| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71790313G>A | CA470061383 | CDH23 | c.5949G>A (p.Gly1983=) c.5964G>A (p.Gly1988=) c.6144G>A (p.Gly2048=) c.6078G>A (p.Gly2026=) c.6141G>A (p.Gly2047=) c.6138G>A (p.Gly2046=) c.6084G>A (p.Gly2028=) c.6009G>A (p.Gly2003=) c.5604G>A (p.Gly1868=) c.4962G>A (p.Gly1654=) c.2472G>A (p.Gly824=) n.6387G>A | |
| 10 | g.71790313G>C | CA470061384 | CDH23 | c.5949G>C (p.Gly1983=) c.5964G>C (p.Gly1988=) c.6144G>C (p.Gly2048=) c.6078G>C (p.Gly2026=) c.6141G>C (p.Gly2047=) c.6138G>C (p.Gly2046=) c.6084G>C (p.Gly2028=) c.6009G>C (p.Gly2003=) c.5604G>C (p.Gly1868=) c.4962G>C (p.Gly1654=) c.2472G>C (p.Gly824=) n.6387G>C | |
| 10 | g.71790313G>T | CA470061386 | CDH23 | c.5949G>T (p.Gly1983=) c.5964G>T (p.Gly1988=) c.6144G>T (p.Gly2048=) c.6078G>T (p.Gly2026=) c.6141G>T (p.Gly2047=) c.6138G>T (p.Gly2046=) c.6084G>T (p.Gly2028=) c.6009G>T (p.Gly2003=) c.5604G>T (p.Gly1868=) c.4962G>T (p.Gly1654=) c.2472G>T (p.Gly824=) n.6387G>T | |
| 10 | g.71790314C>A | CA377150512 | CDH23 | c.5950C>A (p.Pro1984Thr) c.5965C>A (p.Pro1989Thr) c.6145C>A (p.Pro2049Thr) c.6079C>A (p.Pro2027Thr) c.6142C>A (p.Pro2048Thr) c.6139C>A (p.Pro2047Thr) c.6085C>A (p.Pro2029Thr) c.6010C>A (p.Pro2004Thr) c.5605C>A (p.Pro1869Thr) c.4963C>A (p.Pro1655Thr) c.2473C>A (p.Pro825Thr) n.6388C>A | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71790314C= | CA1918870152 | CDH23 | c.5950C= (p.Pro1984=) c.5965C= (p.Pro1989=) c.6145C= (p.Pro2049=) c.6079C= (p.Pro2027=) c.6142C= (p.Pro2048=) c.6139C= (p.Pro2047=) c.6085C= (p.Pro2029=) c.6010C= (p.Pro2004=) c.5605C= (p.Pro1869=) c.4963C= (p.Pro1655=) c.2473C= (p.Pro825=) n.6388C= | |
| 10 | g.71790314C>G | CA377150516 | CDH23 | c.5950C>G (p.Pro1984Ala) c.5965C>G (p.Pro1989Ala) c.6145C>G (p.Pro2049Ala) c.6079C>G (p.Pro2027Ala) c.6142C>G (p.Pro2048Ala) c.6139C>G (p.Pro2047Ala) c.6085C>G (p.Pro2029Ala) c.6010C>G (p.Pro2004Ala) c.5605C>G (p.Pro1869Ala) c.4963C>G (p.Pro1655Ala) c.2473C>G (p.Pro825Ala) n.6388C>G | |
| 10 | g.71790314C>T | CA377150514 | CDH23 | c.5950C>T (p.Pro1984Ser) c.5965C>T (p.Pro1989Ser) c.6145C>T (p.Pro2049Ser) c.6079C>T (p.Pro2027Ser) c.6142C>T (p.Pro2048Ser) c.6139C>T (p.Pro2047Ser) c.6085C>T (p.Pro2029Ser) c.6010C>T (p.Pro2004Ser) c.5605C>T (p.Pro1869Ser) c.4963C>T (p.Pro1655Ser) c.2473C>T (p.Pro825Ser) n.6388C>T | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71790315C>A | CA377150519 | CDH23 | c.5951C>A (p.Pro1984His) c.5966C>A (p.Pro1989His) c.6146C>A (p.Pro2049His) c.6080C>A (p.Pro2027His) c.6143C>A (p.Pro2048His) c.6140C>A (p.Pro2047His) c.6086C>A (p.Pro2029His) c.6011C>A (p.Pro2004His) c.5606C>A (p.Pro1869His) c.4964C>A (p.Pro1655His) c.2474C>A (p.Pro825His) n.6389C>A | |
| 10 | g.71790315C= | CA1918870154 | CDH23 | c.5951C= (p.Pro1984=) c.5966C= (p.Pro1989=) c.6146C= (p.Pro2049=) c.6080C= (p.Pro2027=) c.6143C= (p.Pro2048=) c.6140C= (p.Pro2047=) c.6086C= (p.Pro2029=) c.6011C= (p.Pro2004=) c.5606C= (p.Pro1869=) c.4964C= (p.Pro1655=) c.2474C= (p.Pro825=) n.6389C= | |
| 10 | g.71790315C>G | CA5545948 | CDH23 | c.5951C>G (p.Pro1984Arg) c.5966C>G (p.Pro1989Arg) c.6146C>G (p.Pro2049Arg) c.6080C>G (p.Pro2027Arg) c.6143C>G (p.Pro2048Arg) c.6140C>G (p.Pro2047Arg) c.6086C>G (p.Pro2029Arg) c.6011C>G (p.Pro2004Arg) c.5606C>G (p.Pro1869Arg) c.4964C>G (p.Pro1655Arg) c.2474C>G (p.Pro825Arg) n.6389C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71790315C>T | CA377150522 | CDH23 | c.5951C>T (p.Pro1984Leu) c.5966C>T (p.Pro1989Leu) c.6146C>T (p.Pro2049Leu) c.6080C>T (p.Pro2027Leu) c.6143C>T (p.Pro2048Leu) c.6140C>T (p.Pro2047Leu) c.6086C>T (p.Pro2029Leu) c.6011C>T (p.Pro2004Leu) c.5606C>T (p.Pro1869Leu) c.4964C>T (p.Pro1655Leu) c.2474C>T (p.Pro825Leu) n.6389C>T | COSMIC |
| 10 | g.71790316C>A | CA470061387 | CDH23 | c.5952C>A (p.Pro1984=) c.5967C>A (p.Pro1989=) c.6147C>A (p.Pro2049=) c.6081C>A (p.Pro2027=) c.6144C>A (p.Pro2048=) c.6141C>A (p.Pro2047=) c.6087C>A (p.Pro2029=) c.6012C>A (p.Pro2004=) c.5607C>A (p.Pro1869=) c.4965C>A (p.Pro1655=) c.2475C>A (p.Pro825=) n.6390C>A | |
| 10 | g.71790316C= | CA1918870157 | CDH23 | c.5952C= (p.Pro1984=) c.5967C= (p.Pro1989=) c.6147C= (p.Pro2049=) c.6081C= (p.Pro2027=) c.6144C= (p.Pro2048=) c.6141C= (p.Pro2047=) c.6087C= (p.Pro2029=) c.6012C= (p.Pro2004=) c.5607C= (p.Pro1869=) c.4965C= (p.Pro1655=) c.2475C= (p.Pro825=) n.6390C= | |
| 10 | g.71790316C>G | CA470061388 | CDH23 | c.5952C>G (p.Pro1984=) c.5967C>G (p.Pro1989=) c.6147C>G (p.Pro2049=) c.6081C>G (p.Pro2027=) c.6144C>G (p.Pro2048=) c.6141C>G (p.Pro2047=) c.6087C>G (p.Pro2029=) c.6012C>G (p.Pro2004=) c.5607C>G (p.Pro1869=) c.4965C>G (p.Pro1655=) c.2475C>G (p.Pro825=) n.6390C>G | |
| 10 | g.71790316C>T | CA5545949 | CDH23 | c.5952C>T (p.Pro1984=) c.5967C>T (p.Pro1989=) c.6147C>T (p.Pro2049=) c.6081C>T (p.Pro2027=) c.6144C>T (p.Pro2048=) c.6141C>T (p.Pro2047=) c.6087C>T (p.Pro2029=) c.6012C>T (p.Pro2004=) c.5607C>T (p.Pro1869=) c.4965C>T (p.Pro1655=) c.2475C>T (p.Pro825=) n.6390C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71790317A>C | CA377150525 | CDH23 | c.5953A>C (p.Ile1985Leu) c.5968A>C (p.Ile1990Leu) c.6148A>C (p.Ile2050Leu) c.6082A>C (p.Ile2028Leu) c.6145A>C (p.Ile2049Leu) c.6142A>C (p.Ile2048Leu) c.6088A>C (p.Ile2030Leu) c.6013A>C (p.Ile2005Leu) c.5608A>C (p.Ile1870Leu) c.4966A>C (p.Ile1656Leu) c.2476A>C (p.Ile826Leu) n.6391A>C | |
| 10 | g.71790317A>G | CA377150527 | CDH23 | c.5953A>G (p.Ile1985Val) c.5968A>G (p.Ile1990Val) c.6148A>G (p.Ile2050Val) c.6082A>G (p.Ile2028Val) c.6145A>G (p.Ile2049Val) c.6142A>G (p.Ile2048Val) c.6088A>G (p.Ile2030Val) c.6013A>G (p.Ile2005Val) c.5608A>G (p.Ile1870Val) c.4966A>G (p.Ile1656Val) c.2476A>G (p.Ile826Val) n.6391A>G | |
| 10 | g.71790317A>T | CA377150532 | CDH23 | c.5953A>T (p.Ile1985Phe) c.5968A>T (p.Ile1990Phe) c.6148A>T (p.Ile2050Phe) c.6082A>T (p.Ile2028Phe) c.6145A>T (p.Ile2049Phe) c.6142A>T (p.Ile2048Phe) c.6088A>T (p.Ile2030Phe) c.6013A>T (p.Ile2005Phe) c.5608A>T (p.Ile1870Phe) c.4966A>T (p.Ile1656Phe) c.2476A>T (p.Ile826Phe) n.6391A>T | ClinVar dbSNP |
| 10 | g.71790318T>A | CA377150534 | CDH23 | c.5954T>A (p.Ile1985Asn) c.5969T>A (p.Ile1990Asn) c.6149T>A (p.Ile2050Asn) c.6083T>A (p.Ile2028Asn) c.6146T>A (p.Ile2049Asn) c.6143T>A (p.Ile2048Asn) c.6089T>A (p.Ile2030Asn) c.6014T>A (p.Ile2005Asn) c.5609T>A (p.Ile1870Asn) c.4967T>A (p.Ile1656Asn) c.2477T>A (p.Ile826Asn) n.6392T>A | |
| 10 | g.71790318T>C | CA377150545 | CDH23 | c.5954T>C (p.Ile1985Thr) c.5969T>C (p.Ile1990Thr) c.6149T>C (p.Ile2050Thr) c.6083T>C (p.Ile2028Thr) c.6146T>C (p.Ile2049Thr) c.6143T>C (p.Ile2048Thr) c.6089T>C (p.Ile2030Thr) c.6014T>C (p.Ile2005Thr) c.5609T>C (p.Ile1870Thr) c.4967T>C (p.Ile1656Thr) c.2477T>C (p.Ile826Thr) n.6392T>C | |
| 10 | g.71790318T>G | CA377150547 | CDH23 | c.5954T>G (p.Ile1985Ser) c.5969T>G (p.Ile1990Ser) c.6149T>G (p.Ile2050Ser) c.6083T>G (p.Ile2028Ser) c.6146T>G (p.Ile2049Ser) c.6143T>G (p.Ile2048Ser) c.6089T>G (p.Ile2030Ser) c.6014T>G (p.Ile2005Ser) c.5609T>G (p.Ile1870Ser) c.4967T>G (p.Ile1656Ser) c.2477T>G (p.Ile826Ser) n.6392T>G | |
| 10 | g.71790319C>A | CA470061390 | CDH23 | c.5955C>A (p.Ile1985=) c.5970C>A (p.Ile1990=) c.6150C>A (p.Ile2050=) c.6084C>A (p.Ile2028=) c.6147C>A (p.Ile2049=) c.6144C>A (p.Ile2048=) c.6090C>A (p.Ile2030=) c.6015C>A (p.Ile2005=) c.5610C>A (p.Ile1870=) c.4968C>A (p.Ile1656=) c.2478C>A (p.Ile826=) n.6393C>A | |
| 10 | g.71790319C>G | CA377150548 | CDH23 | c.5955C>G (p.Ile1985Met) c.5970C>G (p.Ile1990Met) c.6150C>G (p.Ile2050Met) c.6084C>G (p.Ile2028Met) c.6147C>G (p.Ile2049Met) c.6144C>G (p.Ile2048Met) c.6090C>G (p.Ile2030Met) c.6015C>G (p.Ile2005Met) c.5610C>G (p.Ile1870Met) c.4968C>G (p.Ile1656Met) c.2478C>G (p.Ile826Met) n.6393C>G | |
| 10 | g.71790319C>T | CA470061391 | CDH23 | c.5955C>T (p.Ile1985=) c.5970C>T (p.Ile1990=) c.6150C>T (p.Ile2050=) c.6084C>T (p.Ile2028=) c.6147C>T (p.Ile2049=) c.6144C>T (p.Ile2048=) c.6090C>T (p.Ile2030=) c.6015C>T (p.Ile2005=) c.5610C>T (p.Ile1870=) c.4968C>T (p.Ile1656=) c.2478C>T (p.Ile826=) n.6393C>T | gnomAD v4 |
| 10 | g.71790320C>A | CA377150550 | CDH23 | c.5956C>A (p.Leu1986Met) c.5971C>A (p.Leu1991Met) c.6151C>A (p.Leu2051Met) c.6085C>A (p.Leu2029Met) c.6148C>A (p.Leu2050Met) c.6145C>A (p.Leu2049Met) c.6091C>A (p.Leu2031Met) c.6016C>A (p.Leu2006Met) c.5611C>A (p.Leu1871Met) c.4969C>A (p.Leu1657Met) c.2479C>A (p.Leu827Met) n.6394C>A | |
| 10 | g.71790320C>G | CA377150551 | CDH23 | c.5956C>G (p.Leu1986Val) c.5971C>G (p.Leu1991Val) c.6151C>G (p.Leu2051Val) c.6085C>G (p.Leu2029Val) c.6148C>G (p.Leu2050Val) c.6145C>G (p.Leu2049Val) c.6091C>G (p.Leu2031Val) c.6016C>G (p.Leu2006Val) c.5611C>G (p.Leu1871Val) c.4969C>G (p.Leu1657Val) c.2479C>G (p.Leu827Val) n.6394C>G | |
| 10 | g.71790320C>T | CA470061392 | CDH23 | c.5956C>T (p.Leu1986=) c.5971C>T (p.Leu1991=) c.6151C>T (p.Leu2051=) c.6085C>T (p.Leu2029=) c.6148C>T (p.Leu2050=) c.6145C>T (p.Leu2049=) c.6091C>T (p.Leu2031=) c.6016C>T (p.Leu2006=) c.5611C>T (p.Leu1871=) c.4969C>T (p.Leu1657=) c.2479C>T (p.Leu827=) n.6394C>T | |
| 10 | g.71790321T>A | CA377150554 | CDH23 | c.5957T>A (p.Leu1986Gln) c.5972T>A (p.Leu1991Gln) c.6152T>A (p.Leu2051Gln) c.6086T>A (p.Leu2029Gln) c.6149T>A (p.Leu2050Gln) c.6146T>A (p.Leu2049Gln) c.6092T>A (p.Leu2031Gln) c.6017T>A (p.Leu2006Gln) c.5612T>A (p.Leu1871Gln) c.4970T>A (p.Leu1657Gln) c.2480T>A (p.Leu827Gln) n.6395T>A | |
| 10 | g.71790321T>C | CA377150555 | CDH23 | c.5957T>C (p.Leu1986Pro) c.5972T>C (p.Leu1991Pro) c.6152T>C (p.Leu2051Pro) c.6086T>C (p.Leu2029Pro) c.6149T>C (p.Leu2050Pro) c.6146T>C (p.Leu2049Pro) c.6092T>C (p.Leu2031Pro) c.6017T>C (p.Leu2006Pro) c.5612T>C (p.Leu1871Pro) c.4970T>C (p.Leu1657Pro) c.2480T>C (p.Leu827Pro) n.6395T>C | |
| 10 | g.71790321T>G | CA377150557 | CDH23 | c.5957T>G (p.Leu1986Arg) c.5972T>G (p.Leu1991Arg) c.6152T>G (p.Leu2051Arg) c.6086T>G (p.Leu2029Arg) c.6149T>G (p.Leu2050Arg) c.6146T>G (p.Leu2049Arg) c.6092T>G (p.Leu2031Arg) c.6017T>G (p.Leu2006Arg) c.5612T>G (p.Leu1871Arg) c.4970T>G (p.Leu1657Arg) c.2480T>G (p.Leu827Arg) n.6395T>G | |
| 10 | g.71790322G>A | CA470061393 | CDH23 | c.5958G>A (p.Leu1986=) c.5973G>A (p.Leu1991=) c.6153G>A (p.Leu2051=) c.6087G>A (p.Leu2029=) c.6150G>A (p.Leu2050=) c.6147G>A (p.Leu2049=) c.6093G>A (p.Leu2031=) c.6018G>A (p.Leu2006=) c.5613G>A (p.Leu1871=) c.4971G>A (p.Leu1657=) c.2481G>A (p.Leu827=) n.6396G>A | |
| 10 | g.71790322G>C | CA470061394 | CDH23 | c.5958G>C (p.Leu1986=) c.5973G>C (p.Leu1991=) c.6153G>C (p.Leu2051=) c.6087G>C (p.Leu2029=) c.6150G>C (p.Leu2050=) c.6147G>C (p.Leu2049=) c.6093G>C (p.Leu2031=) c.6018G>C (p.Leu2006=) c.5613G>C (p.Leu1871=) c.4971G>C (p.Leu1657=) c.2481G>C (p.Leu827=) n.6396G>C | dbSNP |
| 10 | g.71790322G>T | CA470061395 | CDH23 | c.5958G>T (p.Leu1986=) c.5973G>T (p.Leu1991=) c.6153G>T (p.Leu2051=) c.6087G>T (p.Leu2029=) c.6150G>T (p.Leu2050=) c.6147G>T (p.Leu2049=) c.6093G>T (p.Leu2031=) c.6018G>T (p.Leu2006=) c.5613G>T (p.Leu1871=) c.4971G>T (p.Leu1657=) c.2481G>T (p.Leu827=) n.6396G>T | |
| 10 | g.71790323G>A | CA377150560 | CDH23 | c.5959G>A (p.Ala1987Thr) c.5974G>A (p.Ala1992Thr) c.6154G>A (p.Ala2052Thr) c.6088G>A (p.Ala2030Thr) c.6151G>A (p.Ala2051Thr) c.6148G>A (p.Ala2050Thr) c.6094G>A (p.Ala2032Thr) c.6019G>A (p.Ala2007Thr) c.5614G>A (p.Ala1872Thr) c.4972G>A (p.Ala1658Thr) c.2482G>A (p.Ala828Thr) n.6397G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71790323G>C | CA377150562 | CDH23 | c.5959G>C (p.Ala1987Pro) c.5974G>C (p.Ala1992Pro) c.6154G>C (p.Ala2052Pro) c.6088G>C (p.Ala2030Pro) c.6151G>C (p.Ala2051Pro) c.6148G>C (p.Ala2050Pro) c.6094G>C (p.Ala2032Pro) c.6019G>C (p.Ala2007Pro) c.5614G>C (p.Ala1872Pro) c.4972G>C (p.Ala1658Pro) c.2482G>C (p.Ala828Pro) n.6397G>C | |
| 10 | g.71790323G= | CA1918870161 | CDH23 | c.5959G= (p.Ala1987=) c.5974G= (p.Ala1992=) c.6154G= (p.Ala2052=) c.6088G= (p.Ala2030=) c.6151G= (p.Ala2051=) c.6148G= (p.Ala2050=) c.6094G= (p.Ala2032=) c.6019G= (p.Ala2007=) c.5614G= (p.Ala1872=) c.4972G= (p.Ala1658=) c.2482G= (p.Ala828=) n.6397G= | |
| 10 | g.71790323G>T | CA377150564 | CDH23 | c.5959G>T (p.Ala1987Ser) c.5974G>T (p.Ala1992Ser) c.6154G>T (p.Ala2052Ser) c.6088G>T (p.Ala2030Ser) c.6151G>T (p.Ala2051Ser) c.6148G>T (p.Ala2050Ser) c.6094G>T (p.Ala2032Ser) c.6019G>T (p.Ala2007Ser) c.5614G>T (p.Ala1872Ser) c.4972G>T (p.Ala1658Ser) c.2482G>T (p.Ala828Ser) n.6397G>T | |
| 10 | g.71790324C>A | CA377150567 | CDH23 | c.5960C>A (p.Ala1987Asp) c.5975C>A (p.Ala1992Asp) c.6155C>A (p.Ala2052Asp) c.6089C>A (p.Ala2030Asp) c.6152C>A (p.Ala2051Asp) c.6149C>A (p.Ala2050Asp) c.6095C>A (p.Ala2032Asp) c.6020C>A (p.Ala2007Asp) c.5615C>A (p.Ala1872Asp) c.4973C>A (p.Ala1658Asp) c.2483C>A (p.Ala828Asp) n.6398C>A | |
| 10 | g.71790324C>G | CA377150570 | CDH23 | c.5960C>G (p.Ala1987Gly) c.5975C>G (p.Ala1992Gly) c.6155C>G (p.Ala2052Gly) c.6089C>G (p.Ala2030Gly) c.6152C>G (p.Ala2051Gly) c.6149C>G (p.Ala2050Gly) c.6095C>G (p.Ala2032Gly) c.6020C>G (p.Ala2007Gly) c.5615C>G (p.Ala1872Gly) c.4973C>G (p.Ala1658Gly) c.2483C>G (p.Ala828Gly) n.6398C>G | |
| 10 | g.71790324C>T | CA377150573 | CDH23 | c.5960C>T (p.Ala1987Val) c.5975C>T (p.Ala1992Val) c.6155C>T (p.Ala2052Val) c.6089C>T (p.Ala2030Val) c.6152C>T (p.Ala2051Val) c.6149C>T (p.Ala2050Val) c.6095C>T (p.Ala2032Val) c.6020C>T (p.Ala2007Val) c.5615C>T (p.Ala1872Val) c.4973C>T (p.Ala1658Val) c.2483C>T (p.Ala828Val) n.6398C>T | |
| 10 | g.71790325C>A | CA470061397 | CDH23 | c.5961C>A (p.Ala1987=) c.5976C>A (p.Ala1992=) c.6156C>A (p.Ala2052=) c.6090C>A (p.Ala2030=) c.6153C>A (p.Ala2051=) c.6150C>A (p.Ala2050=) c.6096C>A (p.Ala2032=) c.6021C>A (p.Ala2007=) c.5616C>A (p.Ala1872=) c.4974C>A (p.Ala1658=) c.2484C>A (p.Ala828=) n.6399C>A | |
| 10 | g.71790325C>G | CA470061398 | CDH23 | c.5961C>G (p.Ala1987=) c.5976C>G (p.Ala1992=) c.6156C>G (p.Ala2052=) c.6090C>G (p.Ala2030=) c.6153C>G (p.Ala2051=) c.6150C>G (p.Ala2050=) c.6096C>G (p.Ala2032=) c.6021C>G (p.Ala2007=) c.5616C>G (p.Ala1872=) c.4974C>G (p.Ala1658=) c.2484C>G (p.Ala828=) n.6399C>G | |
| 10 | g.71790325C>T | CA470061399 | CDH23 | c.5961C>T (p.Ala1987=) c.5976C>T (p.Ala1992=) c.6156C>T (p.Ala2052=) c.6090C>T (p.Ala2030=) c.6153C>T (p.Ala2051=) c.6150C>T (p.Ala2050=) c.6096C>T (p.Ala2032=) c.6021C>T (p.Ala2007=) c.5616C>T (p.Ala1872=) c.4974C>T (p.Ala1658=) c.2484C>T (p.Ala828=) n.6399C>T | |
| 10 | g.71790326C>A | CA377150575 | CDH23 | c.5962C>A (p.Leu1988Met) c.5977C>A (p.Leu1993Met) c.6157C>A (p.Leu2053Met) c.6091C>A (p.Leu2031Met) c.6154C>A (p.Leu2052Met) c.6151C>A (p.Leu2051Met) c.6097C>A (p.Leu2033Met) c.6022C>A (p.Leu2008Met) c.5617C>A (p.Leu1873Met) c.4975C>A (p.Leu1659Met) c.2485C>A (p.Leu829Met) n.6400C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71790326C= | CA1918870167 | CDH23 | c.5962C= (p.Leu1988=) c.5977C= (p.Leu1993=) c.6157C= (p.Leu2053=) c.6091C= (p.Leu2031=) c.6154C= (p.Leu2052=) c.6151C= (p.Leu2051=) c.6097C= (p.Leu2033=) c.6022C= (p.Leu2008=) c.5617C= (p.Leu1873=) c.4975C= (p.Leu1659=) c.2485C= (p.Leu829=) n.6400C= | |
| 10 | g.71790326C>G | CA377150578 | CDH23 | c.5962C>G (p.Leu1988Val) c.5977C>G (p.Leu1993Val) c.6157C>G (p.Leu2053Val) c.6091C>G (p.Leu2031Val) c.6154C>G (p.Leu2052Val) c.6151C>G (p.Leu2051Val) c.6097C>G (p.Leu2033Val) c.6022C>G (p.Leu2008Val) c.5617C>G (p.Leu1873Val) c.4975C>G (p.Leu1659Val) c.2485C>G (p.Leu829Val) n.6400C>G | |
| 10 | g.71790326C>T | CA470061400 | CDH23 | c.5962C>T (p.Leu1988=) c.5977C>T (p.Leu1993=) c.6157C>T (p.Leu2053=) c.6091C>T (p.Leu2031=) c.6154C>T (p.Leu2052=) c.6151C>T (p.Leu2051=) c.6097C>T (p.Leu2033=) c.6022C>T (p.Leu2008=) c.5617C>T (p.Leu1873=) c.4975C>T (p.Leu1659=) c.2485C>T (p.Leu829=) n.6400C>T | dbSNP |
| 10 | g.71790327T>A | CA377150583 | CDH23 | c.5963T>A (p.Leu1988Gln) c.5978T>A (p.Leu1993Gln) c.6158T>A (p.Leu2053Gln) c.6092T>A (p.Leu2031Gln) c.6155T>A (p.Leu2052Gln) c.6152T>A (p.Leu2051Gln) c.6098T>A (p.Leu2033Gln) c.6023T>A (p.Leu2008Gln) c.5618T>A (p.Leu1873Gln) c.4976T>A (p.Leu1659Gln) c.2486T>A (p.Leu829Gln) n.6401T>A | |
| 10 | g.71790327T>C | CA377150586 | CDH23 | c.5963T>C (p.Leu1988Pro) c.5978T>C (p.Leu1993Pro) c.6158T>C (p.Leu2053Pro) c.6092T>C (p.Leu2031Pro) c.6155T>C (p.Leu2052Pro) c.6152T>C (p.Leu2051Pro) c.6098T>C (p.Leu2033Pro) c.6023T>C (p.Leu2008Pro) c.5618T>C (p.Leu1873Pro) c.4976T>C (p.Leu1659Pro) c.2486T>C (p.Leu829Pro) n.6401T>C | |
| 10 | g.71790327T>G | CA377150589 | CDH23 | c.5963T>G (p.Leu1988Arg) c.5978T>G (p.Leu1993Arg) c.6158T>G (p.Leu2053Arg) c.6092T>G (p.Leu2031Arg) c.6155T>G (p.Leu2052Arg) c.6152T>G (p.Leu2051Arg) c.6098T>G (p.Leu2033Arg) c.6023T>G (p.Leu2008Arg) c.5618T>G (p.Leu1873Arg) c.4976T>G (p.Leu1659Arg) c.2486T>G (p.Leu829Arg) n.6401T>G | dbSNP |