1721G>T) c.991G>T (p.Gly331Cys) c.866-1721G>T (n.866-1721G>T) | |
12 | g.109800633C= | CA2062574658 | TRPV4 | c.838G= (p.Gly280=) c.867G= (p.Gly289=) n.869G= c.736G= (p.Gly246=) c.713-1721G= (n.713-1721G=) c.991G= (p.Gly331=) c.866-1721G= (n.866-1721G=) | |
12 | g.109800633C>G | CA6780418 | TRPV4 | c.838G>C (p.Gly280Arg) c.867G>C (p.Gly289=) n.869G>C c.736G>C (p.Gly246Arg) c.713-1721G>C (n.713-1721G>C) c.991G>C (p.Gly331Arg) c.866-1721G>C (n.866-1721G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.109800633C>T | CA386655258 | TRPV4 | c.838G>A (p.Gly280Ser) c.867G>A (p.Gly289=) n.869G>A c.736G>A (p.Gly246Ser) c.713-1721G>A (n.713-1721G>A) c.991G>A (p.Gly331Ser) c.866-1721G>A (n.866-1721G>A) | ClinVar dbSNP |
12 | g.109800634C>A | CA481718961 | TRPV4 | c.837G>T (p.Gly279=) c.866G>T (p.Gly289Val) n.868G>T c.735G>T (p.Gly245=) c.713-1722G>T (n.713-1722G>T) c.990G>T (p.Gly330=) c.866-1722G>T (n.866-1722G>T) | |
12 | g.109800634C= | CA2062574660 | TRPV4 | c.837G= (p.Gly279=) c.866G= (p.Gly289=) n.868G= c.735G= (p.Gly245=) c.713-1722G= (n.713-1722G=) c.990G= (p.Gly330=) c.866-1722G= (n.866-1722G=) | |
12 | g.109800634C>G | CA481718962 | TRPV4 | c.837G>C (p.Gly279=) c.866G>C (p.Gly289Ala) n.868G>C c.735G>C (p.Gly245=) c.713-1722G>C (n.713-1722G>C) c.990G>C (p.Gly330=) c.866-1722G>C (n.866-1722G>C) | dbSNP |
12 | g.109800634C>T | CA481718963 | TRPV4 | c.837G>A (p.Gly279=) c.866G>A (p.Gly289Glu) n.868G>A c.735G>A (p.Gly245=) c.713-1722G>A (n.713-1722G>A) c.990G>A (p.Gly330=) c.866-1722G>A (n.866-1722G>A) | |
12 | g.109800635C>A | CA386655259 | TRPV4 | c.836G>T (p.Gly279Val) c.865G>T (p.Gly289Trp) n.867G>T c.734G>T (p.Gly245Val) c.713-1723G>T (n.713-1723G>T) c.989G>T (p.Gly330Val) c.866-1723G>T (n.866-1723G>T) | |
12 | g.109800635C= | CA2062574664 | TRPV4 | c.836G= (p.Gly279=) c.865G= (p.Gly289=) n.867G= c.734G= (p.Gly245=) c.713-1723G= (n.713-1723G=) c.989G= (p.Gly330=) c.866-1723G= (n.866-1723G=) | |
12 | g.109800635C>G | CA386655260 | TRPV4 | c.836G>C (p.Gly279Ala) c.865G>C (p.Gly289Arg) n.867G>C c.734G>C (p.Gly245Ala) c.713-1723G>C (n.713-1723G>C) c.989G>C (p.Gly330Ala) c.866-1723G>C (n.866-1723G>C) | dbSNP gnomAD v4 |
12 | g.109800635C>T | CA386655261 | TRPV4 | c.836G>A (p.Gly279Glu) c.865G>A (p.Gly289Arg) n.867G>A c.734G>A (p.Gly245Glu) c.713-1723G>A (n.713-1723G>A) c.989G>A (p.Gly330Glu) c.866-1723G>A (n.866-1723G>A) | |
12 | g.109800636C>A | CA386655262 | TRPV4 | c.835G>T (p.Gly279Trp) c.864G>T (p.Arg288Ser) n.866G>T c.733G>T (p.Gly245Trp) c.713-1724G>T (n.713-1724G>T) c.988G>T (p.Gly330Trp) c.866-1724G>T (n.866-1724G>T) | gnomAD v4 |
12 | g.109800636C= | CA2062574666 | TRPV4 | c.835G= (p.Gly279=) c.864G= (p.Arg288=) n.866G= c.733G= (p.Gly245=) c.713-1724G= (n.713-1724G=) c.988G= (p.Gly330=) c.866-1724G= (n.866-1724G=) | |
12 | g.109800636C>G | CA243469022 | TRPV4 | c.835G>C (p.Gly279Arg) c.864G>C (p.Arg288Ser) n.866G>C c.733G>C (p.Gly245Arg) c.713-1724G>C (n.713-1724G>C) c.988G>C (p.Gly330Arg) c.866-1724G>C (n.866-1724G>C) | dbSNP |
12 | g.109800636C>T | CA386655263 | TRPV4 | c.835G>A (p.Gly279Arg) c.864G>A (p.Arg288=) n.866G>A c.733G>A (p.Gly245Arg) c.713-1724G>A (n.713-1724G>A) c.988G>A (p.Gly330Arg) c.866-1724G>A (n.866-1724G>A) | |
12 | g.109800637C>A | CA386655265 | TRPV4 | c.834G>T (p.Glu278Asp) c.863G>T (p.Arg288Met) n.865G>T c.732G>T (p.Glu244Asp) c.713-1725G>T (n.713-1725G>T) c.987G>T (p.Glu329Asp) c.866-1725G>T (n.866-1725G>T) | ClinVar dbSNP |
12 | g.109800637C= | CA2062574673 | TRPV4 | c.834G= (p.Glu278=) c.863G= (p.Arg288=) n.865G= c.732G= (p.Glu244=) c.713-1725G= (n.713-1725G=) c.987G= (p.Glu329=) c.866-1725G= (n.866-1725G=) | |
12 | g.109800637C>G | CA386655264 | TRPV4 | c.834G>C (p.Glu278Asp) c.863G>C (p.Arg288Thr) n.865G>C c.732G>C (p.Glu244Asp) c.713-1725G>C (n.713-1725G>C) c.987G>C (p.Glu329Asp) c.866-1725G>C (n.866-1725G>C) | |
12 | g.109800637C>T | CA6780419 | TRPV4 | c.834G>A (p.Glu278=) c.863G>A (p.Arg288Lys) n.865G>A c.732G>A (p.Glu244=) c.713-1725G>A (n.713-1725G>A) c.987G>A (p.Glu329=) c.866-1725G>A (n.866-1725G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109800638T>A | CA386655266 | TRPV4 | c.833A>T (p.Glu278Val) c.862A>T (p.Arg288Trp) n.864A>T c.731A>T (p.Glu244Val) c.713-1726A>T (n.713-1726A>T) c.986A>T (p.Glu329Val) c.866-1726A>T (n.866-1726A>T) | |
12 | g.109800638T>C | CA386655267 | TRPV4 | c.833A>G (p.Glu278Gly) c.862A>G (p.Arg288Gly) n.864A>G c.731A>G (p.Glu244Gly) c.713-1726A>G (n.713-1726A>G) c.986A>G (p.Glu329Gly) c.866-1726A>G (n.866-1726A>G) | |
12 | g.109800638T>G | CA386655268 | TRPV4 | c.833A>C (p.Glu278Ala) c.862A>C (p.Arg288=) n.864A>C c.731A>C (p.Glu244Ala) c.713-1726A>C (n.713-1726A>C) c.986A>C (p.Glu329Ala) c.866-1726A>C (n.866-1726A>C) | |
12 | g.109800638dup | CA2062574679 | TRPV4 | c.833dup (p.Tyr281LeufsTer?) c.862dup (p.Arg288LysfsTer?) n.864dup c.731dup (p.Tyr247LeufsTer?) c.713-1726dup (n.713-1726dup) c.986dup (p.Tyr332LeufsTer?) c.866-1726dup (n.866-1726dup) | dbSNP |
12 | g.109800639C>A | CA386655269 | TRPV4 | c.832G>T (p.Glu278Ter) c.861G>T (p.Met287Ile) n.863G>T c.730G>T (p.Glu244Ter) c.713-1727G>T (n.713-1727G>T) c.985G>T (p.Glu329Ter) c.866-1727G>T (n.866-1727G>T) | |
12 | g.109800639C= | CA2062574683 | TRPV4 | c.832G= (p.Glu278=) c.861G= (p.Met287=) n.863G= c.730G= (p.Glu244=) c.713-1727G= (n.713-1727G=) c.985G= (p.Glu329=) c.866-1727G= (n.866-1727G=) | |
12 | g.109800639C>G | CA386655270 | TRPV4 | c.832G>C (p.Glu278Gln) c.861G>C (p.Met287Ile) n.863G>C c.730G>C (p.Glu244Gln) c.713-1727G>C (n.713-1727G>C) c.985G>C (p.Glu329Gln) c.866-1727G>C (n.866-1727G>C) | |
12 | g.109800639C>T | CA117193 | TRPV4 | c.832G>A (p.Glu278Lys) c.861G>A (p.Met287Ile) n.863G>A c.730G>A (p.Glu244Lys) c.713-1727G>A (n.713-1727G>A) c.985G>A (p.Glu329Lys) c.866-1727G>A (n.866-1727G>A) | ClinVar dbSNP |
12 | g.109800640A>C | CA386655271 | TRPV4 | c.831T>G (p.Asp277Glu) c.860T>G (p.Met287Arg) n.862T>G c.729T>G (p.Asp243Glu) c.713-1728T>G (n.713-1728T>G) c.984T>G (p.Asp328Glu) c.866-1728T>G (n.866-1728T>G) | |
12 | g.109800640A>G | CA481718976 | TRPV4 | c.831T>C (p.Asp277=) c.860T>C (p.Met287Thr) n.862T>C c.729T>C (p.Asp243=) c.713-1728T>C (n.713-1728T>C) c.984T>C (p.Asp328=) c.866-1728T>C (n.866-1728T>C) | |
12 | g.109800640A>T | CA386655272 | TRPV4 | c.831T>A (p.Asp277Glu) c.860T>A (p.Met287Lys) n.862T>A c.729T>A (p.Asp243Glu) c.713-1728T>A (n.713-1728T>A) c.984T>A (p.Asp328Glu) c.866-1728T>A (n.866-1728T>A) | |
12 | g.109800641T>A | CA386655273 | TRPV4 | c.830A>T (p.Asp277Val) c.859A>T (p.Met287Leu) n.861A>T c.728A>T (p.Asp243Val) c.713-1729A>T (n.713-1729A>T) c.983A>T (p.Asp328Val) c.866-1729A>T (n.866-1729A>T) | |
12 | g.109800641T>C | CA10584401 | TRPV4 | c.830A>G (p.Asp277Gly) c.859A>G (p.Met287Val) n.861A>G c.728A>G (p.Asp243Gly) c.713-1729A>G (n.713-1729A>G) c.983A>G (p.Asp328Gly) c.866-1729A>G (n.866-1729A>G) | ClinVar dbSNP gnomAD v4 |
12 | g.109800641T>G | CA386655274 | TRPV4 | c.830A>C (p.Asp277Ala) c.859A>C (p.Met287Leu) n.861A>C c.728A>C (p.Asp243Ala) c.713-1729A>C (n.713-1729A>C) c.983A>C (p.Asp328Ala) c.866-1729A>C (n.866-1729A>C) | |
12 | g.109800641T= | CA2062574688 | TRPV4 | c.830A= (p.Asp277=) c.859A= (p.Met287=) n.861A= c.728A= (p.Asp243=) c.713-1729A= (n.713-1729A=) c.983A= (p.Asp328=) c.866-1729A= (n.866-1729A=) | |
12 | g.109800642C>A | CA386655275 | TRPV4 | c.829G>T (p.Asp277Tyr) c.858G>T (p.Arg286Ser) n.860G>T c.727G>T (p.Asp243Tyr) c.713-1730G>T (n.713-1730G>T) c.982G>T (p.Asp328Tyr) c.866-1730G>T (n.866-1730G>T) | |
12 | g.109800642C= | CA2062574690 | TRPV4 | c.829G= (p.Asp277=) c.858G= (p.Arg286=) n.860G= c.727G= (p.Asp243=) c.713-1730G= (n.713-1730G=) c.982G= (p.Asp328=) c.866-1730G= (n.866-1730G=) | |
12 | g.109800642C>G | CA386655276 | TRPV4 | c.829G>C (p.Asp277His) c.858G>C (p.Arg286Ser) n.860G>C c.727G>C (p.Asp243His) c.713-1730G>C (n.713-1730G>C) c.982G>C (p.Asp328His) c.866-1730G>C (n.866-1730G>C) | |
12 | g.109800642C>T | CA386655277 | TRPV4 | c.829G>A (p.Asp277Asn) c.858G>A (p.Arg286=) n.860G>A c.727G>A (p.Asp243Asn) c.713-1730G>A (n.713-1730G>A) c.982G>A (p.Asp328Asn) c.866-1730G>A (n.866-1730G>A) | dbSNP |
12 | g.109800643C>A | CA386655278 | TRPV4 | c.828G>T (p.Lys276Asn) c.857G>T (p.Arg286Met) n.859G>T c.726G>T (p.Lys242Asn) c.713-1731G>T (n.713-1731G>T) c.981G>T (p.Lys327Asn) c.866-1731G>T (n.866-1731G>T) | |
12 | g.109800643C>G | CA386655279 | TRPV4 | c.828G>C (p.Lys276Asn) c.857G>C (p.Arg286Thr) n.859G>C c.726G>C (p.Lys242Asn) c.713-1731G>C (n.713-1731G>C) c.981G>C (p.Lys327Asn) c.866-1731G>C (n.866-1731G>C) | |
12 | g.109800643C>T | CA481718983 | TRPV4 | c.828G>A (p.Lys276=) c.857G>A (p.Arg286Lys) n.859G>A c.726G>A (p.Lys242=) c.713-1731G>A (n.713-1731G>A) c.981G>A (p.Lys327=) c.866-1731G>A (n.866-1731G>A) | |
12 | g.109800644T>A | CA386655280 | TRPV4 | c.827A>T (p.Lys276Met) c.856A>T (p.Arg286Trp) n.858A>T c.725A>T (p.Lys242Met) c.713-1732A>T (n.713-1732A>T) c.980A>T (p.Lys327Met) c.866-1732A>T (n.866-1732A>T) | |
12 | g.109800644T>C | CA386655281 | TRPV4 | c.827A>G (p.Lys276Arg) c.856A>G (p.Arg286Gly) n.858A>G c.725A>G (p.Lys242Arg) c.713-1732A>G (n.713-1732A>G) c.980A>G (p.Lys327Arg) c.866-1732A>G (n.866-1732A>G) | |
12 | g.109800644T>G | CA386655282 | TRPV4 | c.827A>C (p.Lys276Thr) c.856A>C (p.Arg286=) n.858A>C c.725A>C (p.Lys242Thr) c.713-1732A>C (n.713-1732A>C) c.980A>C (p.Lys327Thr) c.866-1732A>C (n.866-1732A>C) | ClinVar dbSNP |
12 | g.109800644T= | CA2062574693 | TRPV4 | c.827A= (p.Lys276=) c.856A= (p.Arg286=) n.858A= c.725A= (p.Lys242=) c.713-1732A= (n.713-1732A=) c.980A= (p.Lys327=) c.866-1732A= (n.866-1732A=) | |
12 | g.109800645T>A | CA386655283 | TRPV4 | c.826A>T (p.Lys276Ter) c.855A>T (p.Pro285=) n.857A>T c.724A>T (p.Lys242Ter) c.713-1733A>T (n.713-1733A>T) c.979A>T (p.Lys327Ter) c.866-1733A>T (n.866-1733A>T) | |
12 | g.109800645T>C | CA129254 | TRPV4 | c.826A>G (p.Lys276Glu) c.855A>G (p.Pro285=) n.857A>G c.724A>G (p.Lys242Glu) c.713-1733A>G (n.713-1733A>G) c.979A>G (p.Lys327Glu) c.866-1733A>G (n.866-1733A>G) | ClinVar dbSNP |
12 | g.109800645T>G | CA386655284 | TRPV4 | c.826A>C (p.Lys276Gln) c.855A>C (p.Pro285=) n.857A>C c.724A>C (p.Lys242Gln) c.713-1733A>C (n.713-1733A>C) c.979A>C (p.Lys327Gln) c.866-1733A>C (n.866-1733A>C) | ClinVar dbSNP |
12 | g.109800645T= | CA2062574701 | TRPV4 | c.826A= (p.Lys276=) c.855A= (p.Pro285=) n.857A= c.724A= (p.Lys242=) c.713-1733A= (n.713-1733A=) c.979A= (p.Lys327=) c.866-1733A= (n.866-1733A=) | |
12 | g.109800646G>A | CA481718991 | TRPV4 | c.825C>T (p.Pro275=) c.854C>T (p.Pro285Leu) n.856C>T c.723C>T (p.Pro241=) c.713-1734C>T (n.713-1734C>T) c.978C>T (p.Pro326=) c.866-1734C>T (n.866-1734C>T) | |
12 | g.109800646G>C | CA481718990 | TRPV4 | c.825C>G (p.Pro275=) c.854C>G (p.Pro285Arg) n.856C>G c.723C>G (p.Pro241=) c.713-1734C>G (n.713-1734C>G) c.978C>G (p.Pro326=) c.866-1734C>G (n.866-1734C>G) | |
12 | g.109800646G>T | CA481718988 | TRPV4 | c.825C>A (p.Pro275=) c.854C>A (p.Pro285Gln) n.856C>A c.723C>A (p.Pro241=) c.713-1734C>A (n.713-1734C>A) c.978C>A (p.Pro326=) c.866-1734C>A (n.866-1734C>A) | |
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.109800647G>A | CA386655285 | TRPV4 | c.824C>T (p.Pro275Leu) c.853C>T (p.Pro285Ser) n.855C>T c.722C>T (p.Pro241Leu) c.713-1735C>T (n.713-1735C>T) c.977C>T (p.Pro326Leu) c.866-1735C>T (n.866-1735C>T) | |
12 | g.109800647G>C | CA386655286 | TRPV4 | c.824C>G (p.Pro275Arg) c.853C>G (p.Pro285Ala) n.855C>G c.722C>G (p.Pro241Arg) c.713-1735C>G (n.713-1735C>G) c.977C>G (p.Pro326Arg) c.866-1735C>G (n.866-1735C>G) | |
12 | g.109800647G>T | CA386655287 | TRPV4 | c.824C>A (p.Pro275His) c.853C>A (p.Pro285Thr) n.855C>A c.722C>A (p.Pro241His) c.713-1735C>A (n.713-1735C>A) c.977C>A (p.Pro326His) c.866-1735C>A (n.866-1735C>A) | |
12 | g.109800648G>A | CA386655288 | TRPV4 | c.823C>T (p.Pro275Ser) c.852C>T (p.Ser284=) n.854C>T c.721C>T (p.Pro241Ser) c.713-1736C>T (n.713-1736C>T) c.976C>T (p.Pro326Ser) c.866-1736C>T (n.866-1736C>T) | |
12 | g.109800648G>C | CA243469045 | TRPV4 | c.823C>G (p.Pro275Ala) c.852C>G (p.Ser284Arg) n.854C>G c.721C>G (p.Pro241Ala) c.713-1736C>G (n.713-1736C>G) c.976C>G (p.Pro326Ala) c.866-1736C>G (n.866-1736C>G) | dbSNP |
12 | g.109800648G= | CA2062574704 | TRPV4 | c.823C= (p.Pro275=) c.852C= (p.Ser284=) n.854C= c.721C= (p.Pro241=) c.713-1736C= (n.713-1736C=) c.976C= (p.Pro326=) c.866-1736C= (n.866-1736C=) | |
12 | g.109800648G>T | CA386655289 | TRPV4 | c.823C>A (p.Pro275Thr) c.852C>A (p.Ser284Arg) n.854C>A c.721C>A (p.Pro241Thr) c.713-1736C>A (n.713-1736C>A) c.976C>A (p.Pro326Thr) c.866-1736C>A (n.866-1736C>A) | dbSNP |
12 | g.109800649C>A | CA386655290 | TRPV4 | c.822G>T (p.Gln274His) c.851G>T (p.Ser284Ile) n.853G>T c.720G>T (p.Gln240His) c.713-1737G>T (n.713-1737G>T) c.975G>T (p.Gln325His) c.866-1737G>T (n.866-1737G>T) | |
12 | g.109800649C= | CA2062574710 | TRPV4 | c.822G= (p.Gln274=) c.851G= (p.Ser284=) n.853G= c.720G= (p.Gln240=) c.713-1737G= (n.713-1737G=) c.975G= (p.Gln325=) c.866-1737G= (n.866-1737G=) | |
12 | g.109800649C>G | CA386655291 | TRPV4 | c.822G>C (p.Gln274His) c.851G>C (p.Ser284Thr) n.853G>C c.720G>C (p.Gln240His) c.713-1737G>C (n.713-1737G>C) c.975G>C (p.Gln325His) c.866-1737G>C (n.866-1737G>C) | |
12 | g.109800649C>T | CA6780420 | TRPV4 | c.822G>A (p.Gln274=) c.851G>A (p.Ser284Asn) n.853G>A c.720G>A (p.Gln240=) c.713-1737G>A (n.713-1737G>A) c.975G>A (p.Gln325=) c.866-1737G>A (n.866-1737G>A) | dbSNP ExAC gnomAD v4 |
12 | g.109800650T>A | CA386655293 | TRPV4 | c.821A>T (p.Gln274Leu) c.850A>T (p.Ser284Cys) n.852A>T c.719A>T (p.Gln240Leu) c.713-1738A>T (n.713-1738A>T) c.974A>T (p.Gln325Leu) c.866-1738A>T (n.866-1738A>T) | |
12 | g.109800650T>C | CA386655292 | TRPV4 | c.821A>G (p.Gln274Arg) c.850A>G (p.Ser284Gly) n.852A>G c.719A>G (p.Gln240Arg) c.713-1738A>G (n.713-1738A>G) c.974A>G (p.Gln325Arg) c.866-1738A>G (n.866-1738A>G) | |
12 | g.109800650T>G | CA386655294 | TRPV4 | c.821A>C (p.Gln274Pro) c.850A>C (p.Ser284Arg) n.852A>C c.719A>C (p.Gln240Pro) c.713-1738A>C (n.713-1738A>C) c.974A>C (p.Gln325Pro) c.866-1738A>C (n.866-1738A>C) | |
12 | g.109800651G>A | CA386655295 | TRPV4 | c.820C>T (p.Gln274Ter) c.849C>T (p.Ser283=) n.851C>T c.718C>T (p.Gln240Ter) c.713-1739C>T (n.713-1739C>T) c.973C>T (p.Gln325Ter) c.866-1739C>T (n.866-1739C>T) | ClinVar dbSNP |
12 | g.109800651G>C | CA386655296 | TRPV4 | c.820C>G (p.Gln274Glu) c.849C>G (p.Ser283=) n.851C>G c.718C>G (p.Gln240Glu) c.713-1739C>G (n.713-1739C>G) c.973C>G (p.Gln325Glu) c.866-1739C>G (n.866-1739C>G) | |
12 | g.109800651G= | CA2062574713 | TRPV4 | c.820C= (p.Gln274=) c.849C= (p.Ser283=) n.851C= c.718C= (p.Gln240=) c.713-1739C= (n.713-1739C=) c.973C= (p.Gln325=) c.866-1739C= (n.866-1739C=) | |
12 | g.109800651G>T | CA386655297 | TRPV4 | c.820C>A (p.Gln274Lys) c.849C>A (p.Ser283=) n.851C>A c.718C>A (p.Gln240Lys) c.713-1739C>A (n.713-1739C>A) c.973C>A (p.Gln325Lys) c.866-1739C>A (n.866-1739C>A) | |
12 | g.109800652G>A | CA481719000 | TRPV4 | c.819C>T (p.Phe273=) c.848C>T (p.Ser283Phe) n.850C>T c.717C>T (p.Phe239=) c.713-1740C>T (n.713-1740C>T) c.972C>T (p.Phe324=) c.866-1740C>T (n.866-1740C>T) | |
12 | g.109800652G>C | CA347706 | TRPV4 | c.819C>G (p.Phe273Leu) c.848C>G (p.Ser283Cys) n.850C>G c.717C>G (p.Phe239Leu) c.713-1740C>G (n.713-1740C>G) c.972C>G (p.Phe324Leu) c.866-1740C>G (n.866-1740C>G) | ClinVar dbSNP |
12 | g.109800652G= | CA2062574717 | TRPV4 | c.819C= (p.Phe273=) c.848C= (p.Ser283=) n.850C= c.717C= (p.Phe239=) c.713-1740C= (n.713-1740C=) c.972C= (p.Phe324=) c.866-1740C= (n.866-1740C=) | |
12 | g.109800652G>T | CA386655298 | TRPV4 | c.819C>A (p.Phe273Leu) c.848C>A (p.Ser283Tyr) n.850C>A c.717C>A (p.Phe239Leu) c.713-1740C>A (n.713-1740C>A) c.972C>A (p.Phe324Leu) c.866-1740C>A (n.866-1740C>A) | |
12 | g.109800653A>C | CA386655299 | TRPV4 | c.818T>G (p.Phe273Cys) c.847T>G (p.Ser283Ala) n.849T>G c.716T>G (p.Phe239Cys) c.713-1741T>G (n.713-1741T>G) c.971T>G (p.Phe324Cys) c.866-1741T>G (n.866-1741T>G) | |
12 | g.109800653A>G | CA386655300 | TRPV4 | c.818T>C (p.Phe273Ser) c.847T>C (p.Ser283Pro) n.849T>C c.716T>C (p.Phe239Ser) c.713-1741T>C (n.713-1741T>C) c.971T>C (p.Phe324Ser) c.866-1741T>C (n.866-1741T>C) | |
12 | g.109800653A>T | CA386655301 | TRPV4 | c.818T>A (p.Phe273Tyr) c.847T>A (p.Ser283Thr) n.849T>A c.716T>A (p.Phe239Tyr) c.713-1741T>A (n.713-1741T>A) c.971T>A (p.Phe324Tyr) c.866-1741T>A (n.866-1741T>A) | |
12 | g.109800654A>C | CA386655302 | TRPV4 | c.817T>G (p.Phe273Val) c.846T>G (p.Ser282=) n.848T>G c.715T>G (p.Phe239Val) c.713-1742T>G (n.713-1742T>G) c.970T>G (p.Phe324Val) c.866-1742T>G (n.866-1742T>G) | |
12 | g.109800654A>G | CA386655303 | TRPV4 | c.817T>C (p.Phe273Leu) c.846T>C (p.Ser282=) n.848T>C c.715T>C (p.Phe239Leu) c.713-1742T>C (n.713-1742T>C) c.970T>C (p.Phe324Leu) c.866-1742T>C (n.866-1742T>C) | |
12 | g.109800654A>T | CA386655304 | TRPV4 | c.817T>A (p.Phe273Ile) c.846T>A (p.Ser282=) n.848T>A c.715T>A (p.Phe239Ile) c.713-1742T>A (n.713-1742T>A) c.970T>A (p.Phe324Ile) c.866-1742T>A (n.866-1742T>A) | |
12 | g.109800655G>A | CA481719007 | TRPV4 | c.816C>T (p.Phe272=) c.845C>T (p.Ser282Phe) n.847C>T c.714C>T (p.Phe238=) c.713-1743C>T (n.713-1743C>T) c.969C>T (p.Phe323=) c.866-1743C>T (n.866-1743C>T) | |
12 | g.109800655G>C | CA386655305 | TRPV4 | c.816C>G (p.Phe272Leu) c.845C>G (p.Ser282Cys) n.847C>G c.714C>G (p.Phe238Leu) c.713-1743C>G (n.713-1743C>G) c.969C>G (p.Phe323Leu) c.866-1743C>G (n.866-1743C>G) | |
12 | g.109800655G>T | CA386655306 | TRPV4 | c.816C>A (p.Phe272Leu) c.845C>A (p.Ser282Tyr) n.847C>A c.714C>A (p.Phe238Leu) c.713-1743C>A (n.713-1743C>A) c.969C>A (p.Phe323Leu) c.866-1743C>A (n.866-1743C>A) | |
12 | g.109800656A>C | CA386655307 | TRPV4 | c.815T>G (p.Phe272Cys) c.844T>G (p.Ser282Ala) n.846T>G c.713T>G (p.Phe238Cys) c.713-1744T>G (n.713-1744T>G) c.968T>G (p.Phe323Cys) c.866-1744T>G (n.866-1744T>G) | |
12 | g.109800656A>G | CA386655309 | TRPV4 | c.815T>C (p.Phe272Ser) c.844T>C (p.Ser282Pro) n.846T>C c.713T>C (p.Phe238Ser) c.713-1744T>C (n.713-1744T>C) c.968T>C (p.Phe323Ser) c.866-1744T>C (n.866-1744T>C) | |
12 | g.109800656A>T | CA386655308 | TRPV4 | c.815T>A (p.Phe272Tyr) c.844T>A (p.Ser282Thr) n.846T>A c.713T>A (p.Phe238Tyr) c.713-1744T>A (n.713-1744T>A) c.968T>A (p.Phe323Tyr) c.866-1744T>A (n.866-1744T>A) | |
12 | g.109800657A>C | CA386655310 | TRPV4 | c.814T>G (p.Phe272Val) c.843T>G (p.Ala281=) n.845T>G c.712T>G (p.Phe238Val) c.713-1745T>G (n.713-1745T>G) c.967T>G (p.Phe323Val) c.866-1745T>G (n.866-1745T>G) | |
12 | g.109800657A>G | CA386655311 | TRPV4 | c.814T>C (p.Phe272Leu) c.843T>C (p.Ala281=) n.845T>C c.712T>C (p.Phe238Leu) c.713-1745T>C (n.713-1745T>C) c.967T>C (p.Phe323Leu) c.866-1745T>C (n.866-1745T>C) | |
12 | g.109800657A>T | CA386655312 | TRPV4 | c.814T>A (p.Phe272Ile) c.843T>A (p.Ala281=) n.845T>A c.712T>A (p.Phe238Ile) c.713-1745T>A (n.713-1745T>A) c.967T>A (p.Phe323Ile) c.866-1745T>A (n.866-1745T>A) | |
12 | g.109800658G>A | CA481719014 | TRPV4 | c.813C>T (p.Arg271=) c.842C>T (p.Ala281Val) n.844C>T c.711C>T (p.Arg237=) c.713-1746C>T (n.713-1746C>T) c.966C>T (p.Arg322=) c.866-1746C>T (n.866-1746C>T) | |
12 | g.109800658G>C | CA481719016 | TRPV4 | c.813C>G (p.Arg271=) c.842C>G (p.Ala281Gly) n.844C>G c.711C>G (p.Arg237=) c.713-1746C>G (n.713-1746C>G) c.966C>G (p.Arg322=) c.866-1746C>G (n.866-1746C>G) | |
12 | g.109800658G>T | CA481719017 | TRPV4 | c.813C>A (p.Arg271=) c.842C>A (p.Ala281Asp) n.844C>A c.711C>A (p.Arg237=) c.713-1746C>A (n.713-1746C>A) c.966C>A (p.Arg322=) c.866-1746C>A (n.866-1746C>A) | |
12 | g.109800659C>A | CA386655313 | TRPV4 | c.812G>T (p.Arg271Leu) c.841G>T (p.Ala281Ser) n.843G>T c.710G>T (p.Arg237Leu) c.713-1747G>T (n.713-1747G>T) c.965G>T (p.Arg322Leu) c.866-1747G>T (n.866-1747G>T) | |
12 | g.109800659C= | CA2062574730 | TRPV4 | c.812G= (p.Arg271=) c.841G= (p.Ala281=) n.843G= c.710G= (p.Arg237=) c.713-1747G= (n.713-1747G=) c.965G= (p.Arg322=) c.866-1747G= (n.866-1747G=) | |
12 | g.109800659C>G | CA342821 | TRPV4 | c.812G>C (p.Arg271Pro) c.841G>C (p.Ala281Pro) n.843G>C c.710G>C (p.Arg237Pro) c.713-1747G>C (n.713-1747G>C) c.965G>C (p.Arg322Pro) c.866-1747G>C (n.866-1747G>C) | ClinVar dbSNP |
12 | g.109800659C>T | CA6780421 | TRPV4 | c.812G>A (p.Arg271His) c.841G>A (p.Ala281Thr) n.843G>A c.710G>A (p.Arg237His) c.713-1747G>A (n.713-1747G>A) c.965G>A (p.Arg322His) c.866-1747G>A (n.866-1747G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109800660G>A | CA386655314 | TRPV4 | c.811C>T (p.Arg271Cys) c.840C>T (p.Gly280=) n.842C>T c.709C>T (p.Arg237Cys) c.713-1748C>T (n.713-1748C>T) c.964C>T (p.Arg322Cys) c.866-1748C>T (n.866-1748C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.109800660G>C | CA386655315 | TRPV4 | c.811C>G (p.Arg271Gly) c.840C>G (p.Gly280=) n.842C>G c.709C>G (p.Arg237Gly) c.713-1748C>G (n.713-1748C>G) c.964C>G (p.Arg322Gly) c.866-1748C>G (n.866-1748C>G) | |
12 | g.109800660G= | CA2062574734 | TRPV4 | c.811C= (p.Arg271=) c.840C= (p.Gly280=) n.842C= c.709C= (p.Arg237=) c.713-1748C= (n.713-1748C=) c.964C= (p.Arg322=) c.866-1748C= (n.866-1748C=) | |
12 | g.109800660G>T | CA386655316 | TRPV4 | c.811C>A (p.Arg271Ser) c.840C>A (p.Gly280=) n.842C>A c.709C>A (p.Arg237Ser) c.713-1748C>A (n.713-1748C>A) c.964C>A (p.Arg322Ser) c.866-1748C>A (n.866-1748C>A) | 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) |