Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71806190T>A | CA377162323 | CDH23 | c.8087T>A (p.Leu2696Gln) c.2020T>A (n.2020T>A) c.1684T>A (n.1684T>A) c.8102T>A (p.Leu2701Gln) c.1367T>A (p.Leu456Gln) n.1623T>A c.8282T>A (p.Leu2761Gln) c.8216T>A (p.Leu2739Gln) c.8279T>A (p.Leu2760Gln) c.8276T>A (p.Leu2759Gln) c.8222T>A (p.Leu2741Gln) c.8192T>A (p.Leu2731Gln) c.8147T>A (p.Leu2716Gln) c.7742T>A (p.Leu2581Gln) c.7100T>A (p.Leu2367Gln) c.4610T>A (p.Leu1537Gln) | gnomAD v4 |
10 | g.71806190T>C | CA377162324 | CDH23 | c.8087T>C (p.Leu2696Pro) c.2020T>C (n.2020T>C) c.1684T>C (n.1684T>C) c.8102T>C (p.Leu2701Pro) c.1367T>C (p.Leu456Pro) n.1623T>C c.8282T>C (p.Leu2761Pro) c.8216T>C (p.Leu2739Pro) c.8279T>C (p.Leu2760Pro) c.8276T>C (p.Leu2759Pro) c.8222T>C (p.Leu2741Pro) c.8192T>C (p.Leu2731Pro) c.8147T>C (p.Leu2716Pro) c.7742T>C (p.Leu2581Pro) c.7100T>C (p.Leu2367Pro) c.4610T>C (p.Leu1537Pro) | gnomAD v4 |
10 | g.71806190T>G | CA377162325 | CDH23 | c.8087T>G (p.Leu2696Arg) c.2020T>G (n.2020T>G) c.1684T>G (n.1684T>G) c.8102T>G (p.Leu2701Arg) c.1367T>G (p.Leu456Arg) n.1623T>G c.8282T>G (p.Leu2761Arg) c.8216T>G (p.Leu2739Arg) c.8279T>G (p.Leu2760Arg) c.8276T>G (p.Leu2759Arg) c.8222T>G (p.Leu2741Arg) c.8192T>G (p.Leu2731Arg) c.8147T>G (p.Leu2716Arg) c.7742T>G (p.Leu2581Arg) c.7100T>G (p.Leu2367Arg) c.4610T>G (p.Leu1537Arg) | gnomAD v4 |
10 | g.71806191G>A | CA5546545 | CDH23 | c.8088G>A (p.Leu2696=) c.2021G>A (n.2021G>A) c.1685G>A (n.1685G>A) c.8103G>A (p.Leu2701=) c.1368G>A (p.Leu456=) n.1624G>A c.8283G>A (p.Leu2761=) c.8217G>A (p.Leu2739=) c.8280G>A (p.Leu2760=) c.8277G>A (p.Leu2759=) c.8223G>A (p.Leu2741=) c.8193G>A (p.Leu2731=) c.8148G>A (p.Leu2716=) c.7743G>A (p.Leu2581=) c.7101G>A (p.Leu2367=) c.4611G>A (p.Leu1537=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806191G>C | CA470282189 | CDH23 | c.8088G>C (p.Leu2696=) c.2021G>C (n.2021G>C) c.1685G>C (n.1685G>C) c.8103G>C (p.Leu2701=) c.1368G>C (p.Leu456=) n.1624G>C c.8283G>C (p.Leu2761=) c.8217G>C (p.Leu2739=) c.8280G>C (p.Leu2760=) c.8277G>C (p.Leu2759=) c.8223G>C (p.Leu2741=) c.8193G>C (p.Leu2731=) c.8148G>C (p.Leu2716=) c.7743G>C (p.Leu2581=) c.7101G>C (p.Leu2367=) c.4611G>C (p.Leu1537=) | |
10 | g.71806191G= | CA1918884952 | CDH23 | c.8088G= (p.Leu2696=) c.2021G= (n.2021G=) c.1685G= (n.1685G=) c.8103G= (p.Leu2701=) c.1368G= (p.Leu456=) n.1624G= c.8283G= (p.Leu2761=) c.8217G= (p.Leu2739=) c.8280G= (p.Leu2760=) c.8277G= (p.Leu2759=) c.8223G= (p.Leu2741=) c.8193G= (p.Leu2731=) c.8148G= (p.Leu2716=) c.7743G= (p.Leu2581=) c.7101G= (p.Leu2367=) c.4611G= (p.Leu1537=) | |
10 | g.71806191G>T | CA470282190 | CDH23 | c.8088G>T (p.Leu2696=) c.2021G>T (n.2021G>T) c.1685G>T (n.1685G>T) c.8103G>T (p.Leu2701=) c.1368G>T (p.Leu456=) n.1624G>T c.8283G>T (p.Leu2761=) c.8217G>T (p.Leu2739=) c.8280G>T (p.Leu2760=) c.8277G>T (p.Leu2759=) c.8223G>T (p.Leu2741=) c.8193G>T (p.Leu2731=) c.8148G>T (p.Leu2716=) c.7743G>T (p.Leu2581=) c.7101G>T (p.Leu2367=) c.4611G>T (p.Leu1537=) | gnomAD v4 |
10 | g.71806192G>A | CA377162326 | CDH23 | c.8089G>A (p.Gly2697Ser) c.2022G>A (n.2022G>A) c.1686G>A (n.1686G>A) c.8104G>A (p.Gly2702Ser) c.1369G>A (p.Gly457Ser) n.1625G>A c.8284G>A (p.Gly2762Ser) c.8218G>A (p.Gly2740Ser) c.8281G>A (p.Gly2761Ser) c.8278G>A (p.Gly2760Ser) c.8224G>A (p.Gly2742Ser) c.8194G>A (p.Gly2732Ser) c.8149G>A (p.Gly2717Ser) c.7744G>A (p.Gly2582Ser) c.7102G>A (p.Gly2368Ser) c.4612G>A (p.Gly1538Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806192G>C | CA377162327 | CDH23 | c.8089G>C (p.Gly2697Arg) c.2022G>C (n.2022G>C) c.1686G>C (n.1686G>C) c.8104G>C (p.Gly2702Arg) c.1369G>C (p.Gly457Arg) n.1625G>C c.8284G>C (p.Gly2762Arg) c.8218G>C (p.Gly2740Arg) c.8281G>C (p.Gly2761Arg) c.8278G>C (p.Gly2760Arg) c.8224G>C (p.Gly2742Arg) c.8194G>C (p.Gly2732Arg) c.8149G>C (p.Gly2717Arg) c.7744G>C (p.Gly2582Arg) c.7102G>C (p.Gly2368Arg) c.4612G>C (p.Gly1538Arg) | |
10 | g.71806192G= | CA1918884956 | CDH23 | c.8089G= (p.Gly2697=) c.2022G= (n.2022G=) c.1686G= (n.1686G=) c.8104G= (p.Gly2702=) c.1369G= (p.Gly457=) n.1625G= c.8284G= (p.Gly2762=) c.8218G= (p.Gly2740=) c.8281G= (p.Gly2761=) c.8278G= (p.Gly2760=) c.8224G= (p.Gly2742=) c.8194G= (p.Gly2732=) c.8149G= (p.Gly2717=) c.7744G= (p.Gly2582=) c.7102G= (p.Gly2368=) c.4612G= (p.Gly1538=) | |
10 | g.71806192G>T | CA377162328 | CDH23 | c.8089G>T (p.Gly2697Cys) c.2022G>T (n.2022G>T) c.1686G>T (n.1686G>T) c.8104G>T (p.Gly2702Cys) c.1369G>T (p.Gly457Cys) n.1625G>T c.8284G>T (p.Gly2762Cys) c.8218G>T (p.Gly2740Cys) c.8281G>T (p.Gly2761Cys) c.8278G>T (p.Gly2760Cys) c.8224G>T (p.Gly2742Cys) c.8194G>T (p.Gly2732Cys) c.8149G>T (p.Gly2717Cys) c.7744G>T (p.Gly2582Cys) c.7102G>T (p.Gly2368Cys) c.4612G>T (p.Gly1538Cys) | gnomAD v4 |
10 | g.71806193G>A | CA377162330 | CDH23 | c.8090G>A (p.Gly2697Asp) c.2023G>A (n.2023G>A) c.1687G>A (n.1687G>A) c.8105G>A (p.Gly2702Asp) c.1370G>A (p.Gly457Asp) n.1626G>A c.8285G>A (p.Gly2762Asp) c.8219G>A (p.Gly2740Asp) c.8282G>A (p.Gly2761Asp) c.8279G>A (p.Gly2760Asp) c.8225G>A (p.Gly2742Asp) c.8195G>A (p.Gly2732Asp) c.8150G>A (p.Gly2717Asp) c.7745G>A (p.Gly2582Asp) c.7103G>A (p.Gly2368Asp) c.4613G>A (p.Gly1538Asp) | dbSNP gnomAD v4 |
10 | g.71806193G>C | CA5546546 | CDH23 | c.8090G>C (p.Gly2697Ala) c.2023G>C (n.2023G>C) c.1687G>C (n.1687G>C) c.8105G>C (p.Gly2702Ala) c.1370G>C (p.Gly457Ala) n.1626G>C c.8285G>C (p.Gly2762Ala) c.8219G>C (p.Gly2740Ala) c.8282G>C (p.Gly2761Ala) c.8279G>C (p.Gly2760Ala) c.8225G>C (p.Gly2742Ala) c.8195G>C (p.Gly2732Ala) c.8150G>C (p.Gly2717Ala) c.7745G>C (p.Gly2582Ala) c.7103G>C (p.Gly2368Ala) c.4613G>C (p.Gly1538Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.71806193G= | CA1918884961 | CDH23 | c.8090G= (p.Gly2697=) c.2023G= (n.2023G=) c.1687G= (n.1687G=) c.8105G= (p.Gly2702=) c.1370G= (p.Gly457=) n.1626G= c.8285G= (p.Gly2762=) c.8219G= (p.Gly2740=) c.8282G= (p.Gly2761=) c.8279G= (p.Gly2760=) c.8225G= (p.Gly2742=) c.8195G= (p.Gly2732=) c.8150G= (p.Gly2717=) c.7745G= (p.Gly2582=) c.7103G= (p.Gly2368=) c.4613G= (p.Gly1538=) | |
10 | g.71806193G>T | CA377162329 | CDH23 | c.8090G>T (p.Gly2697Val) c.2023G>T (n.2023G>T) c.1687G>T (n.1687G>T) c.8105G>T (p.Gly2702Val) c.1370G>T (p.Gly457Val) n.1626G>T c.8285G>T (p.Gly2762Val) c.8219G>T (p.Gly2740Val) c.8282G>T (p.Gly2761Val) c.8279G>T (p.Gly2760Val) c.8225G>T (p.Gly2742Val) c.8195G>T (p.Gly2732Val) c.8150G>T (p.Gly2717Val) c.7745G>T (p.Gly2582Val) c.7103G>T (p.Gly2368Val) c.4613G>T (p.Gly1538Val) | gnomAD v4 |
10 | g.71806193_71806198dup | CA2573145279 | CDH23 | c.8090_8095dup (p.Gln2698_Pro2699insArgGln) c.2023_2028dup (n.2023_2028dup) c.1687_1692dup (n.1687_1692dup) c.8105_8110dup (p.Gln2703_Pro2704insArgGln) c.1370_1375dup (p.Gln458_Pro459insArgGln) n.1626_1631dup c.8285_8290dup (p.Gln2763_Pro2764insArgGln) c.8219_8224dup (p.Gln2741_Pro2742insArgGln) c.8282_8287dup (p.Gln2762_Pro2763insArgGln) c.8279_8284dup (p.Gln2761_Pro2762insArgGln) c.8225_8230dup (p.Gln2743_Pro2744insArgGln) c.8195_8200dup (p.Gln2733_Pro2734insArgGln) c.8150_8155dup (p.Gln2718_Pro2719insArgGln) c.7745_7750dup (p.Gln2583_Pro2584insArgGln) c.7103_7108dup (p.Gln2369_Pro2370insArgGln) c.4613_4618dup (p.Gln1539_Pro1540insArgGln) | ClinVar dbSNP |
10 | g.71806194C>A | CA470282194 | CDH23 | c.8091C>A (p.Gly2697=) c.2024C>A (n.2024C>A) c.1688C>A (n.1688C>A) c.8106C>A (p.Gly2702=) c.1371C>A (p.Gly457=) n.1627C>A c.8286C>A (p.Gly2762=) c.8220C>A (p.Gly2740=) c.8283C>A (p.Gly2761=) c.8280C>A (p.Gly2760=) c.8226C>A (p.Gly2742=) c.8196C>A (p.Gly2732=) c.8151C>A (p.Gly2717=) c.7746C>A (p.Gly2582=) c.7104C>A (p.Gly2368=) c.4614C>A (p.Gly1538=) | gnomAD v4 |
10 | g.71806194C= | CA1918884964 | CDH23 | c.8091C= (p.Gly2697=) c.2024C= (n.2024C=) c.1688C= (n.1688C=) c.8106C= (p.Gly2702=) c.1371C= (p.Gly457=) n.1627C= c.8286C= (p.Gly2762=) c.8220C= (p.Gly2740=) c.8283C= (p.Gly2761=) c.8280C= (p.Gly2760=) c.8226C= (p.Gly2742=) c.8196C= (p.Gly2732=) c.8151C= (p.Gly2717=) c.7746C= (p.Gly2582=) c.7104C= (p.Gly2368=) c.4614C= (p.Gly1538=) | |
10 | g.71806194C>G | CA470282195 | CDH23 | c.8091C>G (p.Gly2697=) c.2024C>G (n.2024C>G) c.1688C>G (n.1688C>G) c.8106C>G (p.Gly2702=) c.1371C>G (p.Gly457=) n.1627C>G c.8286C>G (p.Gly2762=) c.8220C>G (p.Gly2740=) c.8283C>G (p.Gly2761=) c.8280C>G (p.Gly2760=) c.8226C>G (p.Gly2742=) c.8196C>G (p.Gly2732=) c.8151C>G (p.Gly2717=) c.7746C>G (p.Gly2582=) c.7104C>G (p.Gly2368=) c.4614C>G (p.Gly1538=) | |
10 | g.71806194C>T | CA470282197 | CDH23 | c.8091C>T (p.Gly2697=) c.2024C>T (n.2024C>T) c.1688C>T (n.1688C>T) c.8106C>T (p.Gly2702=) c.1371C>T (p.Gly457=) n.1627C>T c.8286C>T (p.Gly2762=) c.8220C>T (p.Gly2740=) c.8283C>T (p.Gly2761=) c.8280C>T (p.Gly2760=) c.8226C>T (p.Gly2742=) c.8196C>T (p.Gly2732=) c.8151C>T (p.Gly2717=) c.7746C>T (p.Gly2582=) c.7104C>T (p.Gly2368=) c.4614C>T (p.Gly1538=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806195C>A | CA377162331 | CDH23 | c.8092C>A (p.Gln2698Lys) c.2025C>A (n.2025C>A) c.1689C>A (n.1689C>A) c.8107C>A (p.Gln2703Lys) c.1372C>A (p.Gln458Lys) n.1628C>A c.8287C>A (p.Gln2763Lys) c.8221C>A (p.Gln2741Lys) c.8284C>A (p.Gln2762Lys) c.8281C>A (p.Gln2761Lys) c.8227C>A (p.Gln2743Lys) c.8197C>A (p.Gln2733Lys) c.8152C>A (p.Gln2718Lys) c.7747C>A (p.Gln2583Lys) c.7105C>A (p.Gln2369Lys) c.4615C>A (p.Gln1539Lys) | gnomAD v4 |
10 | g.71806195C>G | CA377162333 | CDH23 | c.8092C>G (p.Gln2698Glu) c.2025C>G (n.2025C>G) c.1689C>G (n.1689C>G) c.8107C>G (p.Gln2703Glu) c.1372C>G (p.Gln458Glu) n.1628C>G c.8287C>G (p.Gln2763Glu) c.8221C>G (p.Gln2741Glu) c.8284C>G (p.Gln2762Glu) c.8281C>G (p.Gln2761Glu) c.8227C>G (p.Gln2743Glu) c.8197C>G (p.Gln2733Glu) c.8152C>G (p.Gln2718Glu) c.7747C>G (p.Gln2583Glu) c.7105C>G (p.Gln2369Glu) c.4615C>G (p.Gln1539Glu) | |
10 | g.71806195C>T | CA377162332 | CDH23 | c.8092C>T (p.Gln2698Ter) c.2025C>T (n.2025C>T) c.1689C>T (n.1689C>T) c.8107C>T (p.Gln2703Ter) c.1372C>T (p.Gln458Ter) n.1628C>T c.8287C>T (p.Gln2763Ter) c.8221C>T (p.Gln2741Ter) c.8284C>T (p.Gln2762Ter) c.8281C>T (p.Gln2761Ter) c.8227C>T (p.Gln2743Ter) c.8197C>T (p.Gln2733Ter) c.8152C>T (p.Gln2718Ter) c.7747C>T (p.Gln2583Ter) c.7105C>T (p.Gln2369Ter) c.4615C>T (p.Gln1539Ter) | gnomAD v4 |
10 | g.71806196A>C | CA377162334 | CDH23 | c.8093A>C (p.Gln2698Pro) c.2026A>C (n.2026A>C) c.1690A>C (n.1690A>C) c.8108A>C (p.Gln2703Pro) c.1373A>C (p.Gln458Pro) n.1629A>C c.8288A>C (p.Gln2763Pro) c.8222A>C (p.Gln2741Pro) c.8285A>C (p.Gln2762Pro) c.8282A>C (p.Gln2761Pro) c.8228A>C (p.Gln2743Pro) c.8198A>C (p.Gln2733Pro) c.8153A>C (p.Gln2718Pro) c.7748A>C (p.Gln2583Pro) c.7106A>C (p.Gln2369Pro) c.4616A>C (p.Gln1539Pro) | |
10 | g.71806196A>G | CA377162336 | CDH23 | c.8093A>G (p.Gln2698Arg) c.2026A>G (n.2026A>G) c.1690A>G (n.1690A>G) c.8108A>G (p.Gln2703Arg) c.1373A>G (p.Gln458Arg) n.1629A>G c.8288A>G (p.Gln2763Arg) c.8222A>G (p.Gln2741Arg) c.8285A>G (p.Gln2762Arg) c.8282A>G (p.Gln2761Arg) c.8228A>G (p.Gln2743Arg) c.8198A>G (p.Gln2733Arg) c.8153A>G (p.Gln2718Arg) c.7748A>G (p.Gln2583Arg) c.7106A>G (p.Gln2369Arg) c.4616A>G (p.Gln1539Arg) | |
10 | g.71806196A>T | CA377162335 | CDH23 | c.8093A>T (p.Gln2698Leu) c.2026A>T (n.2026A>T) c.1690A>T (n.1690A>T) c.8108A>T (p.Gln2703Leu) c.1373A>T (p.Gln458Leu) n.1629A>T c.8288A>T (p.Gln2763Leu) c.8222A>T (p.Gln2741Leu) c.8285A>T (p.Gln2762Leu) c.8282A>T (p.Gln2761Leu) c.8228A>T (p.Gln2743Leu) c.8198A>T (p.Gln2733Leu) c.8153A>T (p.Gln2718Leu) c.7748A>T (p.Gln2583Leu) c.7106A>T (p.Gln2369Leu) c.4616A>T (p.Gln1539Leu) | |
10 | g.71806197G>A | CA470282200 | CDH23 | c.8094G>A (p.Gln2698=) c.2027G>A (n.2027G>A) c.1691G>A (n.1691G>A) c.8109G>A (p.Gln2703=) c.1374G>A (p.Gln458=) n.1630G>A c.8289G>A (p.Gln2763=) c.8223G>A (p.Gln2741=) c.8286G>A (p.Gln2762=) c.8283G>A (p.Gln2761=) c.8229G>A (p.Gln2743=) c.8199G>A (p.Gln2733=) c.8154G>A (p.Gln2718=) c.7749G>A (p.Gln2583=) c.7107G>A (p.Gln2369=) c.4617G>A (p.Gln1539=) | gnomAD v4 |
10 | g.71806197G>C | CA377162337 | CDH23 | c.8094G>C (p.Gln2698His) c.2027G>C (n.2027G>C) c.1691G>C (n.1691G>C) c.8109G>C (p.Gln2703His) c.1374G>C (p.Gln458His) n.1630G>C c.8289G>C (p.Gln2763His) c.8223G>C (p.Gln2741His) c.8286G>C (p.Gln2762His) c.8283G>C (p.Gln2761His) c.8229G>C (p.Gln2743His) c.8199G>C (p.Gln2733His) c.8154G>C (p.Gln2718His) c.7749G>C (p.Gln2583His) c.7107G>C (p.Gln2369His) c.4617G>C (p.Gln1539His) | |
10 | g.71806197G>T | CA377162338 | CDH23 | c.8094G>T (p.Gln2698His) c.2027G>T (n.2027G>T) c.1691G>T (n.1691G>T) c.8109G>T (p.Gln2703His) c.1374G>T (p.Gln458His) n.1630G>T c.8289G>T (p.Gln2763His) c.8223G>T (p.Gln2741His) c.8286G>T (p.Gln2762His) c.8283G>T (p.Gln2761His) c.8229G>T (p.Gln2743His) c.8199G>T (p.Gln2733His) c.8154G>T (p.Gln2718His) c.7749G>T (p.Gln2583His) c.7107G>T (p.Gln2369His) c.4617G>T (p.Gln1539His) | gnomAD v4 |
10 | g.71806198C>A | CA377162339 | CDH23 | c.8095C>A (p.Pro2699Thr) c.2028C>A (n.2028C>A) c.1692C>A (n.1692C>A) c.8110C>A (p.Pro2704Thr) c.1375C>A (p.Pro459Thr) n.1631C>A c.8290C>A (p.Pro2764Thr) c.8224C>A (p.Pro2742Thr) c.8287C>A (p.Pro2763Thr) c.8284C>A (p.Pro2762Thr) c.8230C>A (p.Pro2744Thr) c.8200C>A (p.Pro2734Thr) c.8155C>A (p.Pro2719Thr) c.7750C>A (p.Pro2584Thr) c.7108C>A (p.Pro2370Thr) c.4618C>A (p.Pro1540Thr) | gnomAD v4 |
10 | g.71806198C= | CA1918884967 | CDH23 | c.8095C= (p.Pro2699=) c.2028C= (n.2028C=) c.1692C= (n.1692C=) c.8110C= (p.Pro2704=) c.1375C= (p.Pro459=) n.1631C= c.8290C= (p.Pro2764=) c.8224C= (p.Pro2742=) c.8287C= (p.Pro2763=) c.8284C= (p.Pro2762=) c.8230C= (p.Pro2744=) c.8200C= (p.Pro2734=) c.8155C= (p.Pro2719=) c.7750C= (p.Pro2584=) c.7108C= (p.Pro2370=) c.4618C= (p.Pro1540=) | |
10 | g.71806198C>G | CA377162340 | CDH23 | c.8095C>G (p.Pro2699Ala) c.2028C>G (n.2028C>G) c.1692C>G (n.1692C>G) c.8110C>G (p.Pro2704Ala) c.1375C>G (p.Pro459Ala) n.1631C>G c.8290C>G (p.Pro2764Ala) c.8224C>G (p.Pro2742Ala) c.8287C>G (p.Pro2763Ala) c.8284C>G (p.Pro2762Ala) c.8230C>G (p.Pro2744Ala) c.8200C>G (p.Pro2734Ala) c.8155C>G (p.Pro2719Ala) c.7750C>G (p.Pro2584Ala) c.7108C>G (p.Pro2370Ala) c.4618C>G (p.Pro1540Ala) | |
10 | g.71806198C>T | CA209474393 | CDH23 | c.8095C>T (p.Pro2699Ser) c.2028C>T (n.2028C>T) c.1692C>T (n.1692C>T) c.8110C>T (p.Pro2704Ser) c.1375C>T (p.Pro459Ser) n.1631C>T c.8290C>T (p.Pro2764Ser) c.8224C>T (p.Pro2742Ser) c.8287C>T (p.Pro2763Ser) c.8284C>T (p.Pro2762Ser) c.8230C>T (p.Pro2744Ser) c.8200C>T (p.Pro2734Ser) c.8155C>T (p.Pro2719Ser) c.7750C>T (p.Pro2584Ser) c.7108C>T (p.Pro2370Ser) c.4618C>T (p.Pro1540Ser) | dbSNP gnomAD v4 |
10 | g.71806199C>A | CA377162341 | CDH23 | c.8096C>A (p.Pro2699Gln) c.2029C>A (n.2029C>A) c.1693C>A (n.1693C>A) c.8111C>A (p.Pro2704Gln) c.1376C>A (p.Pro459Gln) n.1632C>A c.8291C>A (p.Pro2764Gln) c.8225C>A (p.Pro2742Gln) c.8288C>A (p.Pro2763Gln) c.8285C>A (p.Pro2762Gln) c.8231C>A (p.Pro2744Gln) c.8201C>A (p.Pro2734Gln) c.8156C>A (p.Pro2719Gln) c.7751C>A (p.Pro2584Gln) c.7109C>A (p.Pro2370Gln) c.4619C>A (p.Pro1540Gln) | gnomAD v4 |
10 | g.71806199C>G | CA377162342 | CDH23 | c.8096C>G (p.Pro2699Arg) c.2029C>G (n.2029C>G) c.1693C>G (n.1693C>G) c.8111C>G (p.Pro2704Arg) c.1376C>G (p.Pro459Arg) n.1632C>G c.8291C>G (p.Pro2764Arg) c.8225C>G (p.Pro2742Arg) c.8288C>G (p.Pro2763Arg) c.8285C>G (p.Pro2762Arg) c.8231C>G (p.Pro2744Arg) c.8201C>G (p.Pro2734Arg) c.8156C>G (p.Pro2719Arg) c.7751C>G (p.Pro2584Arg) c.7109C>G (p.Pro2370Arg) c.4619C>G (p.Pro1540Arg) | gnomAD v4 |
10 | g.71806199C>T | CA377162343 | CDH23 | c.8096C>T (p.Pro2699Leu) c.2029C>T (n.2029C>T) c.1693C>T (n.1693C>T) c.8111C>T (p.Pro2704Leu) c.1376C>T (p.Pro459Leu) n.1632C>T c.8291C>T (p.Pro2764Leu) c.8225C>T (p.Pro2742Leu) c.8288C>T (p.Pro2763Leu) c.8285C>T (p.Pro2762Leu) c.8231C>T (p.Pro2744Leu) c.8201C>T (p.Pro2734Leu) c.8156C>T (p.Pro2719Leu) c.7751C>T (p.Pro2584Leu) c.7109C>T (p.Pro2370Leu) c.4619C>T (p.Pro1540Leu) | gnomAD v4 |
10 | g.71806200A>C | CA470282203 | CDH23 | c.8097A>C (p.Pro2699=) c.2030A>C (n.2030A>C) c.1694A>C (n.1694A>C) c.8112A>C (p.Pro2704=) c.1377A>C (p.Pro459=) n.1633A>C c.8292A>C (p.Pro2764=) c.8226A>C (p.Pro2742=) c.8289A>C (p.Pro2763=) c.8286A>C (p.Pro2762=) c.8232A>C (p.Pro2744=) c.8202A>C (p.Pro2734=) c.8157A>C (p.Pro2719=) c.7752A>C (p.Pro2584=) c.7110A>C (p.Pro2370=) c.4620A>C (p.Pro1540=) | |
10 | g.71806200A>G | CA470282205 | CDH23 | c.8097A>G (p.Pro2699=) c.2030A>G (n.2030A>G) c.1694A>G (n.1694A>G) c.8112A>G (p.Pro2704=) c.1377A>G (p.Pro459=) n.1633A>G c.8292A>G (p.Pro2764=) c.8226A>G (p.Pro2742=) c.8289A>G (p.Pro2763=) c.8286A>G (p.Pro2762=) c.8232A>G (p.Pro2744=) c.8202A>G (p.Pro2734=) c.8157A>G (p.Pro2719=) c.7752A>G (p.Pro2584=) c.7110A>G (p.Pro2370=) c.4620A>G (p.Pro1540=) | gnomAD v4 |
10 | g.71806200A>T | CA470282204 | CDH23 | c.8097A>T (p.Pro2699=) c.2030A>T (n.2030A>T) c.1694A>T (n.1694A>T) c.8112A>T (p.Pro2704=) c.1377A>T (p.Pro459=) n.1633A>T c.8292A>T (p.Pro2764=) c.8226A>T (p.Pro2742=) c.8289A>T (p.Pro2763=) c.8286A>T (p.Pro2762=) c.8232A>T (p.Pro2744=) c.8202A>T (p.Pro2734=) c.8157A>T (p.Pro2719=) c.7752A>T (p.Pro2584=) c.7110A>T (p.Pro2370=) c.4620A>T (p.Pro1540=) | gnomAD v4 |
10 | g.71806201G>A | CA377162344 | CDH23 | c.8098G>A (p.Val2700Met) c.2031G>A (n.2031G>A) c.1695G>A (n.1695G>A) c.8113G>A (p.Val2705Met) c.1378G>A (p.Val460Met) n.1634G>A c.8293G>A (p.Val2765Met) c.8227G>A (p.Val2743Met) c.8290G>A (p.Val2764Met) c.8287G>A (p.Val2763Met) c.8233G>A (p.Val2745Met) c.8203G>A (p.Val2735Met) c.8158G>A (p.Val2720Met) c.7753G>A (p.Val2585Met) c.7111G>A (p.Val2371Met) c.4621G>A (p.Val1541Met) | gnomAD v4 |
10 | g.71806201G>C | CA377162345 | CDH23 | c.8098G>C (p.Val2700Leu) c.2031G>C (n.2031G>C) c.1695G>C (n.1695G>C) c.8113G>C (p.Val2705Leu) c.1378G>C (p.Val460Leu) n.1634G>C c.8293G>C (p.Val2765Leu) c.8227G>C (p.Val2743Leu) c.8290G>C (p.Val2764Leu) c.8287G>C (p.Val2763Leu) c.8233G>C (p.Val2745Leu) c.8203G>C (p.Val2735Leu) c.8158G>C (p.Val2720Leu) c.7753G>C (p.Val2585Leu) c.7111G>C (p.Val2371Leu) c.4621G>C (p.Val1541Leu) | |
10 | g.71806201G>T | CA377162346 | CDH23 | c.8098G>T (p.Val2700Leu) c.2031G>T (n.2031G>T) c.1695G>T (n.1695G>T) c.8113G>T (p.Val2705Leu) c.1378G>T (p.Val460Leu) n.1634G>T c.8293G>T (p.Val2765Leu) c.8227G>T (p.Val2743Leu) c.8290G>T (p.Val2764Leu) c.8287G>T (p.Val2763Leu) c.8233G>T (p.Val2745Leu) c.8203G>T (p.Val2735Leu) c.8158G>T (p.Val2720Leu) c.7753G>T (p.Val2585Leu) c.7111G>T (p.Val2371Leu) c.4621G>T (p.Val1541Leu) | gnomAD v4 |
10 | g.71806202T>A | CA377162347 | CDH23 | c.8099T>A (p.Val2700Glu) c.2032T>A (n.2032T>A) c.1696T>A (n.1696T>A) c.8114T>A (p.Val2705Glu) c.1379T>A (p.Val460Glu) n.1635T>A c.8294T>A (p.Val2765Glu) c.8228T>A (p.Val2743Glu) c.8291T>A (p.Val2764Glu) c.8288T>A (p.Val2763Glu) c.8234T>A (p.Val2745Glu) c.8204T>A (p.Val2735Glu) c.8159T>A (p.Val2720Glu) c.7754T>A (p.Val2585Glu) c.7112T>A (p.Val2371Glu) c.4622T>A (p.Val1541Glu) | |
10 | g.71806202T>C | CA377162348 | CDH23 | c.8099T>C (p.Val2700Ala) c.2032T>C (n.2032T>C) c.1696T>C (n.1696T>C) c.8114T>C (p.Val2705Ala) c.1379T>C (p.Val460Ala) n.1635T>C c.8294T>C (p.Val2765Ala) c.8228T>C (p.Val2743Ala) c.8291T>C (p.Val2764Ala) c.8288T>C (p.Val2763Ala) c.8234T>C (p.Val2745Ala) c.8204T>C (p.Val2735Ala) c.8159T>C (p.Val2720Ala) c.7754T>C (p.Val2585Ala) c.7112T>C (p.Val2371Ala) c.4622T>C (p.Val1541Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806202T>G | CA377162349 | CDH23 | c.8099T>G (p.Val2700Gly) c.2032T>G (n.2032T>G) c.1696T>G (n.1696T>G) c.8114T>G (p.Val2705Gly) c.1379T>G (p.Val460Gly) n.1635T>G c.8294T>G (p.Val2765Gly) c.8228T>G (p.Val2743Gly) c.8291T>G (p.Val2764Gly) c.8288T>G (p.Val2763Gly) c.8234T>G (p.Val2745Gly) c.8204T>G (p.Val2735Gly) c.8159T>G (p.Val2720Gly) c.7754T>G (p.Val2585Gly) c.7112T>G (p.Val2371Gly) c.4622T>G (p.Val1541Gly) | |
10 | g.71806202T= | CA1918884970 | CDH23 | c.8099T= (p.Val2700=) c.2032T= (n.2032T=) c.1696T= (n.1696T=) c.8114T= (p.Val2705=) c.1379T= (p.Val460=) n.1635T= c.8294T= (p.Val2765=) c.8228T= (p.Val2743=) c.8291T= (p.Val2764=) c.8288T= (p.Val2763=) c.8234T= (p.Val2745=) c.8204T= (p.Val2735=) c.8159T= (p.Val2720=) c.7754T= (p.Val2585=) c.7112T= (p.Val2371=) c.4622T= (p.Val1541=) | |
10 | g.71806203G>A | CA470282209 | CDH23 | c.8100G>A (p.Val2700=) c.2033G>A (n.2033G>A) c.1697G>A (n.1697G>A) c.8115G>A (p.Val2705=) c.1380G>A (p.Val460=) n.1636G>A c.8295G>A (p.Val2765=) c.8229G>A (p.Val2743=) c.8292G>A (p.Val2764=) c.8289G>A (p.Val2763=) c.8235G>A (p.Val2745=) c.8205G>A (p.Val2735=) c.8160G>A (p.Val2720=) c.7755G>A (p.Val2585=) c.7113G>A (p.Val2371=) c.4623G>A (p.Val1541=) | gnomAD v4 |
10 | g.71806203G>C | CA470282211 | CDH23 | c.8100G>C (p.Val2700=) c.2033G>C (n.2033G>C) c.1697G>C (n.1697G>C) c.8115G>C (p.Val2705=) c.1380G>C (p.Val460=) n.1636G>C c.8295G>C (p.Val2765=) c.8229G>C (p.Val2743=) c.8292G>C (p.Val2764=) c.8289G>C (p.Val2763=) c.8235G>C (p.Val2745=) c.8205G>C (p.Val2735=) c.8160G>C (p.Val2720=) c.7755G>C (p.Val2585=) c.7113G>C (p.Val2371=) c.4623G>C (p.Val1541=) | gnomAD v4 |
10 | g.71806203G>T | CA470282213 | CDH23 | c.8100G>T (p.Val2700=) c.2033G>T (n.2033G>T) c.1697G>T (n.1697G>T) c.8115G>T (p.Val2705=) c.1380G>T (p.Val460=) n.1636G>T c.8295G>T (p.Val2765=) c.8229G>T (p.Val2743=) c.8292G>T (p.Val2764=) c.8289G>T (p.Val2763=) c.8235G>T (p.Val2745=) c.8205G>T (p.Val2735=) c.8160G>T (p.Val2720=) c.7755G>T (p.Val2585=) c.7113G>T (p.Val2371=) c.4623G>T (p.Val1541=) | gnomAD v4 |
10 | g.71806204C>A | CA377162350 | CDH23 | c.8101C>A (p.Pro2701Thr) c.2034C>A (n.2034C>A) c.1698C>A (n.1698C>A) c.8116C>A (p.Pro2706Thr) c.1381C>A (p.Pro461Thr) n.1637C>A c.8296C>A (p.Pro2766Thr) c.8230C>A (p.Pro2744Thr) c.8293C>A (p.Pro2765Thr) c.8290C>A (p.Pro2764Thr) c.8236C>A (p.Pro2746Thr) c.8206C>A (p.Pro2736Thr) c.8161C>A (p.Pro2721Thr) c.7756C>A (p.Pro2586Thr) c.7114C>A (p.Pro2372Thr) c.4624C>A (p.Pro1542Thr) | gnomAD v4 |
10 | g.71806204C= | CA1918884975 | CDH23 | c.8101C= (p.Pro2701=) c.2034C= (n.2034C=) c.1698C= (n.1698C=) c.8116C= (p.Pro2706=) c.1381C= (p.Pro461=) n.1637C= c.8296C= (p.Pro2766=) c.8230C= (p.Pro2744=) c.8293C= (p.Pro2765=) c.8290C= (p.Pro2764=) c.8236C= (p.Pro2746=) c.8206C= (p.Pro2736=) c.8161C= (p.Pro2721=) c.7756C= (p.Pro2586=) c.7114C= (p.Pro2372=) c.4624C= (p.Pro1542=) | |
10 | g.71806204C>G | CA377162352 | CDH23 | c.8101C>G (p.Pro2701Ala) c.2034C>G (n.2034C>G) c.1698C>G (n.1698C>G) c.8116C>G (p.Pro2706Ala) c.1381C>G (p.Pro461Ala) n.1637C>G c.8296C>G (p.Pro2766Ala) c.8230C>G (p.Pro2744Ala) c.8293C>G (p.Pro2765Ala) c.8290C>G (p.Pro2764Ala) c.8236C>G (p.Pro2746Ala) c.8206C>G (p.Pro2736Ala) c.8161C>G (p.Pro2721Ala) c.7756C>G (p.Pro2586Ala) c.7114C>G (p.Pro2372Ala) c.4624C>G (p.Pro1542Ala) | |
10 | g.71806204C>T | CA377162351 | CDH23 | c.8101C>T (p.Pro2701Ser) c.2034C>T (n.2034C>T) c.1698C>T (n.1698C>T) c.8116C>T (p.Pro2706Ser) c.1381C>T (p.Pro461Ser) n.1637C>T c.8296C>T (p.Pro2766Ser) c.8230C>T (p.Pro2744Ser) c.8293C>T (p.Pro2765Ser) c.8290C>T (p.Pro2764Ser) c.8236C>T (p.Pro2746Ser) c.8206C>T (p.Pro2736Ser) c.8161C>T (p.Pro2721Ser) c.7756C>T (p.Pro2586Ser) c.7114C>T (p.Pro2372Ser) c.4624C>T (p.Pro1542Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806205C>A | CA377162353 | CDH23 | c.8102C>A (p.Pro2701Gln) c.2035C>A (n.2035C>A) c.1699C>A (n.1699C>A) c.8117C>A (p.Pro2706Gln) c.1382C>A (p.Pro461Gln) n.1638C>A c.8297C>A (p.Pro2766Gln) c.8231C>A (p.Pro2744Gln) c.8294C>A (p.Pro2765Gln) c.8291C>A (p.Pro2764Gln) c.8237C>A (p.Pro2746Gln) c.8207C>A (p.Pro2736Gln) c.8162C>A (p.Pro2721Gln) c.7757C>A (p.Pro2586Gln) c.7115C>A (p.Pro2372Gln) c.4625C>A (p.Pro1542Gln) | gnomAD v4 |
10 | g.71806205C= | CA1918884977 | CDH23 | c.8102C= (p.Pro2701=) c.2035C= (n.2035C=) c.1699C= (n.1699C=) c.8117C= (p.Pro2706=) c.1382C= (p.Pro461=) n.1638C= c.8297C= (p.Pro2766=) c.8231C= (p.Pro2744=) c.8294C= (p.Pro2765=) c.8291C= (p.Pro2764=) c.8237C= (p.Pro2746=) c.8207C= (p.Pro2736=) c.8162C= (p.Pro2721=) c.7757C= (p.Pro2586=) c.7115C= (p.Pro2372=) c.4625C= (p.Pro1542=) | |
10 | g.71806205C>G | CA377162354 | CDH23 | c.8102C>G (p.Pro2701Arg) c.2035C>G (n.2035C>G) c.1699C>G (n.1699C>G) c.8117C>G (p.Pro2706Arg) c.1382C>G (p.Pro461Arg) n.1638C>G c.8297C>G (p.Pro2766Arg) c.8231C>G (p.Pro2744Arg) c.8294C>G (p.Pro2765Arg) c.8291C>G (p.Pro2764Arg) c.8237C>G (p.Pro2746Arg) c.8207C>G (p.Pro2736Arg) c.8162C>G (p.Pro2721Arg) c.7757C>G (p.Pro2586Arg) c.7115C>G (p.Pro2372Arg) c.4625C>G (p.Pro1542Arg) | |
10 | g.71806205C>T | CA377162355 | CDH23 | c.8102C>T (p.Pro2701Leu) c.2035C>T (n.2035C>T) c.1699C>T (n.1699C>T) c.8117C>T (p.Pro2706Leu) c.1382C>T (p.Pro461Leu) n.1638C>T c.8297C>T (p.Pro2766Leu) c.8231C>T (p.Pro2744Leu) c.8294C>T (p.Pro2765Leu) c.8291C>T (p.Pro2764Leu) c.8237C>T (p.Pro2746Leu) c.8207C>T (p.Pro2736Leu) c.8162C>T (p.Pro2721Leu) c.7757C>T (p.Pro2586Leu) c.7115C>T (p.Pro2372Leu) c.4625C>T (p.Pro1542Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806206A>C | CA470282218 | CDH23 | c.8103A>C (p.Pro2701=) c.2036A>C (n.2036A>C) c.1700A>C (n.1700A>C) c.8118A>C (p.Pro2706=) c.1383A>C (p.Pro461=) n.1639A>C c.8298A>C (p.Pro2766=) c.8232A>C (p.Pro2744=) c.8295A>C (p.Pro2765=) c.8292A>C (p.Pro2764=) c.8238A>C (p.Pro2746=) c.8208A>C (p.Pro2736=) c.8163A>C (p.Pro2721=) c.7758A>C (p.Pro2586=) c.7116A>C (p.Pro2372=) c.4626A>C (p.Pro1542=) | |
10 | g.71806206A>G | CA470282219 | CDH23 | c.8103A>G (p.Pro2701=) c.2036A>G (n.2036A>G) c.1700A>G (n.1700A>G) c.8118A>G (p.Pro2706=) c.1383A>G (p.Pro461=) n.1639A>G c.8298A>G (p.Pro2766=) c.8232A>G (p.Pro2744=) c.8295A>G (p.Pro2765=) c.8292A>G (p.Pro2764=) c.8238A>G (p.Pro2746=) c.8208A>G (p.Pro2736=) c.8163A>G (p.Pro2721=) c.7758A>G (p.Pro2586=) c.7116A>G (p.Pro2372=) c.4626A>G (p.Pro1542=) | gnomAD v4 |
10 | g.71806206A>T | CA470282221 | CDH23 | c.8103A>T (p.Pro2701=) c.2036A>T (n.2036A>T) c.1700A>T (n.1700A>T) c.8118A>T (p.Pro2706=) c.1383A>T (p.Pro461=) n.1639A>T c.8298A>T (p.Pro2766=) c.8232A>T (p.Pro2744=) c.8295A>T (p.Pro2765=) c.8292A>T (p.Pro2764=) c.8238A>T (p.Pro2746=) c.8208A>T (p.Pro2736=) c.8163A>T (p.Pro2721=) c.7758A>T (p.Pro2586=) c.7116A>T (p.Pro2372=) c.4626A>T (p.Pro1542=) | gnomAD v4 |
10 | g.71806207T>A | CA377162356 | CDH23 | c.8104T>A (p.Tyr2702Asn) c.2037T>A (n.2037T>A) c.1701T>A (n.1701T>A) c.8119T>A (p.Tyr2707Asn) c.1384T>A (p.Tyr462Asn) n.1640T>A c.8299T>A (p.Tyr2767Asn) c.8233T>A (p.Tyr2745Asn) c.8296T>A (p.Tyr2766Asn) c.8293T>A (p.Tyr2765Asn) c.8239T>A (p.Tyr2747Asn) c.8209T>A (p.Tyr2737Asn) c.8164T>A (p.Tyr2722Asn) c.7759T>A (p.Tyr2587Asn) c.7117T>A (p.Tyr2373Asn) c.4627T>A (p.Tyr1543Asn) | gnomAD v4 |
10 | g.71806207T>C | CA377162357 | CDH23 | c.8104T>C (p.Tyr2702His) c.2037T>C (n.2037T>C) c.1701T>C (n.1701T>C) c.8119T>C (p.Tyr2707His) c.1384T>C (p.Tyr462His) n.1640T>C c.8299T>C (p.Tyr2767His) c.8233T>C (p.Tyr2745His) c.8296T>C (p.Tyr2766His) c.8293T>C (p.Tyr2765His) c.8239T>C (p.Tyr2747His) c.8209T>C (p.Tyr2737His) c.8164T>C (p.Tyr2722His) c.7759T>C (p.Tyr2587His) c.7117T>C (p.Tyr2373His) c.4627T>C (p.Tyr1543His) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806207T>G | CA377162358 | CDH23 | c.8104T>G (p.Tyr2702Asp) c.2037T>G (n.2037T>G) c.1701T>G (n.1701T>G) c.8119T>G (p.Tyr2707Asp) c.1384T>G (p.Tyr462Asp) n.1640T>G c.8299T>G (p.Tyr2767Asp) c.8233T>G (p.Tyr2745Asp) c.8296T>G (p.Tyr2766Asp) c.8293T>G (p.Tyr2765Asp) c.8239T>G (p.Tyr2747Asp) c.8209T>G (p.Tyr2737Asp) c.8164T>G (p.Tyr2722Asp) c.7759T>G (p.Tyr2587Asp) c.7117T>G (p.Tyr2373Asp) c.4627T>G (p.Tyr1543Asp) | |
10 | g.71806207T= | CA1918884979 | CDH23 | c.8104T= (p.Tyr2702=) c.2037T= (n.2037T=) c.1701T= (n.1701T=) c.8119T= (p.Tyr2707=) c.1384T= (p.Tyr462=) n.1640T= c.8299T= (p.Tyr2767=) c.8233T= (p.Tyr2745=) c.8296T= (p.Tyr2766=) c.8293T= (p.Tyr2765=) c.8239T= (p.Tyr2747=) c.8209T= (p.Tyr2737=) c.8164T= (p.Tyr2722=) c.7759T= (p.Tyr2587=) c.7117T= (p.Tyr2373=) c.4627T= (p.Tyr1543=) | |
10 | g.71806208A>C | CA377162359 | CDH23 | c.8105A>C (p.Tyr2702Ser) c.2038A>C (n.2038A>C) c.1702A>C (n.1702A>C) c.8120A>C (p.Tyr2707Ser) c.1385A>C (p.Tyr462Ser) n.1641A>C c.8300A>C (p.Tyr2767Ser) c.8234A>C (p.Tyr2745Ser) c.8297A>C (p.Tyr2766Ser) c.8294A>C (p.Tyr2765Ser) c.8240A>C (p.Tyr2747Ser) c.8210A>C (p.Tyr2737Ser) c.8165A>C (p.Tyr2722Ser) c.7760A>C (p.Tyr2587Ser) c.7118A>C (p.Tyr2373Ser) c.4628A>C (p.Tyr1543Ser) | |
10 | g.71806208A>G | CA377162360 | CDH23 | c.8105A>G (p.Tyr2702Cys) c.2038A>G (n.2038A>G) c.1702A>G (n.1702A>G) c.8120A>G (p.Tyr2707Cys) c.1385A>G (p.Tyr462Cys) n.1641A>G c.8300A>G (p.Tyr2767Cys) c.8234A>G (p.Tyr2745Cys) c.8297A>G (p.Tyr2766Cys) c.8294A>G (p.Tyr2765Cys) c.8240A>G (p.Tyr2747Cys) c.8210A>G (p.Tyr2737Cys) c.8165A>G (p.Tyr2722Cys) c.7760A>G (p.Tyr2587Cys) c.7118A>G (p.Tyr2373Cys) c.4628A>G (p.Tyr1543Cys) | |
10 | g.71806208A>T | CA377162361 | CDH23 | c.8105A>T (p.Tyr2702Phe) c.2038A>T (n.2038A>T) c.1702A>T (n.1702A>T) c.8120A>T (p.Tyr2707Phe) c.1385A>T (p.Tyr462Phe) n.1641A>T c.8300A>T (p.Tyr2767Phe) c.8234A>T (p.Tyr2745Phe) c.8297A>T (p.Tyr2766Phe) c.8294A>T (p.Tyr2765Phe) c.8240A>T (p.Tyr2747Phe) c.8210A>T (p.Tyr2737Phe) c.8165A>T (p.Tyr2722Phe) c.7760A>T (p.Tyr2587Phe) c.7118A>T (p.Tyr2373Phe) c.4628A>T (p.Tyr1543Phe) | gnomAD v4 |
10 | g.71806209C>A | CA377162363 | CDH23 | c.8106C>A (p.Tyr2702Ter) c.2039C>A (n.2039C>A) c.1703C>A (n.1703C>A) c.8121C>A (p.Tyr2707Ter) c.1386C>A (p.Tyr462Ter) n.1642C>A c.8301C>A (p.Tyr2767Ter) c.8235C>A (p.Tyr2745Ter) c.8298C>A (p.Tyr2766Ter) c.8295C>A (p.Tyr2765Ter) c.8241C>A (p.Tyr2747Ter) c.8211C>A (p.Tyr2737Ter) c.8166C>A (p.Tyr2722Ter) c.7761C>A (p.Tyr2587Ter) c.7119C>A (p.Tyr2373Ter) c.4629C>A (p.Tyr1543Ter) | ClinVar gnomAD v4 |
10 | g.71806209C= | CA1918884981 | CDH23 | c.8106C= (p.Tyr2702=) c.2039C= (n.2039C=) c.1703C= (n.1703C=) c.8121C= (p.Tyr2707=) c.1386C= (p.Tyr462=) n.1642C= c.8301C= (p.Tyr2767=) c.8235C= (p.Tyr2745=) c.8298C= (p.Tyr2766=) c.8295C= (p.Tyr2765=) c.8241C= (p.Tyr2747=) c.8211C= (p.Tyr2737=) c.8166C= (p.Tyr2722=) c.7761C= (p.Tyr2587=) c.7119C= (p.Tyr2373=) c.4629C= (p.Tyr1543=) | |
10 | g.71806209C>G | CA377162362 | CDH23 | c.8106C>G (p.Tyr2702Ter) c.2039C>G (n.2039C>G) c.1703C>G (n.1703C>G) c.8121C>G (p.Tyr2707Ter) c.1386C>G (p.Tyr462Ter) n.1642C>G c.8301C>G (p.Tyr2767Ter) c.8235C>G (p.Tyr2745Ter) c.8298C>G (p.Tyr2766Ter) c.8295C>G (p.Tyr2765Ter) c.8241C>G (p.Tyr2747Ter) c.8211C>G (p.Tyr2737Ter) c.8166C>G (p.Tyr2722Ter) c.7761C>G (p.Tyr2587Ter) c.7119C>G (p.Tyr2373Ter) c.4629C>G (p.Tyr1543Ter) | ClinVar dbSNP gnomAD v4 |
10 | g.71806209C>T | CA209474397 | CDH23 | c.8106C>T (p.Tyr2702=) c.2039C>T (n.2039C>T) c.1703C>T (n.1703C>T) c.8121C>T (p.Tyr2707=) c.1386C>T (p.Tyr462=) n.1642C>T c.8301C>T (p.Tyr2767=) c.8235C>T (p.Tyr2745=) c.8298C>T (p.Tyr2766=) c.8295C>T (p.Tyr2765=) c.8241C>T (p.Tyr2747=) c.8211C>T (p.Tyr2737=) c.8166C>T (p.Tyr2722=) c.7761C>T (p.Tyr2587=) c.7119C>T (p.Tyr2373=) c.4629C>T (p.Tyr1543=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806210G>A | CA5546548 | CDH23 | c.8107G>A (p.Glu2703Lys) c.2040G>A (n.2040G>A) c.1704G>A (n.1704G>A) c.8122G>A (p.Glu2708Lys) c.1387G>A (p.Glu463Lys) n.1643G>A c.8302G>A (p.Glu2768Lys) c.8236G>A (p.Glu2746Lys) c.8299G>A (p.Glu2767Lys) c.8296G>A (p.Glu2766Lys) c.8242G>A (p.Glu2748Lys) c.8212G>A (p.Glu2738Lys) c.8167G>A (p.Glu2723Lys) c.7762G>A (p.Glu2588Lys) c.7120G>A (p.Glu2374Lys) c.4630G>A (p.Glu1544Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71806210G>C | CA5546547 | CDH23 | c.8107G>C (p.Glu2703Gln) c.2040G>C (n.2040G>C) c.1704G>C (n.1704G>C) c.8122G>C (p.Glu2708Gln) c.1387G>C (p.Glu463Gln) n.1643G>C c.8302G>C (p.Glu2768Gln) c.8236G>C (p.Glu2746Gln) c.8299G>C (p.Glu2767Gln) c.8296G>C (p.Glu2766Gln) c.8242G>C (p.Glu2748Gln) c.8212G>C (p.Glu2738Gln) c.8167G>C (p.Glu2723Gln) c.7762G>C (p.Glu2588Gln) c.7120G>C (p.Glu2374Gln) c.4630G>C (p.Glu1544Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806210G= | CA1918884983 | CDH23 | c.8107G= (p.Glu2703=) c.2040G= (n.2040G=) c.1704G= (n.1704G=) c.8122G= (p.Glu2708=) c.1387G= (p.Glu463=) n.1643G= c.8302G= (p.Glu2768=) c.8236G= (p.Glu2746=) c.8299G= (p.Glu2767=) c.8296G= (p.Glu2766=) c.8242G= (p.Glu2748=) c.8212G= (p.Glu2738=) c.8167G= (p.Glu2723=) c.7762G= (p.Glu2588=) c.7120G= (p.Glu2374=) c.4630G= (p.Glu1544=) | |
10 | g.71806210G>T | CA377162364 | CDH23 | c.8107G>T (p.Glu2703Ter) c.2040G>T (n.2040G>T) c.1704G>T (n.1704G>T) c.8122G>T (p.Glu2708Ter) c.1387G>T (p.Glu463Ter) n.1643G>T c.8302G>T (p.Glu2768Ter) c.8236G>T (p.Glu2746Ter) c.8299G>T (p.Glu2767Ter) c.8296G>T (p.Glu2766Ter) c.8242G>T (p.Glu2748Ter) c.8212G>T (p.Glu2738Ter) c.8167G>T (p.Glu2723Ter) c.7762G>T (p.Glu2588Ter) c.7120G>T (p.Glu2374Ter) c.4630G>T (p.Glu1544Ter) | gnomAD v4 |
10 | g.71806211A>C | CA377162365 | CDH23 | c.8108A>C (p.Glu2703Ala) c.2041A>C (n.2041A>C) c.1705A>C (n.1705A>C) c.8123A>C (p.Glu2708Ala) c.1388A>C (p.Glu463Ala) n.1644A>C c.8303A>C (p.Glu2768Ala) c.8237A>C (p.Glu2746Ala) c.8300A>C (p.Glu2767Ala) c.8297A>C (p.Glu2766Ala) c.8243A>C (p.Glu2748Ala) c.8213A>C (p.Glu2738Ala) c.8168A>C (p.Glu2723Ala) c.7763A>C (p.Glu2588Ala) c.7121A>C (p.Glu2374Ala) c.4631A>C (p.Glu1544Ala) | |
10 | g.71806211A>G | CA377162366 | CDH23 | c.8108A>G (p.Glu2703Gly) c.2041A>G (n.2041A>G) c.1705A>G (n.1705A>G) c.8123A>G (p.Glu2708Gly) c.1388A>G (p.Glu463Gly) n.1644A>G c.8303A>G (p.Glu2768Gly) c.8237A>G (p.Glu2746Gly) c.8300A>G (p.Glu2767Gly) c.8297A>G (p.Glu2766Gly) c.8243A>G (p.Glu2748Gly) c.8213A>G (p.Glu2738Gly) c.8168A>G (p.Glu2723Gly) c.7763A>G (p.Glu2588Gly) c.7121A>G (p.Glu2374Gly) c.4631A>G (p.Glu1544Gly) | gnomAD v4 |
10 | g.71806211A>T | CA377162367 | CDH23 | c.8108A>T (p.Glu2703Val) c.2041A>T (n.2041A>T) c.1705A>T (n.1705A>T) c.8123A>T (p.Glu2708Val) c.1388A>T (p.Glu463Val) n.1644A>T c.8303A>T (p.Glu2768Val) c.8237A>T (p.Glu2746Val) c.8300A>T (p.Glu2767Val) c.8297A>T (p.Glu2766Val) c.8243A>T (p.Glu2748Val) c.8213A>T (p.Glu2738Val) c.8168A>T (p.Glu2723Val) c.7763A>T (p.Glu2588Val) c.7121A>T (p.Glu2374Val) c.4631A>T (p.Glu1544Val) | |
10 | g.71806212G>A | CA470282233 | CDH23 | c.8109G>A (p.Glu2703=) c.2042G>A (n.2042G>A) c.1706G>A (n.1706G>A) c.8124G>A (p.Glu2708=) c.1389G>A (p.Glu463=) n.1645G>A c.8304G>A (p.Glu2768=) c.8238G>A (p.Glu2746=) c.8301G>A (p.Glu2767=) c.8298G>A (p.Glu2766=) c.8244G>A (p.Glu2748=) c.8214G>A (p.Glu2738=) c.8169G>A (p.Glu2723=) c.7764G>A (p.Glu2588=) c.7122G>A (p.Glu2374=) c.4632G>A (p.Glu1544=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.71806212G>C | CA377162368 | CDH23 | c.8109G>C (p.Glu2703Asp) c.2042G>C (n.2042G>C) c.1706G>C (n.1706G>C) c.8124G>C (p.Glu2708Asp) c.1389G>C (p.Glu463Asp) n.1645G>C c.8304G>C (p.Glu2768Asp) c.8238G>C (p.Glu2746Asp) c.8301G>C (p.Glu2767Asp) c.8298G>C (p.Glu2766Asp) c.8244G>C (p.Glu2748Asp) c.8214G>C (p.Glu2738Asp) c.8169G>C (p.Glu2723Asp) c.7764G>C (p.Glu2588Asp) c.7122G>C (p.Glu2374Asp) c.4632G>C (p.Glu1544Asp) | dbSNP |
10 | g.71806212G= | CA1918884987 | CDH23 | c.8109G= (p.Glu2703=) c.2042G= (n.2042G=) c.1706G= (n.1706G=) c.8124G= (p.Glu2708=) c.1389G= (p.Glu463=) n.1645G= c.8304G= (p.Glu2768=) c.8238G= (p.Glu2746=) c.8301G= (p.Glu2767=) c.8298G= (p.Glu2766=) c.8244G= (p.Glu2748=) c.8214G= (p.Glu2738=) c.8169G= (p.Glu2723=) c.7764G= (p.Glu2588=) c.7122G= (p.Glu2374=) c.4632G= (p.Glu1544=) | |
10 | g.71806212G>T | CA377162369 | CDH23 | c.8109G>T (p.Glu2703Asp) c.2042G>T (n.2042G>T) c.1706G>T (n.1706G>T) c.8124G>T (p.Glu2708Asp) c.1389G>T (p.Glu463Asp) n.1645G>T c.8304G>T (p.Glu2768Asp) c.8238G>T (p.Glu2746Asp) c.8301G>T (p.Glu2767Asp) c.8298G>T (p.Glu2766Asp) c.8244G>T (p.Glu2748Asp) c.8214G>T (p.Glu2738Asp) c.8169G>T (p.Glu2723Asp) c.7764G>T (p.Glu2588Asp) c.7122G>T (p.Glu2374Asp) c.4632G>T (p.Glu1544Asp) | gnomAD v4 |
10 | g.71806213A>C | CA377162370 | CDH23 | c.8110A>C (p.Thr2704Pro) c.2043A>C (n.2043A>C) c.1707A>C (n.1707A>C) c.8125A>C (p.Thr2709Pro) c.1390A>C (p.Thr464Pro) n.1646A>C c.8305A>C (p.Thr2769Pro) c.8239A>C (p.Thr2747Pro) c.8302A>C (p.Thr2768Pro) c.8299A>C (p.Thr2767Pro) c.8245A>C (p.Thr2749Pro) c.8215A>C (p.Thr2739Pro) c.8170A>C (p.Thr2724Pro) c.7765A>C (p.Thr2589Pro) c.7123A>C (p.Thr2375Pro) c.4633A>C (p.Thr1545Pro) | |
10 | g.71806213A>G | CA377162371 | CDH23 | c.8110A>G (p.Thr2704Ala) c.2043A>G (n.2043A>G) c.1707A>G (n.1707A>G) c.8125A>G (p.Thr2709Ala) c.1390A>G (p.Thr464Ala) n.1646A>G c.8305A>G (p.Thr2769Ala) c.8239A>G (p.Thr2747Ala) c.8302A>G (p.Thr2768Ala) c.8299A>G (p.Thr2767Ala) c.8245A>G (p.Thr2749Ala) c.8215A>G (p.Thr2739Ala) c.8170A>G (p.Thr2724Ala) c.7765A>G (p.Thr2589Ala) c.7123A>G (p.Thr2375Ala) c.4633A>G (p.Thr1545Ala) | ClinVar |
10 | g.71806213A>T | CA377162372 | CDH23 | c.8110A>T (p.Thr2704Ser) c.2043A>T (n.2043A>T) c.1707A>T (n.1707A>T) c.8125A>T (p.Thr2709Ser) c.1390A>T (p.Thr464Ser) n.1646A>T c.8305A>T (p.Thr2769Ser) c.8239A>T (p.Thr2747Ser) c.8302A>T (p.Thr2768Ser) c.8299A>T (p.Thr2767Ser) c.8245A>T (p.Thr2749Ser) c.8215A>T (p.Thr2739Ser) c.8170A>T (p.Thr2724Ser) c.7765A>T (p.Thr2589Ser) c.7123A>T (p.Thr2375Ser) c.4633A>T (p.Thr1545Ser) | |
10 | g.71806214C>A | CA377162374 | CDH23 | c.8111C>A (p.Thr2704Asn) c.2044C>A (n.2044C>A) c.1708C>A (n.1708C>A) c.8126C>A (p.Thr2709Asn) c.1391C>A (p.Thr464Asn) n.1647C>A c.8306C>A (p.Thr2769Asn) c.8240C>A (p.Thr2747Asn) c.8303C>A (p.Thr2768Asn) c.8300C>A (p.Thr2767Asn) c.8246C>A (p.Thr2749Asn) c.8216C>A (p.Thr2739Asn) c.8171C>A (p.Thr2724Asn) c.7766C>A (p.Thr2589Asn) c.7124C>A (p.Thr2375Asn) c.4634C>A (p.Thr1545Asn) | gnomAD v4 |
10 | g.71806214C= | CA1918884991 | CDH23 | c.8111C= (p.Thr2704=) c.2044C= (n.2044C=) c.1708C= (n.1708C=) c.8126C= (p.Thr2709=) c.1391C= (p.Thr464=) n.1647C= c.8306C= (p.Thr2769=) c.8240C= (p.Thr2747=) c.8303C= (p.Thr2768=) c.8300C= (p.Thr2767=) c.8246C= (p.Thr2749=) c.8216C= (p.Thr2739=) c.8171C= (p.Thr2724=) c.7766C= (p.Thr2589=) c.7124C= (p.Thr2375=) c.4634C= (p.Thr1545=) | |
10 | g.71806214C>G | CA5546549 | CDH23 | c.8111C>G (p.Thr2704Ser) c.2044C>G (n.2044C>G) c.1708C>G (n.1708C>G) c.8126C>G (p.Thr2709Ser) c.1391C>G (p.Thr464Ser) n.1647C>G c.8306C>G (p.Thr2769Ser) c.8240C>G (p.Thr2747Ser) c.8303C>G (p.Thr2768Ser) c.8300C>G (p.Thr2767Ser) c.8246C>G (p.Thr2749Ser) c.8216C>G (p.Thr2739Ser) c.8171C>G (p.Thr2724Ser) c.7766C>G (p.Thr2589Ser) c.7124C>G (p.Thr2375Ser) c.4634C>G (p.Thr1545Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806214C>T | CA377162373 | CDH23 | c.8111C>T (p.Thr2704Ile) c.2044C>T (n.2044C>T) c.1708C>T (n.1708C>T) c.8126C>T (p.Thr2709Ile) c.1391C>T (p.Thr464Ile) n.1647C>T c.8306C>T (p.Thr2769Ile) c.8240C>T (p.Thr2747Ile) c.8303C>T (p.Thr2768Ile) c.8300C>T (p.Thr2767Ile) c.8246C>T (p.Thr2749Ile) c.8216C>T (p.Thr2739Ile) c.8171C>T (p.Thr2724Ile) c.7766C>T (p.Thr2589Ile) c.7124C>T (p.Thr2375Ile) c.4634C>T (p.Thr1545Ile) | dbSNP gnomAD v4 |
10 | g.71806215T>A | CA470282239 | CDH23 | c.8112T>A (p.Thr2704=) c.2045T>A (n.2045T>A) c.1709T>A (n.1709T>A) c.8127T>A (p.Thr2709=) c.1392T>A (p.Thr464=) n.1648T>A c.8307T>A (p.Thr2769=) c.8241T>A (p.Thr2747=) c.8304T>A (p.Thr2768=) c.8301T>A (p.Thr2767=) c.8247T>A (p.Thr2749=) c.8217T>A (p.Thr2739=) c.8172T>A (p.Thr2724=) c.7767T>A (p.Thr2589=) c.7125T>A (p.Thr2375=) c.4635T>A (p.Thr1545=) | gnomAD v4 |
10 | g.71806215T>C | CA470282240 | CDH23 | c.8112T>C (p.Thr2704=) c.2045T>C (n.2045T>C) c.1709T>C (n.1709T>C) c.8127T>C (p.Thr2709=) c.1392T>C (p.Thr464=) n.1648T>C c.8307T>C (p.Thr2769=) c.8241T>C (p.Thr2747=) c.8304T>C (p.Thr2768=) c.8301T>C (p.Thr2767=) c.8247T>C (p.Thr2749=) c.8217T>C (p.Thr2739=) c.8172T>C (p.Thr2724=) c.7767T>C (p.Thr2589=) c.7125T>C (p.Thr2375=) c.4635T>C (p.Thr1545=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806215T>G | CA470282241 | CDH23 | c.8112T>G (p.Thr2704=) c.2045T>G (n.2045T>G) c.1709T>G (n.1709T>G) c.8127T>G (p.Thr2709=) c.1392T>G (p.Thr464=) n.1648T>G c.8307T>G (p.Thr2769=) c.8241T>G (p.Thr2747=) c.8304T>G (p.Thr2768=) c.8301T>G (p.Thr2767=) c.8247T>G (p.Thr2749=) c.8217T>G (p.Thr2739=) c.8172T>G (p.Thr2724=) c.7767T>G (p.Thr2589=) c.7125T>G (p.Thr2375=) c.4635T>G (p.Thr1545=) | |
10 | g.71806215T= | CA1918884995 | CDH23 | c.8112T= (p.Thr2704=) c.2045T= (n.2045T=) c.1709T= (n.1709T=) c.8127T= (p.Thr2709=) c.1392T= (p.Thr464=) n.1648T= c.8307T= (p.Thr2769=) c.8241T= (p.Thr2747=) c.8304T= (p.Thr2768=) c.8301T= (p.Thr2767=) c.8247T= (p.Thr2749=) c.8217T= (p.Thr2739=) c.8172T= (p.Thr2724=) c.7767T= (p.Thr2589=) c.7125T= (p.Thr2375=) c.4635T= (p.Thr1545=) | |
10 | g.71806216_71806217del | CA2788482871 | CDH23 | c.8113_8114del (p.Met2705AlafsTer12) c.2046_2047del (n.2046_2047del) c.1710_1711del (n.1710_1711del) c.8128_8129del (p.Met2710AlafsTer12) c.1393_1394del (p.Met465AlafsTer12) n.1649_1650del c.8308_8309del (p.Met2770AlafsTer12) c.8242_8243del (p.Met2748AlafsTer12) c.8305_8306del (p.Met2769AlafsTer12) c.8302_8303del (p.Met2768AlafsTer12) c.8248_8249del (p.Met2750AlafsTer12) c.8218_8219del (p.Met2740AlafsTer12) c.8173_8174del (p.Met2725AlafsTer12) c.7768_7769del (p.Met2590AlafsTer12) c.7126_7127del (p.Met2376AlafsTer12) c.4636_4637del (p.Met1546AlafsTer12) | |
10 | g.71806216A= | CA1918884997 | CDH23 | c.8113A= (p.Met2705=) c.2046A= (n.2046A=) c.1710A= (n.1710A=) c.8128A= (p.Met2710=) c.1393A= (p.Met465=) n.1649A= c.8308A= (p.Met2770=) c.8242A= (p.Met2748=) c.8305A= (p.Met2769=) c.8302A= (p.Met2768=) c.8248A= (p.Met2750=) c.8218A= (p.Met2740=) c.8173A= (p.Met2725=) c.7768A= (p.Met2590=) c.7126A= (p.Met2376=) c.4636A= (p.Met1546=) | |
10 | g.71806216A>C | CA5546550 | CDH23 | c.8113A>C (p.Met2705Leu) c.2046A>C (n.2046A>C) c.1710A>C (n.1710A>C) c.8128A>C (p.Met2710Leu) c.1393A>C (p.Met465Leu) n.1649A>C c.8308A>C (p.Met2770Leu) c.8242A>C (p.Met2748Leu) c.8305A>C (p.Met2769Leu) c.8302A>C (p.Met2768Leu) c.8248A>C (p.Met2750Leu) c.8218A>C (p.Met2740Leu) c.8173A>C (p.Met2725Leu) c.7768A>C (p.Met2590Leu) c.7126A>C (p.Met2376Leu) c.4636A>C (p.Met1546Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71806216A>G | CA5546551 | CDH23 | c.8113A>G (p.Met2705Val) c.2046A>G (n.2046A>G) c.1710A>G (n.1710A>G) c.8128A>G (p.Met2710Val) c.1393A>G (p.Met465Val) n.1649A>G c.8308A>G (p.Met2770Val) c.8242A>G (p.Met2748Val) c.8305A>G (p.Met2769Val) c.8302A>G (p.Met2768Val) c.8248A>G (p.Met2750Val) c.8218A>G (p.Met2740Val) c.8173A>G (p.Met2725Val) c.7768A>G (p.Met2590Val) c.7126A>G (p.Met2376Val) c.4636A>G (p.Met1546Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806216A>T | CA377162375 | CDH23 | c.8113A>T (p.Met2705Leu) c.2046A>T (n.2046A>T) c.1710A>T (n.1710A>T) c.8128A>T (p.Met2710Leu) c.1393A>T (p.Met465Leu) n.1649A>T c.8308A>T (p.Met2770Leu) c.8242A>T (p.Met2748Leu) c.8305A>T (p.Met2769Leu) c.8302A>T (p.Met2768Leu) c.8248A>T (p.Met2750Leu) c.8218A>T (p.Met2740Leu) c.8173A>T (p.Met2725Leu) c.7768A>T (p.Met2590Leu) c.7126A>T (p.Met2376Leu) c.4636A>T (p.Met1546Leu) | gnomAD v4 |
10 | g.71806217T>A | CA377162376 | CDH23 | c.8114T>A (p.Met2705Lys) c.2047T>A (n.2047T>A) c.1711T>A (n.1711T>A) c.8129T>A (p.Met2710Lys) c.1394T>A (p.Met465Lys) n.1650T>A c.8309T>A (p.Met2770Lys) c.8243T>A (p.Met2748Lys) c.8306T>A (p.Met2769Lys) c.8303T>A (p.Met2768Lys) c.8249T>A (p.Met2750Lys) c.8219T>A (p.Met2740Lys) c.8174T>A (p.Met2725Lys) c.7769T>A (p.Met2590Lys) c.7127T>A (p.Met2376Lys) c.4637T>A (p.Met1546Lys) | gnomAD v4 |
10 | g.71806217T>C | CA377162377 | CDH23 | c.8114T>C (p.Met2705Thr) c.2047T>C (n.2047T>C) c.1711T>C (n.1711T>C) c.8129T>C (p.Met2710Thr) c.1394T>C (p.Met465Thr) n.1650T>C c.8309T>C (p.Met2770Thr) c.8243T>C (p.Met2748Thr) c.8306T>C (p.Met2769Thr) c.8303T>C (p.Met2768Thr) c.8249T>C (p.Met2750Thr) c.8219T>C (p.Met2740Thr) c.8174T>C (p.Met2725Thr) c.7769T>C (p.Met2590Thr) c.7127T>C (p.Met2376Thr) c.4637T>C (p.Met1546Thr) | gnomAD v4 |
10 | g.71806217T>G | CA377162378 | CDH23 | c.8114T>G (p.Met2705Arg) c.2047T>G (n.2047T>G) c.1711T>G (n.1711T>G) c.8129T>G (p.Met2710Arg) c.1394T>G (p.Met465Arg) n.1650T>G c.8309T>G (p.Met2770Arg) c.8243T>G (p.Met2748Arg) c.8306T>G (p.Met2769Arg) c.8303T>G (p.Met2768Arg) c.8249T>G (p.Met2750Arg) c.8219T>G (p.Met2740Arg) c.8174T>G (p.Met2725Arg) c.7769T>G (p.Met2590Arg) c.7127T>G (p.Met2376Arg) c.4637T>G (p.Met1546Arg) | |
10 | g.71806218G>A | CA377162379 | CDH23 | c.8115G>A (p.Met2705Ile) c.2048G>A (n.2048G>A) c.1712G>A (n.1712G>A) c.8130G>A (p.Met2710Ile) c.1395G>A (p.Met465Ile) n.1651G>A c.8310G>A (p.Met2770Ile) c.8244G>A (p.Met2748Ile) c.8307G>A (p.Met2769Ile) c.8304G>A (p.Met2768Ile) c.8250G>A (p.Met2750Ile) c.8220G>A (p.Met2740Ile) c.8175G>A (p.Met2725Ile) c.7770G>A (p.Met2590Ile) c.7128G>A (p.Met2376Ile) c.4638G>A (p.Met1546Ile) | gnomAD v4 |
10 | g.71806218G>C | CA377162380 | CDH23 | c.8115G>C (p.Met2705Ile) c.2048G>C (n.2048G>C) c.1712G>C (n.1712G>C) c.8130G>C (p.Met2710Ile) c.1395G>C (p.Met465Ile) n.1651G>C c.8310G>C (p.Met2770Ile) c.8244G>C (p.Met2748Ile) c.8307G>C (p.Met2769Ile) c.8304G>C (p.Met2768Ile) c.8250G>C (p.Met2750Ile) c.8220G>C (p.Met2740Ile) c.8175G>C (p.Met2725Ile) c.7770G>C (p.Met2590Ile) c.7128G>C (p.Met2376Ile) c.4638G>C (p.Met1546Ile) | |
10 | g.71806218G>T | CA377162381 | CDH23 | c.8115G>T (p.Met2705Ile) c.2048G>T (n.2048G>T) c.1712G>T (n.1712G>T) c.8130G>T (p.Met2710Ile) c.1395G>T (p.Met465Ile) n.1651G>T c.8310G>T (p.Met2770Ile) c.8244G>T (p.Met2748Ile) c.8307G>T (p.Met2769Ile) c.8304G>T (p.Met2768Ile) c.8250G>T (p.Met2750Ile) c.8220G>T (p.Met2740Ile) c.8175G>T (p.Met2725Ile) c.7770G>T (p.Met2590Ile) c.7128G>T (p.Met2376Ile) c.4638G>T (p.Met1546Ile) | gnomAD v4 |
10 | g.71806219C>A | CA377162382 | CDH23 | c.8116C>A (p.Gln2706Lys) c.2049C>A (n.2049C>A) c.1713C>A (n.1713C>A) c.8131C>A (p.Gln2711Lys) c.1396C>A (p.Gln466Lys) n.1652C>A c.8311C>A (p.Gln2771Lys) c.8245C>A (p.Gln2749Lys) c.8308C>A (p.Gln2770Lys) c.8305C>A (p.Gln2769Lys) c.8251C>A (p.Gln2751Lys) c.8221C>A (p.Gln2741Lys) c.8176C>A (p.Gln2726Lys) c.7771C>A (p.Gln2591Lys) c.7129C>A (p.Gln2377Lys) c.4639C>A (p.Gln1547Lys) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71806219C= | CA1918885002 | CDH23 | c.8116C= (p.Gln2706=) c.2049C= (n.2049C=) c.1713C= (n.1713C=) c.8131C= (p.Gln2711=) c.1396C= (p.Gln466=) n.1652C= c.8311C= (p.Gln2771=) c.8245C= (p.Gln2749=) c.8308C= (p.Gln2770=) c.8305C= (p.Gln2769=) c.8251C= (p.Gln2751=) c.8221C= (p.Gln2741=) c.8176C= (p.Gln2726=) c.7771C= (p.Gln2591=) c.7129C= (p.Gln2377=) c.4639C= (p.Gln1547=) | |
10 | g.71806219C>G | CA377162383 | CDH23 | c.8116C>G (p.Gln2706Glu) c.2049C>G (n.2049C>G) c.1713C>G (n.1713C>G) c.8131C>G (p.Gln2711Glu) c.1396C>G (p.Gln466Glu) n.1652C>G c.8311C>G (p.Gln2771Glu) c.8245C>G (p.Gln2749Glu) c.8308C>G (p.Gln2770Glu) c.8305C>G (p.Gln2769Glu) c.8251C>G (p.Gln2751Glu) c.8221C>G (p.Gln2741Glu) c.8176C>G (p.Gln2726Glu) c.7771C>G (p.Gln2591Glu) c.7129C>G (p.Gln2377Glu) c.4639C>G (p.Gln1547Glu) | |
10 | g.71806219C>T | CA209474422 | CDH23 | c.8116C>T (p.Gln2706Ter) c.2049C>T (n.2049C>T) c.1713C>T (n.1713C>T) c.8131C>T (p.Gln2711Ter) c.1396C>T (p.Gln466Ter) n.1652C>T c.8311C>T (p.Gln2771Ter) c.8245C>T (p.Gln2749Ter) c.8308C>T (p.Gln2770Ter) c.8305C>T (p.Gln2769Ter) c.8251C>T (p.Gln2751Ter) c.8221C>T (p.Gln2741Ter) c.8176C>T (p.Gln2726Ter) c.7771C>T (p.Gln2591Ter) c.7129C>T (p.Gln2377Ter) c.4639C>T (p.Gln1547Ter) | dbSNP gnomAD v4 |
10 | g.71806220A>C | CA377162385 | CDH23 | c.8117A>C (p.Gln2706Pro) c.2050A>C (n.2050A>C) c.1714A>C (n.1714A>C) c.8132A>C (p.Gln2711Pro) c.1397A>C (p.Gln466Pro) n.1653A>C c.8312A>C (p.Gln2771Pro) c.8246A>C (p.Gln2749Pro) c.8309A>C (p.Gln2770Pro) c.8306A>C (p.Gln2769Pro) c.8252A>C (p.Gln2751Pro) c.8222A>C (p.Gln2741Pro) c.8177A>C (p.Gln2726Pro) c.7772A>C (p.Gln2591Pro) c.7130A>C (p.Gln2377Pro) c.4640A>C (p.Gln1547Pro) | gnomAD v4 |
10 | g.71806220A>G | CA377162386 | CDH23 | c.8117A>G (p.Gln2706Arg) c.2050A>G (n.2050A>G) c.1714A>G (n.1714A>G) c.8132A>G (p.Gln2711Arg) c.1397A>G (p.Gln466Arg) n.1653A>G c.8312A>G (p.Gln2771Arg) c.8246A>G (p.Gln2749Arg) c.8309A>G (p.Gln2770Arg) c.8306A>G (p.Gln2769Arg) c.8252A>G (p.Gln2751Arg) c.8222A>G (p.Gln2741Arg) c.8177A>G (p.Gln2726Arg) c.7772A>G (p.Gln2591Arg) c.7130A>G (p.Gln2377Arg) c.4640A>G (p.Gln1547Arg) | gnomAD v4 |
10 | g.71806220A>T | CA377162384 | CDH23 | c.8117A>T (p.Gln2706Leu) c.2050A>T (n.2050A>T) c.1714A>T (n.1714A>T) c.8132A>T (p.Gln2711Leu) c.1397A>T (p.Gln466Leu) n.1653A>T c.8312A>T (p.Gln2771Leu) c.8246A>T (p.Gln2749Leu) c.8309A>T (p.Gln2770Leu) c.8306A>T (p.Gln2769Leu) c.8252A>T (p.Gln2751Leu) c.8222A>T (p.Gln2741Leu) c.8177A>T (p.Gln2726Leu) c.7772A>T (p.Gln2591Leu) c.7130A>T (p.Gln2377Leu) c.4640A>T (p.Gln1547Leu) | ClinVar gnomAD v4 |
10 | g.71806221G>A | CA470282248 | CDH23 | c.8118G>A (p.Gln2706=) c.2051G>A (n.2051G>A) c.1715G>A (n.1715G>A) c.8133G>A (p.Gln2711=) c.1398G>A (p.Gln466=) n.1654G>A c.8313G>A (p.Gln2771=) c.8247G>A (p.Gln2749=) c.8310G>A (p.Gln2770=) c.8307G>A (p.Gln2769=) c.8253G>A (p.Gln2751=) c.8223G>A (p.Gln2741=) c.8178G>A (p.Gln2726=) c.7773G>A (p.Gln2591=) c.7131G>A (p.Gln2377=) c.4641G>A (p.Gln1547=) | gnomAD v4 |
10 | g.71806221G>C | CA377162388 | CDH23 | c.8118G>C (p.Gln2706His) c.2051G>C (n.2051G>C) c.1715G>C (n.1715G>C) c.8133G>C (p.Gln2711His) c.1398G>C (p.Gln466His) n.1654G>C c.8313G>C (p.Gln2771His) c.8247G>C (p.Gln2749His) c.8310G>C (p.Gln2770His) c.8307G>C (p.Gln2769His) c.8253G>C (p.Gln2751His) c.8223G>C (p.Gln2741His) c.8178G>C (p.Gln2726His) c.7773G>C (p.Gln2591His) c.7131G>C (p.Gln2377His) c.4641G>C (p.Gln1547His) | |
10 | g.71806221G>T | CA377162387 | CDH23 | c.8118G>T (p.Gln2706His) c.2051G>T (n.2051G>T) c.1715G>T (n.1715G>T) c.8133G>T (p.Gln2711His) c.1398G>T (p.Gln466His) n.1654G>T c.8313G>T (p.Gln2771His) c.8247G>T (p.Gln2749His) c.8310G>T (p.Gln2770His) c.8307G>T (p.Gln2769His) c.8253G>T (p.Gln2751His) c.8223G>T (p.Gln2741His) c.8178G>T (p.Gln2726His) c.7773G>T (p.Gln2591His) c.7131G>T (p.Gln2377His) c.4641G>T (p.Gln1547His) | gnomAD v4 |
10 | g.71806222C>A | CA377162389 | CDH23 | c.8119C>A (p.Pro2707Thr) c.2052C>A (n.2052C>A) c.1716C>A (n.1716C>A) c.8134C>A (p.Pro2712Thr) c.1399C>A (p.Pro467Thr) n.1655C>A c.8314C>A (p.Pro2772Thr) c.8248C>A (p.Pro2750Thr) c.8311C>A (p.Pro2771Thr) c.8308C>A (p.Pro2770Thr) c.8254C>A (p.Pro2752Thr) c.8224C>A (p.Pro2742Thr) c.8179C>A (p.Pro2727Thr) c.7774C>A (p.Pro2592Thr) c.7132C>A (p.Pro2378Thr) c.4642C>A (p.Pro1548Thr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71806222C= | CA1918885005 | CDH23 | c.8119C= (p.Pro2707=) c.2052C= (n.2052C=) c.1716C= (n.1716C=) c.8134C= (p.Pro2712=) c.1399C= (p.Pro467=) n.1655C= c.8314C= (p.Pro2772=) c.8248C= (p.Pro2750=) c.8311C= (p.Pro2771=) c.8308C= (p.Pro2770=) c.8254C= (p.Pro2752=) c.8224C= (p.Pro2742=) c.8179C= (p.Pro2727=) c.7774C= (p.Pro2592=) c.7132C= (p.Pro2378=) c.4642C= (p.Pro1548=) | |
10 | g.71806222C>G | CA5546552 | CDH23 | c.8119C>G (p.Pro2707Ala) c.2052C>G (n.2052C>G) c.1716C>G (n.1716C>G) c.8134C>G (p.Pro2712Ala) c.1399C>G (p.Pro467Ala) n.1655C>G c.8314C>G (p.Pro2772Ala) c.8248C>G (p.Pro2750Ala) c.8311C>G (p.Pro2771Ala) c.8308C>G (p.Pro2770Ala) c.8254C>G (p.Pro2752Ala) c.8224C>G (p.Pro2742Ala) c.8179C>G (p.Pro2727Ala) c.7774C>G (p.Pro2592Ala) c.7132C>G (p.Pro2378Ala) c.4642C>G (p.Pro1548Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71806222C>T | CA209474429 | CDH23 | c.8119C>T (p.Pro2707Ser) c.2052C>T (n.2052C>T) c.1716C>T (n.1716C>T) c.8134C>T (p.Pro2712Ser) c.1399C>T (p.Pro467Ser) n.1655C>T c.8314C>T (p.Pro2772Ser) c.8248C>T (p.Pro2750Ser) c.8311C>T (p.Pro2771Ser) c.8308C>T (p.Pro2770Ser) c.8254C>T (p.Pro2752Ser) c.8224C>T (p.Pro2742Ser) c.8179C>T (p.Pro2727Ser) c.7774C>T (p.Pro2592Ser) c.7132C>T (p.Pro2378Ser) c.4642C>T (p.Pro1548Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806223C>A | CA377162390 | CDH23 | c.8120C>A (p.Pro2707Gln) c.2053C>A (n.2053C>A) c.1717C>A (n.1717C>A) c.8135C>A (p.Pro2712Gln) c.1400C>A (p.Pro467Gln) n.1656C>A c.8315C>A (p.Pro2772Gln) c.8249C>A (p.Pro2750Gln) c.8312C>A (p.Pro2771Gln) c.8309C>A (p.Pro2770Gln) c.8255C>A (p.Pro2752Gln) c.8225C>A (p.Pro2742Gln) c.8180C>A (p.Pro2727Gln) c.7775C>A (p.Pro2592Gln) c.7133C>A (p.Pro2378Gln) c.4643C>A (p.Pro1548Gln) | gnomAD v4 |
10 | g.71806223C= | CA1918885013 | CDH23 | c.8120C= (p.Pro2707=) c.2053C= (n.2053C=) c.1717C= (n.1717C=) c.8135C= (p.Pro2712=) c.1400C= (p.Pro467=) n.1656C= c.8315C= (p.Pro2772=) c.8249C= (p.Pro2750=) c.8312C= (p.Pro2771=) c.8309C= (p.Pro2770=) c.8255C= (p.Pro2752=) c.8225C= (p.Pro2742=) c.8180C= (p.Pro2727=) c.7775C= (p.Pro2592=) c.7133C= (p.Pro2378=) c.4643C= (p.Pro1548=) | |
10 | g.71806223C>G | CA209474435 | CDH23 | c.8120C>G (p.Pro2707Arg) c.2053C>G (n.2053C>G) c.1717C>G (n.1717C>G) c.8135C>G (p.Pro2712Arg) c.1400C>G (p.Pro467Arg) n.1656C>G c.8315C>G (p.Pro2772Arg) c.8249C>G (p.Pro2750Arg) c.8312C>G (p.Pro2771Arg) c.8309C>G (p.Pro2770Arg) c.8255C>G (p.Pro2752Arg) c.8225C>G (p.Pro2742Arg) c.8180C>G (p.Pro2727Arg) c.7775C>G (p.Pro2592Arg) c.7133C>G (p.Pro2378Arg) c.4643C>G (p.Pro1548Arg) | dbSNP |
10 | g.71806223C>T | CA5546553 | CDH23 | c.8120C>T (p.Pro2707Leu) c.2053C>T (n.2053C>T) c.1717C>T (n.1717C>T) c.8135C>T (p.Pro2712Leu) c.1400C>T (p.Pro467Leu) n.1656C>T c.8315C>T (p.Pro2772Leu) c.8249C>T (p.Pro2750Leu) c.8312C>T (p.Pro2771Leu) c.8309C>T (p.Pro2770Leu) c.8255C>T (p.Pro2752Leu) c.8225C>T (p.Pro2742Leu) c.8180C>T (p.Pro2727Leu) c.7775C>T (p.Pro2592Leu) c.7133C>T (p.Pro2378Leu) c.4643C>T (p.Pro1548Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806223_71806224delinsCG | CA1918885010 | CDH23 | c.8120_8121delinsCG (p.Pro2707=) c.2053_2054delinsCG (n.2053_2054delinsCG) c.1717_1718delinsCG (n.1717_1718delinsCG) c.8135_8136delinsCG (p.Pro2712=) c.1400_1401delinsCG (p.Pro467=) n.1656_1657delinsCG c.8315_8316delinsCG (p.Pro2772=) c.8249_8250delinsCG (p.Pro2750=) c.8312_8313delinsCG (p.Pro2771=) c.8309_8310delinsCG (p.Pro2770=) c.8255_8256delinsCG (p.Pro2752=) c.8225_8226delinsCG (p.Pro2742=) c.8180_8181delinsCG (p.Pro2727=) c.7775_7776delinsCG (p.Pro2592=) c.7133_7134delinsCG (p.Pro2378=) c.4643_4644delinsCG (p.Pro1548=) | |
10 | g.71806223_71806224delinsTT | CA10576818 | CDH23 | c.8120_8121delinsTT (p.Pro2707Leu) c.2053_2054delinsTT (n.2053_2054delinsTT) c.1717_1718delinsTT (n.1717_1718delinsTT) c.8135_8136delinsTT (p.Pro2712Leu) c.1400_1401delinsTT (p.Pro467Leu) n.1656_1657delinsTT c.8315_8316delinsTT (p.Pro2772Leu) c.8249_8250delinsTT (p.Pro2750Leu) c.8312_8313delinsTT (p.Pro2771Leu) c.8309_8310delinsTT (p.Pro2770Leu) c.8255_8256delinsTT (p.Pro2752Leu) c.8225_8226delinsTT (p.Pro2742Leu) c.8180_8181delinsTT (p.Pro2727Leu) c.7775_7776delinsTT (p.Pro2592Leu) c.7133_7134delinsTT (p.Pro2378Leu) c.4643_4644delinsTT (p.Pro1548Leu) | ClinVar dbSNP |
10 | g.71806224G>A | CA5546555 | CDH23 | c.8121G>A (p.Pro2707=) c.2054G>A (n.2054G>A) c.1718G>A (n.1718G>A) c.8136G>A (p.Pro2712=) c.1401G>A (p.Pro467=) n.1657G>A c.8316G>A (p.Pro2772=) c.8250G>A (p.Pro2750=) c.8313G>A (p.Pro2771=) c.8310G>A (p.Pro2770=) c.8256G>A (p.Pro2752=) c.8226G>A (p.Pro2742=) c.8181G>A (p.Pro2727=) c.7776G>A (p.Pro2592=) c.7134G>A (p.Pro2378=) c.4644G>A (p.Pro1548=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806224G>C | CA470282252 | CDH23 | c.8121G>C (p.Pro2707=) c.2054G>C (n.2054G>C) c.1718G>C (n.1718G>C) c.8136G>C (p.Pro2712=) c.1401G>C (p.Pro467=) n.1657G>C c.8316G>C (p.Pro2772=) c.8250G>C (p.Pro2750=) c.8313G>C (p.Pro2771=) c.8310G>C (p.Pro2770=) c.8256G>C (p.Pro2752=) c.8226G>C (p.Pro2742=) c.8181G>C (p.Pro2727=) c.7776G>C (p.Pro2592=) c.7134G>C (p.Pro2378=) c.4644G>C (p.Pro1548=) | |
10 | g.71806224G= | CA1918885017 | CDH23 | c.8121G= (p.Pro2707=) c.2054G= (n.2054G=) c.1718G= (n.1718G=) c.8136G= (p.Pro2712=) c.1401G= (p.Pro467=) n.1657G= c.8316G= (p.Pro2772=) c.8250G= (p.Pro2750=) c.8313G= (p.Pro2771=) c.8310G= (p.Pro2770=) c.8256G= (p.Pro2752=) c.8226G= (p.Pro2742=) c.8181G= (p.Pro2727=) c.7776G= (p.Pro2592=) c.7134G= (p.Pro2378=) c.4644G= (p.Pro1548=) | |
10 | g.71806224G>T | CA5546554 | CDH23 | c.8121G>T (p.Pro2707=) c.2054G>T (n.2054G>T) c.1718G>T (n.1718G>T) c.8136G>T (p.Pro2712=) c.1401G>T (p.Pro467=) n.1657G>T c.8316G>T (p.Pro2772=) c.8250G>T (p.Pro2750=) c.8313G>T (p.Pro2771=) c.8310G>T (p.Pro2770=) c.8256G>T (p.Pro2752=) c.8226G>T (p.Pro2742=) c.8181G>T (p.Pro2727=) c.7776G>T (p.Pro2592=) c.7134G>T (p.Pro2378=) c.4644G>T (p.Pro1548=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806225C>A | CA377162391 | CDH23 | c.8122C>A (p.Leu2708Met) c.2055C>A (n.2055C>A) c.1719C>A (n.1719C>A) c.8137C>A (p.Leu2713Met) c.1402C>A (p.Leu468Met) n.1658C>A c.8317C>A (p.Leu2773Met) c.8251C>A (p.Leu2751Met) c.8314C>A (p.Leu2772Met) c.8311C>A (p.Leu2771Met) c.8257C>A (p.Leu2753Met) c.8227C>A (p.Leu2743Met) c.8182C>A (p.Leu2728Met) c.7777C>A (p.Leu2593Met) c.7135C>A (p.Leu2379Met) c.4645C>A (p.Leu1549Met) | dbSNP gnomAD v4 |
10 | g.71806225C= | CA1918885021 | CDH23 | c.8122C= (p.Leu2708=) c.2055C= (n.2055C=) c.1719C= (n.1719C=) c.8137C= (p.Leu2713=) c.1402C= (p.Leu468=) n.1658C= c.8317C= (p.Leu2773=) c.8251C= (p.Leu2751=) c.8314C= (p.Leu2772=) c.8311C= (p.Leu2771=) c.8257C= (p.Leu2753=) c.8227C= (p.Leu2743=) c.8182C= (p.Leu2728=) c.7777C= (p.Leu2593=) c.7135C= (p.Leu2379=) c.4645C= (p.Leu1549=) | |
10 | g.71806225C>G | CA377162392 | CDH23 | c.8122C>G (p.Leu2708Val) c.2055C>G (n.2055C>G) c.1719C>G (n.1719C>G) c.8137C>G (p.Leu2713Val) c.1402C>G (p.Leu468Val) n.1658C>G c.8317C>G (p.Leu2773Val) c.8251C>G (p.Leu2751Val) c.8314C>G (p.Leu2772Val) c.8311C>G (p.Leu2771Val) c.8257C>G (p.Leu2753Val) c.8227C>G (p.Leu2743Val) c.8182C>G (p.Leu2728Val) c.7777C>G (p.Leu2593Val) c.7135C>G (p.Leu2379Val) c.4645C>G (p.Leu1549Val) | |
10 | g.71806225C>T | CA470282253 | CDH23 | c.8122C>T (p.Leu2708=) c.2055C>T (n.2055C>T) c.1719C>T (n.1719C>T) c.8137C>T (p.Leu2713=) c.1402C>T (p.Leu468=) n.1658C>T c.8317C>T (p.Leu2773=) c.8251C>T (p.Leu2751=) c.8314C>T (p.Leu2772=) c.8311C>T (p.Leu2771=) c.8257C>T (p.Leu2753=) c.8227C>T (p.Leu2743=) c.8182C>T (p.Leu2728=) c.7777C>T (p.Leu2593=) c.7135C>T (p.Leu2379=) c.4645C>T (p.Leu1549=) | gnomAD v4 |
10 | g.71806226T>A | CA377162395 | CDH23 | c.8123T>A (p.Leu2708Gln) c.2056T>A (n.2056T>A) c.1720T>A (n.1720T>A) c.8138T>A (p.Leu2713Gln) c.1403T>A (p.Leu468Gln) n.1659T>A c.8318T>A (p.Leu2773Gln) c.8252T>A (p.Leu2751Gln) c.8315T>A (p.Leu2772Gln) c.8312T>A (p.Leu2771Gln) c.8258T>A (p.Leu2753Gln) c.8228T>A (p.Leu2743Gln) c.8183T>A (p.Leu2728Gln) c.7778T>A (p.Leu2593Gln) c.7136T>A (p.Leu2379Gln) c.4646T>A (p.Leu1549Gln) | dbSNP gnomAD v4 |
10 | g.71806226T>C | CA377162393 | CDH23 | c.8123T>C (p.Leu2708Pro) c.2056T>C (n.2056T>C) c.1720T>C (n.1720T>C) c.8138T>C (p.Leu2713Pro) c.1403T>C (p.Leu468Pro) n.1659T>C c.8318T>C (p.Leu2773Pro) c.8252T>C (p.Leu2751Pro) c.8315T>C (p.Leu2772Pro) c.8312T>C (p.Leu2771Pro) c.8258T>C (p.Leu2753Pro) c.8228T>C (p.Leu2743Pro) c.8183T>C (p.Leu2728Pro) c.7778T>C (p.Leu2593Pro) c.7136T>C (p.Leu2379Pro) c.4646T>C (p.Leu1549Pro) | dbSNP gnomAD v4 COSMIC |
10 | g.71806226T>G | CA377162394 | CDH23 | c.8123T>G (p.Leu2708Arg) c.2056T>G (n.2056T>G) c.1720T>G (n.1720T>G) c.8138T>G (p.Leu2713Arg) c.1403T>G (p.Leu468Arg) n.1659T>G c.8318T>G (p.Leu2773Arg) c.8252T>G (p.Leu2751Arg) c.8315T>G (p.Leu2772Arg) c.8312T>G (p.Leu2771Arg) c.8258T>G (p.Leu2753Arg) c.8228T>G (p.Leu2743Arg) c.8183T>G (p.Leu2728Arg) c.7778T>G (p.Leu2593Arg) c.7136T>G (p.Leu2379Arg) c.4646T>G (p.Leu1549Arg) | |
10 | g.71806226T= | CA1918885024 | CDH23 | c.8123T= (p.Leu2708=) c.2056T= (n.2056T=) c.1720T= (n.1720T=) c.8138T= (p.Leu2713=) c.1403T= (p.Leu468=) n.1659T= c.8318T= (p.Leu2773=) c.8252T= (p.Leu2751=) c.8315T= (p.Leu2772=) c.8312T= (p.Leu2771=) c.8258T= (p.Leu2753=) c.8228T= (p.Leu2743=) c.8183T= (p.Leu2728=) c.7778T= (p.Leu2593=) c.7136T= (p.Leu2379=) c.4646T= (p.Leu1549=) | |
10 | g.71806227G>A | CA470282254 | CDH23 | c.8124G>A (p.Leu2708=) c.2057G>A (n.2057G>A) c.1721G>A (n.1721G>A) c.8139G>A (p.Leu2713=) c.1404G>A (p.Leu468=) n.1660G>A c.8319G>A (p.Leu2773=) c.8253G>A (p.Leu2751=) c.8316G>A (p.Leu2772=) c.8313G>A (p.Leu2771=) c.8259G>A (p.Leu2753=) c.8229G>A (p.Leu2743=) c.8184G>A (p.Leu2728=) c.7779G>A (p.Leu2593=) c.7137G>A (p.Leu2379=) c.4647G>A (p.Leu1549=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806227G>C | CA470282255 | CDH23 | c.8124G>C (p.Leu2708=) c.2057G>C (n.2057G>C) c.1721G>C (n.1721G>C) c.8139G>C (p.Leu2713=) c.1404G>C (p.Leu468=) n.1660G>C c.8319G>C (p.Leu2773=) c.8253G>C (p.Leu2751=) c.8316G>C (p.Leu2772=) c.8313G>C (p.Leu2771=) c.8259G>C (p.Leu2753=) c.8229G>C (p.Leu2743=) c.8184G>C (p.Leu2728=) c.7779G>C (p.Leu2593=) c.7137G>C (p.Leu2379=) c.4647G>C (p.Leu1549=) | |
10 | g.71806227G= | CA1918885027 | CDH23 | c.8124G= (p.Leu2708=) c.2057G= (n.2057G=) c.1721G= (n.1721G=) c.8139G= (p.Leu2713=) c.1404G= (p.Leu468=) n.1660G= c.8319G= (p.Leu2773=) c.8253G= (p.Leu2751=) c.8316G= (p.Leu2772=) c.8313G= (p.Leu2771=) c.8259G= (p.Leu2753=) c.8229G= (p.Leu2743=) c.8184G= (p.Leu2728=) c.7779G= (p.Leu2593=) c.7137G= (p.Leu2379=) c.4647G= (p.Leu1549=) | |
10 | g.71806227G>T | CA470282256 | CDH23 | c.8124G>T (p.Leu2708=) c.2057G>T (n.2057G>T) c.1721G>T (n.1721G>T) c.8139G>T (p.Leu2713=) c.1404G>T (p.Leu468=) n.1660G>T c.8319G>T (p.Leu2773=) c.8253G>T (p.Leu2751=) c.8316G>T (p.Leu2772=) c.8313G>T (p.Leu2771=) c.8259G>T (p.Leu2753=) c.8229G>T (p.Leu2743=) c.8184G>T (p.Leu2728=) c.7779G>T (p.Leu2593=) c.7137G>T (p.Leu2379=) c.4647G>T (p.Leu1549=) | ClinVar dbSNP gnomAD v4 |
10 | g.71806228C>A | CA377162396 | CDH23 | c.8125C>A (p.Gln2709Lys) c.2058C>A (n.2058C>A) c.1722C>A (n.1722C>A) c.8140C>A (p.Gln2714Lys) c.1405C>A (p.Gln469Lys) n.1661C>A c.8320C>A (p.Gln2774Lys) c.8254C>A (p.Gln2752Lys) c.8317C>A (p.Gln2773Lys) c.8314C>A (p.Gln2772Lys) c.8260C>A (p.Gln2754Lys) c.8230C>A (p.Gln2744Lys) c.8185C>A (p.Gln2729Lys) c.7780C>A (p.Gln2594Lys) c.7138C>A (p.Gln2380Lys) c.4648C>A (p.Gln1550Lys) | gnomAD v4 |
10 | g.71806228C>G | CA377162397 | CDH23 | c.8125C>G (p.Gln2709Glu) c.2058C>G (n.2058C>G) c.1722C>G (n.1722C>G) c.8140C>G (p.Gln2714Glu) c.1405C>G (p.Gln469Glu) n.1661C>G c.8320C>G (p.Gln2774Glu) c.8254C>G (p.Gln2752Glu) c.8317C>G (p.Gln2773Glu) c.8314C>G (p.Gln2772Glu) c.8260C>G (p.Gln2754Glu) c.8230C>G (p.Gln2744Glu) c.8185C>G (p.Gln2729Glu) c.7780C>G (p.Gln2594Glu) c.7138C>G (p.Gln2380Glu) c.4648C>G (p.Gln1550Glu) | |
10 | g.71806228C>T | CA377162398 | CDH23 | c.8125C>T (p.Gln2709Ter) c.2058C>T (n.2058C>T) c.1722C>T (n.1722C>T) c.8140C>T (p.Gln2714Ter) c.1405C>T (p.Gln469Ter) n.1661C>T c.8320C>T (p.Gln2774Ter) c.8254C>T (p.Gln2752Ter) c.8317C>T (p.Gln2773Ter) c.8314C>T (p.Gln2772Ter) c.8260C>T (p.Gln2754Ter) c.8230C>T (p.Gln2744Ter) c.8185C>T (p.Gln2729Ter) c.7780C>T (p.Gln2594Ter) c.7138C>T (p.Gln2380Ter) c.4648C>T (p.Gln1550Ter) | dbSNP gnomAD v4 |
10 | g.71806229A= | CA1918885028 | CDH23 | c.8126A= (p.Gln2709=) c.2059A= (n.2059A=) c.1723A= (n.1723A=) c.8141A= (p.Gln2714=) c.1406A= (p.Gln469=) n.1662A= c.8321A= (p.Gln2774=) c.8255A= (p.Gln2752=) c.8318A= (p.Gln2773=) c.8315A= (p.Gln2772=) c.8261A= (p.Gln2754=) c.8231A= (p.Gln2744=) c.8186A= (p.Gln2729=) c.7781A= (p.Gln2594=) c.7139A= (p.Gln2380=) c.4649A= (p.Gln1550=) | |
10 | g.71806229A>C | CA377162399 | CDH23 | c.8126A>C (p.Gln2709Pro) c.2059A>C (n.2059A>C) c.1723A>C (n.1723A>C) c.8141A>C (p.Gln2714Pro) c.1406A>C (p.Gln469Pro) n.1662A>C c.8321A>C (p.Gln2774Pro) c.8255A>C (p.Gln2752Pro) c.8318A>C (p.Gln2773Pro) c.8315A>C (p.Gln2772Pro) c.8261A>C (p.Gln2754Pro) c.8231A>C (p.Gln2744Pro) c.8186A>C (p.Gln2729Pro) c.7781A>C (p.Gln2594Pro) c.7139A>C (p.Gln2380Pro) c.4649A>C (p.Gln1550Pro) | |
10 | g.71806229A>G | CA377162400 | CDH23 | c.8126A>G (p.Gln2709Arg) c.2059A>G (n.2059A>G) c.1723A>G (n.1723A>G) c.8141A>G (p.Gln2714Arg) c.1406A>G (p.Gln469Arg) n.1662A>G c.8321A>G (p.Gln2774Arg) c.8255A>G (p.Gln2752Arg) c.8318A>G (p.Gln2773Arg) c.8315A>G (p.Gln2772Arg) c.8261A>G (p.Gln2754Arg) c.8231A>G (p.Gln2744Arg) c.8186A>G (p.Gln2729Arg) c.7781A>G (p.Gln2594Arg) c.7139A>G (p.Gln2380Arg) c.4649A>G (p.Gln1550Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806229A>T | CA377162401 | CDH23 | c.8126A>T (p.Gln2709Leu) c.2059A>T (n.2059A>T) c.1723A>T (n.1723A>T) c.8141A>T (p.Gln2714Leu) c.1406A>T (p.Gln469Leu) n.1662A>T c.8321A>T (p.Gln2774Leu) c.8255A>T (p.Gln2752Leu) c.8318A>T (p.Gln2773Leu) c.8315A>T (p.Gln2772Leu) c.8261A>T (p.Gln2754Leu) c.8231A>T (p.Gln2744Leu) c.8186A>T (p.Gln2729Leu) c.7781A>T (p.Gln2594Leu) c.7139A>T (p.Gln2380Leu) c.4649A>T (p.Gln1550Leu) | gnomAD v4 |
10 | g.71806230G>A | CA470282259 | CDH23 | c.8127G>A (p.Gln2709=) c.2060G>A (n.2060G>A) c.1724G>A (n.1724G>A) c.8142G>A (p.Gln2714=) c.1407G>A (p.Gln469=) n.1663G>A c.8322G>A (p.Gln2774=) c.8256G>A (p.Gln2752=) c.8319G>A (p.Gln2773=) c.8316G>A (p.Gln2772=) c.8262G>A (p.Gln2754=) c.8232G>A (p.Gln2744=) c.8187G>A (p.Gln2729=) c.7782G>A (p.Gln2594=) c.7140G>A (p.Gln2380=) c.4650G>A (p.Gln1550=) | gnomAD v4 |
10 | g.71806230G>C | CA377162402 | CDH23 | c.8127G>C (p.Gln2709His) c.2060G>C (n.2060G>C) c.1724G>C (n.1724G>C) c.8142G>C (p.Gln2714His) c.1407G>C (p.Gln469His) n.1663G>C c.8322G>C (p.Gln2774His) c.8256G>C (p.Gln2752His) c.8319G>C (p.Gln2773His) c.8316G>C (p.Gln2772His) c.8262G>C (p.Gln2754His) c.8232G>C (p.Gln2744His) c.8187G>C (p.Gln2729His) c.7782G>C (p.Gln2594His) c.7140G>C (p.Gln2380His) c.4650G>C (p.Gln1550His) | |
10 | g.71806230G>T | CA377162403 | CDH23 | c.8127G>T (p.Gln2709His) c.2060G>T (n.2060G>T) c.1724G>T (n.1724G>T) c.8142G>T (p.Gln2714His) c.1407G>T (p.Gln469His) n.1663G>T c.8322G>T (p.Gln2774His) c.8256G>T (p.Gln2752His) c.8319G>T (p.Gln2773His) c.8316G>T (p.Gln2772His) c.8262G>T (p.Gln2754His) c.8232G>T (p.Gln2744His) c.8187G>T (p.Gln2729His) c.7782G>T (p.Gln2594His) c.7140G>T (p.Gln2380His) c.4650G>T (p.Gln1550His) | gnomAD v4 |
10 | g.71806231G>A | CA377162404 | CDH23 | c.8128G>A (p.Val2710Met) c.2061G>A (n.2061G>A) c.1725G>A (n.1725G>A) c.8143G>A (p.Val2715Met) c.1408G>A (p.Val470Met) n.1664G>A c.8323G>A (p.Val2775Met) c.8257G>A (p.Val2753Met) c.8320G>A (p.Val2774Met) c.8317G>A (p.Val2773Met) c.8263G>A (p.Val2755Met) c.8233G>A (p.Val2745Met) c.8188G>A (p.Val2730Met) c.7783G>A (p.Val2595Met) c.7141G>A (p.Val2381Met) c.4651G>A (p.Val1551Met) | gnomAD v4 |
10 | g.71806231G>C | CA209474441 | CDH23 | c.8128G>C (p.Val2710Leu) c.2061G>C (n.2061G>C) c.1725G>C (n.1725G>C) c.8143G>C (p.Val2715Leu) c.1408G>C (p.Val470Leu) n.1664G>C c.8323G>C (p.Val2775Leu) c.8257G>C (p.Val2753Leu) c.8320G>C (p.Val2774Leu) c.8317G>C (p.Val2773Leu) c.8263G>C (p.Val2755Leu) c.8233G>C (p.Val2745Leu) c.8188G>C (p.Val2730Leu) c.7783G>C (p.Val2595Leu) c.7141G>C (p.Val2381Leu) c.4651G>C (p.Val1551Leu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806231G= | CA1918885029 | CDH23 | c.8128G= (p.Val2710=) c.2061G= (n.2061G=) c.1725G= (n.1725G=) c.8143G= (p.Val2715=) c.1408G= (p.Val470=) n.1664G= c.8323G= (p.Val2775=) c.8257G= (p.Val2753=) c.8320G= (p.Val2774=) c.8317G= (p.Val2773=) c.8263G= (p.Val2755=) c.8233G= (p.Val2745=) c.8188G= (p.Val2730=) c.7783G= (p.Val2595=) c.7141G= (p.Val2381=) c.4651G= (p.Val1551=) | |
10 | g.71806231G>T | CA377162405 | CDH23 | c.8128G>T (p.Val2710Leu) c.2061G>T (n.2061G>T) c.1725G>T (n.1725G>T) c.8143G>T (p.Val2715Leu) c.1408G>T (p.Val470Leu) n.1664G>T c.8323G>T (p.Val2775Leu) c.8257G>T (p.Val2753Leu) c.8320G>T (p.Val2774Leu) c.8317G>T (p.Val2773Leu) c.8263G>T (p.Val2755Leu) c.8233G>T (p.Val2745Leu) c.8188G>T (p.Val2730Leu) c.7783G>T (p.Val2595Leu) c.7141G>T (p.Val2381Leu) c.4651G>T (p.Val1551Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806232T>A | CA377162407 | CDH23 | c.8129T>A (p.Val2710Glu) c.2062T>A (n.2062T>A) c.1726T>A (n.1726T>A) c.8144T>A (p.Val2715Glu) c.1409T>A (p.Val470Glu) n.1665T>A c.8324T>A (p.Val2775Glu) c.8258T>A (p.Val2753Glu) c.8321T>A (p.Val2774Glu) c.8318T>A (p.Val2773Glu) c.8264T>A (p.Val2755Glu) c.8234T>A (p.Val2745Glu) c.8189T>A (p.Val2730Glu) c.7784T>A (p.Val2595Glu) c.7142T>A (p.Val2381Glu) c.4652T>A (p.Val1551Glu) | gnomAD v4 |
10 | g.71806232T>C | CA377162408 | CDH23 | c.8129T>C (p.Val2710Ala) c.2062T>C (n.2062T>C) c.1726T>C (n.1726T>C) c.8144T>C (p.Val2715Ala) c.1409T>C (p.Val470Ala) n.1665T>C c.8324T>C (p.Val2775Ala) c.8258T>C (p.Val2753Ala) c.8321T>C (p.Val2774Ala) c.8318T>C (p.Val2773Ala) c.8264T>C (p.Val2755Ala) c.8234T>C (p.Val2745Ala) c.8189T>C (p.Val2730Ala) c.7784T>C (p.Val2595Ala) c.7142T>C (p.Val2381Ala) c.4652T>C (p.Val1551Ala) | |
10 | g.71806232T>G | CA377162406 | CDH23 | c.8129T>G (p.Val2710Gly) c.2062T>G (n.2062T>G) c.1726T>G (n.1726T>G) c.8144T>G (p.Val2715Gly) c.1409T>G (p.Val470Gly) n.1665T>G c.8324T>G (p.Val2775Gly) c.8258T>G (p.Val2753Gly) c.8321T>G (p.Val2774Gly) c.8318T>G (p.Val2773Gly) c.8264T>G (p.Val2755Gly) c.8234T>G (p.Val2745Gly) c.8189T>G (p.Val2730Gly) c.7784T>G (p.Val2595Gly) c.7142T>G (p.Val2381Gly) c.4652T>G (p.Val1551Gly) | dbSNP |
10 | g.71806232T= | CA1918885031 | CDH23 | c.8129T= (p.Val2710=) c.2062T= (n.2062T=) c.1726T= (n.1726T=) c.8144T= (p.Val2715=) c.1409T= (p.Val470=) n.1665T= c.8324T= (p.Val2775=) c.8258T= (p.Val2753=) c.8321T= (p.Val2774=) c.8318T= (p.Val2773=) c.8264T= (p.Val2755=) c.8234T= (p.Val2745=) c.8189T= (p.Val2730=) c.7784T= (p.Val2595=) c.7142T= (p.Val2381=) c.4652T= (p.Val1551=) | |
10 | g.71806233G>A | CA470063380 | CDH23 | c.8130G>A (p.Val2710=) c.2063G>A (n.2063G>A) c.1727G>A (n.1727G>A) c.8145G>A (p.Val2715=) c.1410G>A (p.Val470=) n.1666G>A c.8325G>A (p.Val2775=) c.8259G>A (p.Val2753=) c.8322G>A (p.Val2774=) c.8319G>A (p.Val2773=) c.8265G>A (p.Val2755=) c.8235G>A (p.Val2745=) c.8190G>A (p.Val2730=) c.7785G>A (p.Val2595=) c.7143G>A (p.Val2381=) c.4653G>A (p.Val1551=) | gnomAD v4 |
10 | g.71806233G>C | CA470063382 | CDH23 | c.8130G>C (p.Val2710=) c.2063G>C (n.2063G>C) c.1727G>C (n.1727G>C) c.8145G>C (p.Val2715=) c.1410G>C (p.Val470=) n.1666G>C c.8325G>C (p.Val2775=) c.8259G>C (p.Val2753=) c.8322G>C (p.Val2774=) c.8319G>C (p.Val2773=) c.8265G>C (p.Val2755=) c.8235G>C (p.Val2745=) c.8190G>C (p.Val2730=) c.7785G>C (p.Val2595=) c.7143G>C (p.Val2381=) c.4653G>C (p.Val1551=) | |
10 | g.71806233G>T | CA470063383 | CDH23 | c.8130G>T (p.Val2710=) c.2063G>T (n.2063G>T) c.1727G>T (n.1727G>T) c.8145G>T (p.Val2715=) c.1410G>T (p.Val470=) n.1666G>T c.8325G>T (p.Val2775=) c.8259G>T (p.Val2753=) c.8322G>T (p.Val2774=) c.8319G>T (p.Val2773=) c.8265G>T (p.Val2755=) c.8235G>T (p.Val2745=) c.8190G>T (p.Val2730=) c.7785G>T (p.Val2595=) c.7143G>T (p.Val2381=) c.4653G>T (p.Val1551=) | gnomAD v4 |
10 | g.71806234G>A | CA377162409 | CDH23 | c.8131G>A (p.Ala2711Thr) c.2064G>A (n.2064G>A) c.1728G>A (n.1728G>A) c.8146G>A (p.Ala2716Thr) c.1411G>A (p.Ala471Thr) n.1667G>A c.8326G>A (p.Ala2776Thr) c.8260G>A (p.Ala2754Thr) c.8323G>A (p.Ala2775Thr) c.8320G>A (p.Ala2774Thr) c.8266G>A (p.Ala2756Thr) c.8236G>A (p.Ala2746Thr) c.8191G>A (p.Ala2731Thr) c.7786G>A (p.Ala2596Thr) c.7144G>A (p.Ala2382Thr) c.4654G>A (p.Ala1552Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806234G>C | CA377162410 | CDH23 | c.8131G>C (p.Ala2711Pro) c.2064G>C (n.2064G>C) c.1728G>C (n.1728G>C) c.8146G>C (p.Ala2716Pro) c.1411G>C (p.Ala471Pro) n.1667G>C c.8326G>C (p.Ala2776Pro) c.8260G>C (p.Ala2754Pro) c.8323G>C (p.Ala2775Pro) c.8320G>C (p.Ala2774Pro) c.8266G>C (p.Ala2756Pro) c.8236G>C (p.Ala2746Pro) c.8191G>C (p.Ala2731Pro) c.7786G>C (p.Ala2596Pro) c.7144G>C (p.Ala2382Pro) c.4654G>C (p.Ala1552Pro) | |
10 | g.71806234G= | CA1918885033 | CDH23 | c.8131G= (p.Ala2711=) c.2064G= (n.2064G=) c.1728G= (n.1728G=) c.8146G= (p.Ala2716=) c.1411G= (p.Ala471=) n.1667G= c.8326G= (p.Ala2776=) c.8260G= (p.Ala2754=) c.8323G= (p.Ala2775=) c.8320G= (p.Ala2774=) c.8266G= (p.Ala2756=) c.8236G= (p.Ala2746=) c.8191G= (p.Ala2731=) c.7786G= (p.Ala2596=) c.7144G= (p.Ala2382=) c.4654G= (p.Ala1552=) | |
10 | g.71806234G>T | CA377162411 | CDH23 | c.8131G>T (p.Ala2711Ser) c.2064G>T (n.2064G>T) c.1728G>T (n.1728G>T) c.8146G>T (p.Ala2716Ser) c.1411G>T (p.Ala471Ser) n.1667G>T c.8326G>T (p.Ala2776Ser) c.8260G>T (p.Ala2754Ser) c.8323G>T (p.Ala2775Ser) c.8320G>T (p.Ala2774Ser) c.8266G>T (p.Ala2756Ser) c.8236G>T (p.Ala2746Ser) c.8191G>T (p.Ala2731Ser) c.7786G>T (p.Ala2596Ser) c.7144G>T (p.Ala2382Ser) c.4654G>T (p.Ala1552Ser) | gnomAD v4 |
10 | g.71806235C>A | CA377162412 | CDH23 | c.8132C>A (p.Ala2711Asp) c.2065C>A (n.2065C>A) c.1729C>A (n.1729C>A) c.8147C>A (p.Ala2716Asp) c.1412C>A (p.Ala471Asp) n.1668C>A c.8327C>A (p.Ala2776Asp) c.8261C>A (p.Ala2754Asp) c.8324C>A (p.Ala2775Asp) c.8321C>A (p.Ala2774Asp) c.8267C>A (p.Ala2756Asp) c.8237C>A (p.Ala2746Asp) c.8192C>A (p.Ala2731Asp) c.7787C>A (p.Ala2596Asp) c.7145C>A (p.Ala2382Asp) c.4655C>A (p.Ala1552Asp) | gnomAD v4 |
10 | g.71806235C= | CA1918885034 | CDH23 | c.8132C= (p.Ala2711=) c.2065C= (n.2065C=) c.1729C= (n.1729C=) c.8147C= (p.Ala2716=) c.1412C= (p.Ala471=) n.1668C= c.8327C= (p.Ala2776=) c.8261C= (p.Ala2754=) c.8324C= (p.Ala2775=) c.8321C= (p.Ala2774=) c.8267C= (p.Ala2756=) c.8237C= (p.Ala2746=) c.8192C= (p.Ala2731=) c.7787C= (p.Ala2596=) c.7145C= (p.Ala2382=) c.4655C= (p.Ala1552=) | |
10 | g.71806235C>G | CA377162413 | CDH23 | c.8132C>G (p.Ala2711Gly) c.2065C>G (n.2065C>G) c.1729C>G (n.1729C>G) c.8147C>G (p.Ala2716Gly) c.1412C>G (p.Ala471Gly) n.1668C>G c.8327C>G (p.Ala2776Gly) c.8261C>G (p.Ala2754Gly) c.8324C>G (p.Ala2775Gly) c.8321C>G (p.Ala2774Gly) c.8267C>G (p.Ala2756Gly) c.8237C>G (p.Ala2746Gly) c.8192C>G (p.Ala2731Gly) c.7787C>G (p.Ala2596Gly) c.7145C>G (p.Ala2382Gly) c.4655C>G (p.Ala1552Gly) | dbSNP |
10 | g.71806235C>T | CA377162414 | CDH23 | c.8132C>T (p.Ala2711Val) c.2065C>T (n.2065C>T) c.1729C>T (n.1729C>T) c.8147C>T (p.Ala2716Val) c.1412C>T (p.Ala471Val) n.1668C>T c.8327C>T (p.Ala2776Val) c.8261C>T (p.Ala2754Val) c.8324C>T (p.Ala2775Val) c.8321C>T (p.Ala2774Val) c.8267C>T (p.Ala2756Val) c.8237C>T (p.Ala2746Val) c.8192C>T (p.Ala2731Val) c.7787C>T (p.Ala2596Val) c.7145C>T (p.Ala2382Val) c.4655C>T (p.Ala1552Val) | dbSNP gnomAD v4 |
10 | g.71806236C>A | CA470063389 | CDH23 | c.8133C>A (p.Ala2711=) c.2066C>A (n.2066C>A) c.1730C>A (n.1730C>A) c.8148C>A (p.Ala2716=) c.1413C>A (p.Ala471=) n.1669C>A c.8328C>A (p.Ala2776=) c.8262C>A (p.Ala2754=) c.8325C>A (p.Ala2775=) c.8322C>A (p.Ala2774=) c.8268C>A (p.Ala2756=) c.8238C>A (p.Ala2746=) c.8193C>A (p.Ala2731=) c.7788C>A (p.Ala2596=) c.7146C>A (p.Ala2382=) c.4656C>A (p.Ala1552=) | ClinVar gnomAD v4 |
10 | g.71806236C= | CA1918885036 | CDH23 | c.8133C= (p.Ala2711=) c.2066C= (n.2066C=) c.1730C= (n.1730C=) c.8148C= (p.Ala2716=) c.1413C= (p.Ala471=) n.1669C= c.8328C= (p.Ala2776=) c.8262C= (p.Ala2754=) c.8325C= (p.Ala2775=) c.8322C= (p.Ala2774=) c.8268C= (p.Ala2756=) c.8238C= (p.Ala2746=) c.8193C= (p.Ala2731=) c.7788C= (p.Ala2596=) c.7146C= (p.Ala2382=) c.4656C= (p.Ala1552=) | |
10 | g.71806236C>G | CA470063391 | CDH23 | c.8133C>G (p.Ala2711=) c.2066C>G (n.2066C>G) c.1730C>G (n.1730C>G) c.8148C>G (p.Ala2716=) c.1413C>G (p.Ala471=) n.1669C>G c.8328C>G (p.Ala2776=) c.8262C>G (p.Ala2754=) c.8325C>G (p.Ala2775=) c.8322C>G (p.Ala2774=) c.8268C>G (p.Ala2756=) c.8238C>G (p.Ala2746=) c.8193C>G (p.Ala2731=) c.7788C>G (p.Ala2596=) c.7146C>G (p.Ala2382=) c.4656C>G (p.Ala1552=) | ClinVar dbSNP |
10 | g.71806236C>T | CA470063393 | CDH23 | c.8133C>T (p.Ala2711=) c.2066C>T (n.2066C>T) c.1730C>T (n.1730C>T) c.8148C>T (p.Ala2716=) c.1413C>T (p.Ala471=) n.1669C>T c.8328C>T (p.Ala2776=) c.8262C>T (p.Ala2754=) c.8325C>T (p.Ala2775=) c.8322C>T (p.Ala2774=) c.8268C>T (p.Ala2756=) c.8238C>T (p.Ala2746=) c.8193C>T (p.Ala2731=) c.7788C>T (p.Ala2596=) c.7146C>T (p.Ala2382=) c.4656C>T (p.Ala1552=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806237C>A | CA377162416 | CDH23 | c.8134C>A (p.Leu2712Met) c.2067C>A (n.2067C>A) c.1731C>A (n.1731C>A) c.8149C>A (p.Leu2717Met) c.1414C>A (p.Leu472Met) n.1670C>A c.8329C>A (p.Leu2777Met) c.8263C>A (p.Leu2755Met) c.8326C>A (p.Leu2776Met) c.8323C>A (p.Leu2775Met) c.8269C>A (p.Leu2757Met) c.8239C>A (p.Leu2747Met) c.8194C>A (p.Leu2732Met) c.7789C>A (p.Leu2597Met) c.7147C>A (p.Leu2383Met) c.4657C>A (p.Leu1553Met) | gnomAD v4 |
10 | g.71806237C= | CA1918885038 | CDH23 | c.8134C= (p.Leu2712=) c.2067C= (n.2067C=) c.1731C= (n.1731C=) c.8149C= (p.Leu2717=) c.1414C= (p.Leu472=) n.1670C= c.8329C= (p.Leu2777=) c.8263C= (p.Leu2755=) c.8326C= (p.Leu2776=) c.8323C= (p.Leu2775=) c.8269C= (p.Leu2757=) c.8239C= (p.Leu2747=) c.8194C= (p.Leu2732=) c.7789C= (p.Leu2597=) c.7147C= (p.Leu2383=) c.4657C= (p.Leu1553=) | |
10 | g.71806237C>G | CA377162415 | CDH23 | c.8134C>G (p.Leu2712Val) c.2067C>G (n.2067C>G) c.1731C>G (n.1731C>G) c.8149C>G (p.Leu2717Val) c.1414C>G (p.Leu472Val) n.1670C>G c.8329C>G (p.Leu2777Val) c.8263C>G (p.Leu2755Val) c.8326C>G (p.Leu2776Val) c.8323C>G (p.Leu2775Val) c.8269C>G (p.Leu2757Val) c.8239C>G (p.Leu2747Val) c.8194C>G (p.Leu2732Val) c.7789C>G (p.Leu2597Val) c.7147C>G (p.Leu2383Val) c.4657C>G (p.Leu1553Val) | |
10 | g.71806237C>T | CA470063395 | CDH23 | c.8134C>T (p.Leu2712=) c.2067C>T (n.2067C>T) c.1731C>T (n.1731C>T) c.8149C>T (p.Leu2717=) c.1414C>T (p.Leu472=) n.1670C>T c.8329C>T (p.Leu2777=) c.8263C>T (p.Leu2755=) c.8326C>T (p.Leu2776=) c.8323C>T (p.Leu2775=) c.8269C>T (p.Leu2757=) c.8239C>T (p.Leu2747=) c.8194C>T (p.Leu2732=) c.7789C>T (p.Leu2597=) c.7147C>T (p.Leu2383=) c.4657C>T (p.Leu1553=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806238T>A | CA377162417 | CDH23 | c.8135T>A (p.Leu2712Gln) c.2068T>A (n.2068T>A) c.1732T>A (n.1732T>A) c.8150T>A (p.Leu2717Gln) c.1415T>A (p.Leu472Gln) n.1671T>A c.8330T>A (p.Leu2777Gln) c.8264T>A (p.Leu2755Gln) c.8327T>A (p.Leu2776Gln) c.8324T>A (p.Leu2775Gln) c.8270T>A (p.Leu2757Gln) c.8240T>A (p.Leu2747Gln) c.8195T>A (p.Leu2732Gln) c.7790T>A (p.Leu2597Gln) c.7148T>A (p.Leu2383Gln) c.4658T>A (p.Leu1553Gln) | gnomAD v4 |
10 | g.71806238T>C | CA377162418 | CDH23 | c.8135T>C (p.Leu2712Pro) c.2068T>C (n.2068T>C) c.1732T>C (n.1732T>C) c.8150T>C (p.Leu2717Pro) c.1415T>C (p.Leu472Pro) n.1671T>C c.8330T>C (p.Leu2777Pro) c.8264T>C (p.Leu2755Pro) c.8327T>C (p.Leu2776Pro) c.8324T>C (p.Leu2775Pro) c.8270T>C (p.Leu2757Pro) c.8240T>C (p.Leu2747Pro) c.8195T>C (p.Leu2732Pro) c.7790T>C (p.Leu2597Pro) c.7148T>C (p.Leu2383Pro) c.4658T>C (p.Leu1553Pro) | gnomAD v4 |
10 | g.71806238T>G | CA377162419 | CDH23 | c.8135T>G (p.Leu2712Arg) c.2068T>G (n.2068T>G) c.1732T>G (n.1732T>G) c.8150T>G (p.Leu2717Arg) c.1415T>G (p.Leu472Arg) n.1671T>G c.8330T>G (p.Leu2777Arg) c.8264T>G (p.Leu2755Arg) c.8327T>G (p.Leu2776Arg) c.8324T>G (p.Leu2775Arg) c.8270T>G (p.Leu2757Arg) c.8240T>G (p.Leu2747Arg) c.8195T>G (p.Leu2732Arg) c.7790T>G (p.Leu2597Arg) c.7148T>G (p.Leu2383Arg) c.4658T>G (p.Leu1553Arg) | |
10 | g.71806239G>A | CA470063399 | CDH23 | c.8136G>A (p.Leu2712=) c.2069G>A (n.2069G>A) c.1733G>A (n.1733G>A) c.8151G>A (p.Leu2717=) c.1416G>A (p.Leu472=) n.1672G>A c.8331G>A (p.Leu2777=) c.8265G>A (p.Leu2755=) c.8328G>A (p.Leu2776=) c.8325G>A (p.Leu2775=) c.8271G>A (p.Leu2757=) c.8241G>A (p.Leu2747=) c.8196G>A (p.Leu2732=) c.7791G>A (p.Leu2597=) c.7149G>A (p.Leu2383=) c.4659G>A (p.Leu1553=) | gnomAD v4 |
10 | g.71806239G>C | CA470063400 | CDH23 | c.8136G>C (p.Leu2712=) c.2069G>C (n.2069G>C) c.1733G>C (n.1733G>C) c.8151G>C (p.Leu2717=) c.1416G>C (p.Leu472=) n.1672G>C c.8331G>C (p.Leu2777=) c.8265G>C (p.Leu2755=) c.8328G>C (p.Leu2776=) c.8325G>C (p.Leu2775=) c.8271G>C (p.Leu2757=) c.8241G>C (p.Leu2747=) c.8196G>C (p.Leu2732=) c.7791G>C (p.Leu2597=) c.7149G>C (p.Leu2383=) c.4659G>C (p.Leu1553=) | |
10 | g.71806239G>T | CA470063402 | CDH23 | c.8136G>T (p.Leu2712=) c.2069G>T (n.2069G>T) c.1733G>T (n.1733G>T) c.8151G>T (p.Leu2717=) c.1416G>T (p.Leu472=) n.1672G>T c.8331G>T (p.Leu2777=) c.8265G>T (p.Leu2755=) c.8328G>T (p.Leu2776=) c.8325G>T (p.Leu2775=) c.8271G>T (p.Leu2757=) c.8241G>T (p.Leu2747=) c.8196G>T (p.Leu2732=) c.7791G>T (p.Leu2597=) c.7149G>T (p.Leu2383=) c.4659G>T (p.Leu1553=) | ClinVar gnomAD v4 |
10 | g.71806240del | CA2609584484 | CDH23 | c.8137del (p.Glu2713ArgfsTer11) c.2070del (n.2070del) c.1734del (n.1734del) c.8152del (p.Glu2718ArgfsTer11) c.1417del (p.Glu473ArgfsTer11) n.1673del c.8332del (p.Glu2778ArgfsTer11) c.8266del (p.Glu2756ArgfsTer11) c.8329del (p.Glu2777ArgfsTer11) c.8326del (p.Glu2776ArgfsTer11) c.8272del (p.Glu2758ArgfsTer11) c.8242del (p.Glu2748ArgfsTer11) c.8197del (p.Glu2733ArgfsTer11) c.7792del (p.Glu2598ArgfsTer11) c.7150del (p.Glu2384ArgfsTer11) c.4660del (p.Glu1554ArgfsTer11) | gnomAD v4 |
10 | g.71806240G>A | CA377162420 | CDH23 | c.8137G>A (p.Glu2713Lys) c.2070G>A (n.2070G>A) c.1734G>A (n.1734G>A) c.8152G>A (p.Glu2718Lys) c.1417G>A (p.Glu473Lys) n.1673G>A c.8332G>A (p.Glu2778Lys) c.8266G>A (p.Glu2756Lys) c.8329G>A (p.Glu2777Lys) c.8326G>A (p.Glu2776Lys) c.8272G>A (p.Glu2758Lys) c.8242G>A (p.Glu2748Lys) c.8197G>A (p.Glu2733Lys) c.7792G>A (p.Glu2598Lys) c.7150G>A (p.Glu2384Lys) c.4660G>A (p.Glu1554Lys) | |
10 | g.71806240G>C | CA377162421 | CDH23 | c.8137G>C (p.Glu2713Gln) c.2070G>C (n.2070G>C) c.1734G>C (n.1734G>C) c.8152G>C (p.Glu2718Gln) c.1417G>C (p.Glu473Gln) n.1673G>C c.8332G>C (p.Glu2778Gln) c.8266G>C (p.Glu2756Gln) c.8329G>C (p.Glu2777Gln) c.8326G>C (p.Glu2776Gln) c.8272G>C (p.Glu2758Gln) c.8242G>C (p.Glu2748Gln) c.8197G>C (p.Glu2733Gln) c.7792G>C (p.Glu2598Gln) c.7150G>C (p.Glu2384Gln) c.4660G>C (p.Glu1554Gln) | |
10 | g.71806240G>T | CA377162422 | CDH23 | c.8137G>T (p.Glu2713Ter) c.2070G>T (n.2070G>T) c.1734G>T (n.1734G>T) c.8152G>T (p.Glu2718Ter) c.1417G>T (p.Glu473Ter) n.1673G>T c.8332G>T (p.Glu2778Ter) c.8266G>T (p.Glu2756Ter) c.8329G>T (p.Glu2777Ter) c.8326G>T (p.Glu2776Ter) c.8272G>T (p.Glu2758Ter) c.8242G>T (p.Glu2748Ter) c.8197G>T (p.Glu2733Ter) c.7792G>T (p.Glu2598Ter) c.7150G>T (p.Glu2384Ter) c.4660G>T (p.Glu1554Ter) | gnomAD v4 |
10 | g.71806241del | CA2609584497 | CDH23 | c.8138del (p.Glu2713GlyfsTer11) c.2071del (n.2071del) c.1735del (n.1735del) c.8153del (p.Glu2718GlyfsTer11) c.1418del (p.Glu473GlyfsTer11) n.1674del c.8333del (p.Glu2778GlyfsTer11) c.8267del (p.Glu2756GlyfsTer11) c.8330del (p.Glu2777GlyfsTer11) c.8327del (p.Glu2776GlyfsTer11) c.8273del (p.Glu2758GlyfsTer11) c.8243del (p.Glu2748GlyfsTer11) c.8198del (p.Glu2733GlyfsTer11) c.7793del (p.Glu2598GlyfsTer11) c.7151del (p.Glu2384GlyfsTer11) c.4661del (p.Glu1554GlyfsTer11) | gnomAD v4 |
10 | g.71806241A>C | CA377162423 | CDH23 | c.8138A>C (p.Glu2713Ala) c.2071A>C (n.2071A>C) c.1735A>C (n.1735A>C) c.8153A>C (p.Glu2718Ala) c.1418A>C (p.Glu473Ala) n.1674A>C c.8333A>C (p.Glu2778Ala) c.8267A>C (p.Glu2756Ala) c.8330A>C (p.Glu2777Ala) c.8327A>C (p.Glu2776Ala) c.8273A>C (p.Glu2758Ala) c.8243A>C (p.Glu2748Ala) c.8198A>C (p.Glu2733Ala) c.7793A>C (p.Glu2598Ala) c.7151A>C (p.Glu2384Ala) c.4661A>C (p.Glu1554Ala) | |
10 | g.71806241A>G | CA377162425 | CDH23 | c.8138A>G (p.Glu2713Gly) c.2071A>G (n.2071A>G) c.1735A>G (n.1735A>G) c.8153A>G (p.Glu2718Gly) c.1418A>G (p.Glu473Gly) n.1674A>G c.8333A>G (p.Glu2778Gly) c.8267A>G (p.Glu2756Gly) c.8330A>G (p.Glu2777Gly) c.8327A>G (p.Glu2776Gly) c.8273A>G (p.Glu2758Gly) c.8243A>G (p.Glu2748Gly) c.8198A>G (p.Glu2733Gly) c.7793A>G (p.Glu2598Gly) c.7151A>G (p.Glu2384Gly) c.4661A>G (p.Glu1554Gly) | gnomAD v4 |
10 | g.71806241A>T | CA377162424 | CDH23 | c.8138A>T (p.Glu2713Val) c.2071A>T (n.2071A>T) c.1735A>T (n.1735A>T) c.8153A>T (p.Glu2718Val) c.1418A>T (p.Glu473Val) n.1674A>T c.8333A>T (p.Glu2778Val) c.8267A>T (p.Glu2756Val) c.8330A>T (p.Glu2777Val) c.8327A>T (p.Glu2776Val) c.8273A>T (p.Glu2758Val) c.8243A>T (p.Glu2748Val) c.8198A>T (p.Glu2733Val) c.7793A>T (p.Glu2598Val) c.7151A>T (p.Glu2384Val) c.4661A>T (p.Glu1554Val) | gnomAD v4 |
10 | g.71806242G>A | CA470063407 | CDH23 | c.8139G>A (p.Glu2713=) c.2072G>A (n.2072G>A) c.1736G>A (n.1736G>A) c.8154G>A (p.Glu2718=) c.1419G>A (p.Glu473=) n.1675G>A c.8334G>A (p.Glu2778=) c.8268G>A (p.Glu2756=) c.8331G>A (p.Glu2777=) c.8328G>A (p.Glu2776=) c.8274G>A (p.Glu2758=) c.8244G>A (p.Glu2748=) c.8199G>A (p.Glu2733=) c.7794G>A (p.Glu2598=) c.7152G>A (p.Glu2384=) c.4662G>A (p.Glu1554=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806242G>C | CA377162426 | CDH23 | c.8139G>C (p.Glu2713Asp) c.2072G>C (n.2072G>C) c.1736G>C (n.1736G>C) c.8154G>C (p.Glu2718Asp) c.1419G>C (p.Glu473Asp) n.1675G>C c.8334G>C (p.Glu2778Asp) c.8268G>C (p.Glu2756Asp) c.8331G>C (p.Glu2777Asp) c.8328G>C (p.Glu2776Asp) c.8274G>C (p.Glu2758Asp) c.8244G>C (p.Glu2748Asp) c.8199G>C (p.Glu2733Asp) c.7794G>C (p.Glu2598Asp) c.7152G>C (p.Glu2384Asp) c.4662G>C (p.Glu1554Asp) | |
10 | g.71806242G= | CA1918885040 | CDH23 | c.8139G= (p.Glu2713=) c.2072G= (n.2072G=) c.1736G= (n.1736G=) c.8154G= (p.Glu2718=) c.1419G= (p.Glu473=) n.1675G= c.8334G= (p.Glu2778=) c.8268G= (p.Glu2756=) c.8331G= (p.Glu2777=) c.8328G= (p.Glu2776=) c.8274G= (p.Glu2758=) c.8244G= (p.Glu2748=) c.8199G= (p.Glu2733=) c.7794G= (p.Glu2598=) c.7152G= (p.Glu2384=) c.4662G= (p.Glu1554=) | |
10 | g.71806242G>T | CA377162427 | CDH23 | c.8139G>T (p.Glu2713Asp) c.2072G>T (n.2072G>T) c.1736G>T (n.1736G>T) c.8154G>T (p.Glu2718Asp) c.1419G>T (p.Glu473Asp) n.1675G>T c.8334G>T (p.Glu2778Asp) c.8268G>T (p.Glu2756Asp) c.8331G>T (p.Glu2777Asp) c.8328G>T (p.Glu2776Asp) c.8274G>T (p.Glu2758Asp) c.8244G>T (p.Glu2748Asp) c.8199G>T (p.Glu2733Asp) c.7794G>T (p.Glu2598Asp) c.7152G>T (p.Glu2384Asp) c.4662G>T (p.Glu1554Asp) | gnomAD v4 |
10 | g.71806243G>A | CA377162428 | CDH23 | c.8140G>A (p.Asp2714Asn) c.2073G>A (n.2073G>A) c.1737G>A (n.1737G>A) c.8155G>A (p.Asp2719Asn) c.1420G>A (p.Asp474Asn) n.1676G>A c.8335G>A (p.Asp2779Asn) c.8269G>A (p.Asp2757Asn) c.8332G>A (p.Asp2778Asn) c.8329G>A (p.Asp2777Asn) c.8275G>A (p.Asp2759Asn) c.8245G>A (p.Asp2749Asn) c.8200G>A (p.Asp2734Asn) c.7795G>A (p.Asp2599Asn) c.7153G>A (p.Asp2385Asn) c.4663G>A (p.Asp1555Asn) | gnomAD v4 |
10 | g.71806243G>C | CA377162429 | CDH23 | c.8140G>C (p.Asp2714His) c.2073G>C (n.2073G>C) c.1737G>C (n.1737G>C) c.8155G>C (p.Asp2719His) c.1420G>C (p.Asp474His) n.1676G>C c.8335G>C (p.Asp2779His) c.8269G>C (p.Asp2757His) c.8332G>C (p.Asp2778His) c.8329G>C (p.Asp2777His) c.8275G>C (p.Asp2759His) c.8245G>C (p.Asp2749His) c.8200G>C (p.Asp2734His) c.7795G>C (p.Asp2599His) c.7153G>C (p.Asp2385His) c.4663G>C (p.Asp1555His) | gnomAD v4 |
10 | g.71806243G>T | CA377162430 | CDH23 | c.8140G>T (p.Asp2714Tyr) c.2073G>T (n.2073G>T) c.1737G>T (n.1737G>T) c.8155G>T (p.Asp2719Tyr) c.1420G>T (p.Asp474Tyr) n.1676G>T c.8335G>T (p.Asp2779Tyr) c.8269G>T (p.Asp2757Tyr) c.8332G>T (p.Asp2778Tyr) c.8329G>T (p.Asp2777Tyr) c.8275G>T (p.Asp2759Tyr) c.8245G>T (p.Asp2749Tyr) c.8200G>T (p.Asp2734Tyr) c.7795G>T (p.Asp2599Tyr) c.7153G>T (p.Asp2385Tyr) c.4663G>T (p.Asp1555Tyr) | ClinVar dbSNP gnomAD v4 |
10 | g.71806244A>C | CA377162431 | CDH23 | c.8141A>C (p.Asp2714Ala) c.2074A>C (n.2074A>C) c.1738A>C (n.1738A>C) c.8156A>C (p.Asp2719Ala) c.1421A>C (p.Asp474Ala) n.1677A>C c.8336A>C (p.Asp2779Ala) c.8270A>C (p.Asp2757Ala) c.8333A>C (p.Asp2778Ala) c.8330A>C (p.Asp2777Ala) c.8276A>C (p.Asp2759Ala) c.8246A>C (p.Asp2749Ala) c.8201A>C (p.Asp2734Ala) c.7796A>C (p.Asp2599Ala) c.7154A>C (p.Asp2385Ala) c.4664A>C (p.Asp1555Ala) | |
10 | g.71806244A>G | CA377162432 | CDH23 | c.8141A>G (p.Asp2714Gly) c.2074A>G (n.2074A>G) c.1738A>G (n.1738A>G) c.8156A>G (p.Asp2719Gly) c.1421A>G (p.Asp474Gly) n.1677A>G c.8336A>G (p.Asp2779Gly) c.8270A>G (p.Asp2757Gly) c.8333A>G (p.Asp2778Gly) c.8330A>G (p.Asp2777Gly) c.8276A>G (p.Asp2759Gly) c.8246A>G (p.Asp2749Gly) c.8201A>G (p.Asp2734Gly) c.7796A>G (p.Asp2599Gly) c.7154A>G (p.Asp2385Gly) c.4664A>G (p.Asp1555Gly) | gnomAD v4 |
10 | g.71806244A>T | CA377162433 | CDH23 | c.8141A>T (p.Asp2714Val) c.2074A>T (n.2074A>T) c.1738A>T (n.1738A>T) c.8156A>T (p.Asp2719Val) c.1421A>T (p.Asp474Val) n.1677A>T c.8336A>T (p.Asp2779Val) c.8270A>T (p.Asp2757Val) c.8333A>T (p.Asp2778Val) c.8330A>T (p.Asp2777Val) c.8276A>T (p.Asp2759Val) c.8246A>T (p.Asp2749Val) c.8201A>T (p.Asp2734Val) c.7796A>T (p.Asp2599Val) c.7154A>T (p.Asp2385Val) c.4664A>T (p.Asp1555Val) | gnomAD v4 |
10 | g.71806245C>A | CA377162434 | CDH23 | c.8142C>A (p.Asp2714Glu) c.2075C>A (n.2075C>A) c.1739C>A (n.1739C>A) c.8157C>A (p.Asp2719Glu) c.1422C>A (p.Asp474Glu) n.1678C>A c.8337C>A (p.Asp2779Glu) c.8271C>A (p.Asp2757Glu) c.8334C>A (p.Asp2778Glu) c.8331C>A (p.Asp2777Glu) c.8277C>A (p.Asp2759Glu) c.8247C>A (p.Asp2749Glu) c.8202C>A (p.Asp2734Glu) c.7797C>A (p.Asp2599Glu) c.7155C>A (p.Asp2385Glu) c.4665C>A (p.Asp1555Glu) | gnomAD v4 |
10 | g.71806245C= | CA1918885042 | CDH23 | c.8142C= (p.Asp2714=) c.2075C= (n.2075C=) c.1739C= (n.1739C=) c.8157C= (p.Asp2719=) c.1422C= (p.Asp474=) n.1678C= c.8337C= (p.Asp2779=) c.8271C= (p.Asp2757=) c.8334C= (p.Asp2778=) c.8331C= (p.Asp2777=) c.8277C= (p.Asp2759=) c.8247C= (p.Asp2749=) c.8202C= (p.Asp2734=) c.7797C= (p.Asp2599=) c.7155C= (p.Asp2385=) c.4665C= (p.Asp1555=) | |
10 | g.71806245C>G | CA377162435 | CDH23 | c.8142C>G (p.Asp2714Glu) c.2075C>G (n.2075C>G) c.1739C>G (n.1739C>G) c.8157C>G (p.Asp2719Glu) c.1422C>G (p.Asp474Glu) n.1678C>G c.8337C>G (p.Asp2779Glu) c.8271C>G (p.Asp2757Glu) c.8334C>G (p.Asp2778Glu) c.8331C>G (p.Asp2777Glu) c.8277C>G (p.Asp2759Glu) c.8247C>G (p.Asp2749Glu) c.8202C>G (p.Asp2734Glu) c.7797C>G (p.Asp2599Glu) c.7155C>G (p.Asp2385Glu) c.4665C>G (p.Asp1555Glu) | |
10 | g.71806245C>T | CA470063414 | CDH23 | c.8142C>T (p.Asp2714=) c.2075C>T (n.2075C>T) c.1739C>T (n.1739C>T) c.8157C>T (p.Asp2719=) c.1422C>T (p.Asp474=) n.1678C>T c.8337C>T (p.Asp2779=) c.8271C>T (p.Asp2757=) c.8334C>T (p.Asp2778=) c.8331C>T (p.Asp2777=) c.8277C>T (p.Asp2759=) c.8247C>T (p.Asp2749=) c.8202C>T (p.Asp2734=) c.7797C>T (p.Asp2599=) c.7155C>T (p.Asp2385=) c.4665C>T (p.Asp1555=) | dbSNP gnomAD v4 |
10 | g.71806246A>C | CA377162436 | CDH23 | c.8143A>C (p.Ile2715Leu) c.2076A>C (n.2076A>C) c.1740A>C (n.1740A>C) c.8158A>C (p.Ile2720Leu) c.1423A>C (p.Ile475Leu) n.1679A>C c.8338A>C (p.Ile2780Leu) c.8272A>C (p.Ile2758Leu) c.8335A>C (p.Ile2779Leu) c.8332A>C (p.Ile2778Leu) c.8278A>C (p.Ile2760Leu) c.8248A>C (p.Ile2750Leu) c.8203A>C (p.Ile2735Leu) c.7798A>C (p.Ile2600Leu) c.7156A>C (p.Ile2386Leu) c.4666A>C (p.Ile1556Leu) | |
10 | g.71806246A>G | CA377162437 | CDH23 | c.8143A>G (p.Ile2715Val) c.2076A>G (n.2076A>G) c.1740A>G (n.1740A>G) c.8158A>G (p.Ile2720Val) c.1423A>G (p.Ile475Val) n.1679A>G c.8338A>G (p.Ile2780Val) c.8272A>G (p.Ile2758Val) c.8335A>G (p.Ile2779Val) c.8332A>G (p.Ile2778Val) c.8278A>G (p.Ile2760Val) c.8248A>G (p.Ile2750Val) c.8203A>G (p.Ile2735Val) c.7798A>G (p.Ile2600Val) c.7156A>G (p.Ile2386Val) c.4666A>G (p.Ile1556Val) | |
10 | g.71806246A>T | CA377162438 | CDH23 | c.8143A>T (p.Ile2715Phe) c.2076A>T (n.2076A>T) c.1740A>T (n.1740A>T) c.8158A>T (p.Ile2720Phe) c.1423A>T (p.Ile475Phe) n.1679A>T c.8338A>T (p.Ile2780Phe) c.8272A>T (p.Ile2758Phe) c.8335A>T (p.Ile2779Phe) c.8332A>T (p.Ile2778Phe) c.8278A>T (p.Ile2760Phe) c.8248A>T (p.Ile2750Phe) c.8203A>T (p.Ile2735Phe) c.7798A>T (p.Ile2600Phe) c.7156A>T (p.Ile2386Phe) c.4666A>T (p.Ile1556Phe) | gnomAD v4 |
10 | g.71806247T>A | CA377162440 | CDH23 | c.8144T>A (p.Ile2715Asn) c.2077T>A (n.2077T>A) c.1741T>A (n.1741T>A) c.8159T>A (p.Ile2720Asn) c.1424T>A (p.Ile475Asn) n.1680T>A c.8339T>A (p.Ile2780Asn) c.8273T>A (p.Ile2758Asn) c.8336T>A (p.Ile2779Asn) c.8333T>A (p.Ile2778Asn) c.8279T>A (p.Ile2760Asn) c.8249T>A (p.Ile2750Asn) c.8204T>A (p.Ile2735Asn) c.7799T>A (p.Ile2600Asn) c.7157T>A (p.Ile2386Asn) c.4667T>A (p.Ile1556Asn) | |
10 | g.71806247T>C | CA377162441 | CDH23 | c.8144T>C (p.Ile2715Thr) c.2077T>C (n.2077T>C) c.1741T>C (n.1741T>C) c.8159T>C (p.Ile2720Thr) c.1424T>C (p.Ile475Thr) n.1680T>C c.8339T>C (p.Ile2780Thr) c.8273T>C (p.Ile2758Thr) c.8336T>C (p.Ile2779Thr) c.8333T>C (p.Ile2778Thr) c.8279T>C (p.Ile2760Thr) c.8249T>C (p.Ile2750Thr) c.8204T>C (p.Ile2735Thr) c.7799T>C (p.Ile2600Thr) c.7157T>C (p.Ile2386Thr) c.4667T>C (p.Ile1556Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806247T>G | CA377162439 | CDH23 | c.8144T>G (p.Ile2715Ser) c.2077T>G (n.2077T>G) c.1741T>G (n.1741T>G) c.8159T>G (p.Ile2720Ser) c.1424T>G (p.Ile475Ser) n.1680T>G c.8339T>G (p.Ile2780Ser) c.8273T>G (p.Ile2758Ser) c.8336T>G (p.Ile2779Ser) c.8333T>G (p.Ile2778Ser) c.8279T>G (p.Ile2760Ser) c.8249T>G (p.Ile2750Ser) c.8204T>G (p.Ile2735Ser) c.7799T>G (p.Ile2600Ser) c.7157T>G (p.Ile2386Ser) c.4667T>G (p.Ile1556Ser) | |
10 | g.71806247T= | CA1918885044 | CDH23 | c.8144T= (p.Ile2715=) c.2077T= (n.2077T=) c.1741T= (n.1741T=) c.8159T= (p.Ile2720=) c.1424T= (p.Ile475=) n.1680T= c.8339T= (p.Ile2780=) c.8273T= (p.Ile2758=) c.8336T= (p.Ile2779=) c.8333T= (p.Ile2778=) c.8279T= (p.Ile2760=) c.8249T= (p.Ile2750=) c.8204T= (p.Ile2735=) c.7799T= (p.Ile2600=) c.7157T= (p.Ile2386=) c.4667T= (p.Ile1556=) | |
10 | g.71806248C>A | CA470063419 | CDH23 | c.8145C>A (p.Ile2715=) c.2078C>A (n.2078C>A) c.1742C>A (n.1742C>A) c.8160C>A (p.Ile2720=) c.1425C>A (p.Ile475=) n.1681C>A c.8340C>A (p.Ile2780=) c.8274C>A (p.Ile2758=) c.8337C>A (p.Ile2779=) c.8334C>A (p.Ile2778=) c.8280C>A (p.Ile2760=) c.8250C>A (p.Ile2750=) c.8205C>A (p.Ile2735=) c.7800C>A (p.Ile2600=) c.7158C>A (p.Ile2386=) c.4668C>A (p.Ile1556=) | gnomAD v4 |
10 | g.71806248C= | CA1918885047 | CDH23 | c.8145C= (p.Ile2715=) c.2078C= (n.2078C=) c.1742C= (n.1742C=) c.8160C= (p.Ile2720=) c.1425C= (p.Ile475=) n.1681C= c.8340C= (p.Ile2780=) c.8274C= (p.Ile2758=) c.8337C= (p.Ile2779=) c.8334C= (p.Ile2778=) c.8280C= (p.Ile2760=) c.8250C= (p.Ile2750=) c.8205C= (p.Ile2735=) c.7800C= (p.Ile2600=) c.7158C= (p.Ile2386=) c.4668C= (p.Ile1556=) | |
10 | g.71806248C>G | CA377162442 | CDH23 | c.8145C>G (p.Ile2715Met) c.2078C>G (n.2078C>G) c.1742C>G (n.1742C>G) c.8160C>G (p.Ile2720Met) c.1425C>G (p.Ile475Met) n.1681C>G c.8340C>G (p.Ile2780Met) c.8274C>G (p.Ile2758Met) c.8337C>G (p.Ile2779Met) c.8334C>G (p.Ile2778Met) c.8280C>G (p.Ile2760Met) c.8250C>G (p.Ile2750Met) c.8205C>G (p.Ile2735Met) c.7800C>G (p.Ile2600Met) c.7158C>G (p.Ile2386Met) c.4668C>G (p.Ile1556Met) | dbSNP |
10 | g.71806248C>T | CA470063421 | CDH23 | c.8145C>T (p.Ile2715=) c.2078C>T (n.2078C>T) c.1742C>T (n.1742C>T) c.8160C>T (p.Ile2720=) c.1425C>T (p.Ile475=) n.1681C>T c.8340C>T (p.Ile2780=) c.8274C>T (p.Ile2758=) c.8337C>T (p.Ile2779=) c.8334C>T (p.Ile2778=) c.8280C>T (p.Ile2760=) c.8250C>T (p.Ile2750=) c.8205C>T (p.Ile2735=) c.7800C>T (p.Ile2600=) c.7158C>T (p.Ile2386=) c.4668C>T (p.Ile1556=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806248_71806249delinsCG | CA1918885048 | CDH23 | c.8145_8146delinsCG (p.Ile2715=) c.2078_2079delinsCG (n.2078_2079delinsCG) c.1742_1743delinsCG (n.1742_1743delinsCG) c.8160_8161delinsCG (p.Ile2720=) c.1425_1426delinsCG (p.Ile475=) n.1681_1682delinsCG c.8340_8341delinsCG (p.Ile2780=) c.8274_8275delinsCG (p.Ile2758=) c.8337_8338delinsCG (p.Ile2779=) c.8334_8335delinsCG (p.Ile2778=) c.8280_8281delinsCG (p.Ile2760=) c.8250_8251delinsCG (p.Ile2750=) c.8205_8206delinsCG (p.Ile2735=) c.7800_7801delinsCG (p.Ile2600=) c.7158_7159delinsCG (p.Ile2386=) c.4668_4669delinsCG (p.Ile1556=) | |
10 | g.71806249del | CA594317650 | CDH23 | c.8146del (p.Asp2716MetfsTer8) c.2079del (n.2079del) c.1743del (n.1743del) c.8161del (p.Asp2721MetfsTer8) c.1426del (p.Asp476MetfsTer8) n.1682del c.8341del (p.Asp2781MetfsTer8) c.8275del (p.Asp2759MetfsTer8) c.8338del (p.Asp2780MetfsTer8) c.8335del (p.Asp2779MetfsTer8) c.8281del (p.Asp2761MetfsTer8) c.8251del (p.Asp2751MetfsTer8) c.8206del (p.Asp2736MetfsTer8) c.7801del (p.Asp2601MetfsTer8) c.7159del (p.Asp2387MetfsTer8) c.4669del (p.Asp1557MetfsTer8) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806249G>A | CA5546556 | CDH23 | c.8146G>A (p.Asp2716Asn) c.2079G>A (n.2079G>A) c.1743G>A (n.1743G>A) c.8161G>A (p.Asp2721Asn) c.1426G>A (p.Asp476Asn) n.1682G>A c.8341G>A (p.Asp2781Asn) c.8275G>A (p.Asp2759Asn) c.8338G>A (p.Asp2780Asn) c.8335G>A (p.Asp2779Asn) c.8281G>A (p.Asp2761Asn) c.8251G>A (p.Asp2751Asn) c.8206G>A (p.Asp2736Asn) c.7801G>A (p.Asp2601Asn) c.7159G>A (p.Asp2387Asn) c.4669G>A (p.Asp1557Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71806249G>C | CA377162444 | CDH23 | c.8146G>C (p.Asp2716His) c.2079G>C (n.2079G>C) c.1743G>C (n.1743G>C) c.8161G>C (p.Asp2721His) c.1426G>C (p.Asp476His) n.1682G>C c.8341G>C (p.Asp2781His) c.8275G>C (p.Asp2759His) c.8338G>C (p.Asp2780His) c.8335G>C (p.Asp2779His) c.8281G>C (p.Asp2761His) c.8251G>C (p.Asp2751His) c.8206G>C (p.Asp2736His) c.7801G>C (p.Asp2601His) c.7159G>C (p.Asp2387His) c.4669G>C (p.Asp1557His) | gnomAD v4 |
10 | g.71806249G= | CA1918885054 | CDH23 | c.8146G= (p.Asp2716=) c.2079G= (n.2079G=) c.1743G= (n.1743G=) c.8161G= (p.Asp2721=) c.1426G= (p.Asp476=) n.1682G= c.8341G= (p.Asp2781=) c.8275G= (p.Asp2759=) c.8338G= (p.Asp2780=) c.8335G= (p.Asp2779=) c.8281G= (p.Asp2761=) c.8251G= (p.Asp2751=) c.8206G= (p.Asp2736=) c.7801G= (p.Asp2601=) c.7159G= (p.Asp2387=) c.4669G= (p.Asp1557=) | |
10 | g.71806249G>T | CA377162443 | CDH23 | c.8146G>T (p.Asp2716Tyr) c.2079G>T (n.2079G>T) c.1743G>T (n.1743G>T) c.8161G>T (p.Asp2721Tyr) c.1426G>T (p.Asp476Tyr) n.1682G>T c.8341G>T (p.Asp2781Tyr) c.8275G>T (p.Asp2759Tyr) c.8338G>T (p.Asp2780Tyr) c.8335G>T (p.Asp2779Tyr) c.8281G>T (p.Asp2761Tyr) c.8251G>T (p.Asp2751Tyr) c.8206G>T (p.Asp2736Tyr) c.7801G>T (p.Asp2601Tyr) c.7159G>T (p.Asp2387Tyr) c.4669G>T (p.Asp1557Tyr) | gnomAD v4 |
10 | g.71806250A>C | CA377162445 | CDH23 | c.8147A>C (p.Asp2716Ala) c.2080A>C (n.2080A>C) c.1744A>C (n.1744A>C) c.8162A>C (p.Asp2721Ala) c.1427A>C (p.Asp476Ala) n.1683A>C c.8342A>C (p.Asp2781Ala) c.8276A>C (p.Asp2759Ala) c.8339A>C (p.Asp2780Ala) c.8336A>C (p.Asp2779Ala) c.8282A>C (p.Asp2761Ala) c.8252A>C (p.Asp2751Ala) c.8207A>C (p.Asp2736Ala) c.7802A>C (p.Asp2601Ala) c.7160A>C (p.Asp2387Ala) c.4670A>C (p.Asp1557Ala) | |
10 | g.71806250A>G | CA377162446 | CDH23 | c.8147A>G (p.Asp2716Gly) c.2080A>G (n.2080A>G) c.1744A>G (n.1744A>G) c.8162A>G (p.Asp2721Gly) c.1427A>G (p.Asp476Gly) n.1683A>G c.8342A>G (p.Asp2781Gly) c.8276A>G (p.Asp2759Gly) c.8339A>G (p.Asp2780Gly) c.8336A>G (p.Asp2779Gly) c.8282A>G (p.Asp2761Gly) c.8252A>G (p.Asp2751Gly) c.8207A>G (p.Asp2736Gly) c.7802A>G (p.Asp2601Gly) c.7160A>G (p.Asp2387Gly) c.4670A>G (p.Asp1557Gly) | |
10 | g.71806250A>T | CA377162447 | CDH23 | c.8147A>T (p.Asp2716Val) c.2080A>T (n.2080A>T) c.1744A>T (n.1744A>T) c.8162A>T (p.Asp2721Val) c.1427A>T (p.Asp476Val) n.1683A>T c.8342A>T (p.Asp2781Val) c.8276A>T (p.Asp2759Val) c.8339A>T (p.Asp2780Val) c.8336A>T (p.Asp2779Val) c.8282A>T (p.Asp2761Val) c.8252A>T (p.Asp2751Val) c.8207A>T (p.Asp2736Val) c.7802A>T (p.Asp2601Val) c.7160A>T (p.Asp2387Val) c.4670A>T (p.Asp1557Val) | gnomAD v4 |
10 | g.71806251T>A | CA377162448 | CDH23 | c.8148T>A (p.Asp2716Glu) c.2081T>A (n.2081T>A) c.1745T>A (n.1745T>A) c.8163T>A (p.Asp2721Glu) c.1428T>A (p.Asp476Glu) n.1684T>A c.8343T>A (p.Asp2781Glu) c.8277T>A (p.Asp2759Glu) c.8340T>A (p.Asp2780Glu) c.8337T>A (p.Asp2779Glu) c.8283T>A (p.Asp2761Glu) c.8253T>A (p.Asp2751Glu) c.8208T>A (p.Asp2736Glu) c.7803T>A (p.Asp2601Glu) c.7161T>A (p.Asp2387Glu) c.4671T>A (p.Asp1557Glu) | |
10 | g.71806251T>C | CA470063426 | CDH23 | c.8148T>C (p.Asp2716=) c.2081T>C (n.2081T>C) c.1745T>C (n.1745T>C) c.8163T>C (p.Asp2721=) c.1428T>C (p.Asp476=) n.1684T>C c.8343T>C (p.Asp2781=) c.8277T>C (p.Asp2759=) c.8340T>C (p.Asp2780=) c.8337T>C (p.Asp2779=) c.8283T>C (p.Asp2761=) c.8253T>C (p.Asp2751=) c.8208T>C (p.Asp2736=) c.7803T>C (p.Asp2601=) c.7161T>C (p.Asp2387=) c.4671T>C (p.Asp1557=) | |
10 | g.71806251T>G | CA377162449 | CDH23 | c.8148T>G (p.Asp2716Glu) c.2081T>G (n.2081T>G) c.1745T>G (n.1745T>G) c.8163T>G (p.Asp2721Glu) c.1428T>G (p.Asp476Glu) n.1684T>G c.8343T>G (p.Asp2781Glu) c.8277T>G (p.Asp2759Glu) c.8340T>G (p.Asp2780Glu) c.8337T>G (p.Asp2779Glu) c.8283T>G (p.Asp2761Glu) c.8253T>G (p.Asp2751Glu) c.8208T>G (p.Asp2736Glu) c.7803T>G (p.Asp2601Glu) c.7161T>G (p.Asp2387Glu) c.4671T>G (p.Asp1557Glu) | gnomAD v4 |
10 | g.71806252G>A | CA377162450 | CDH23 | c.8149G>A (p.Asp2717Asn) c.2082G>A (n.2082G>A) c.1746G>A (n.1746G>A) c.8164G>A (p.Asp2722Asn) c.1429G>A (p.Asp477Asn) n.1685G>A c.8344G>A (p.Asp2782Asn) c.8278G>A (p.Asp2760Asn) c.8341G>A (p.Asp2781Asn) c.8338G>A (p.Asp2780Asn) c.8284G>A (p.Asp2762Asn) c.8254G>A (p.Asp2752Asn) c.8209G>A (p.Asp2737Asn) c.7804G>A (p.Asp2602Asn) c.7162G>A (p.Asp2388Asn) c.4672G>A (p.Asp1558Asn) | gnomAD v4 |
10 | g.71806252G>C | CA377162451 | CDH23 | c.8149G>C (p.Asp2717His) c.2082G>C (n.2082G>C) c.1746G>C (n.1746G>C) c.8164G>C (p.Asp2722His) c.1429G>C (p.Asp477His) n.1685G>C c.8344G>C (p.Asp2782His) c.8278G>C (p.Asp2760His) c.8341G>C (p.Asp2781His) c.8338G>C (p.Asp2780His) c.8284G>C (p.Asp2762His) c.8254G>C (p.Asp2752His) c.8209G>C (p.Asp2737His) c.7804G>C (p.Asp2602His) c.7162G>C (p.Asp2388His) c.4672G>C (p.Asp1558His) | |
10 | g.71806252G>T | CA377162452 | CDH23 | c.8149G>T (p.Asp2717Tyr) c.2082G>T (n.2082G>T) c.1746G>T (n.1746G>T) c.8164G>T (p.Asp2722Tyr) c.1429G>T (p.Asp477Tyr) n.1685G>T c.8344G>T (p.Asp2782Tyr) c.8278G>T (p.Asp2760Tyr) c.8341G>T (p.Asp2781Tyr) c.8338G>T (p.Asp2780Tyr) c.8284G>T (p.Asp2762Tyr) c.8254G>T (p.Asp2752Tyr) c.8209G>T (p.Asp2737Tyr) c.7804G>T (p.Asp2602Tyr) c.7162G>T (p.Asp2388Tyr) c.4672G>T (p.Asp1558Tyr) | gnomAD v4 |
10 | g.71806253A>C | CA377162453 | CDH23 | c.8150A>C (p.Asp2717Ala) c.2083A>C (n.2083A>C) c.1747A>C (n.1747A>C) c.8165A>C (p.Asp2722Ala) c.1430A>C (p.Asp477Ala) n.1686A>C c.8345A>C (p.Asp2782Ala) c.8279A>C (p.Asp2760Ala) c.8342A>C (p.Asp2781Ala) c.8339A>C (p.Asp2780Ala) c.8285A>C (p.Asp2762Ala) c.8255A>C (p.Asp2752Ala) c.8210A>C (p.Asp2737Ala) c.7805A>C (p.Asp2602Ala) c.7163A>C (p.Asp2388Ala) c.4673A>C (p.Asp1558Ala) | |
10 | g.71806253A>G | CA377162454 | CDH23 | c.8150A>G (p.Asp2717Gly) c.2083A>G (n.2083A>G) c.1747A>G (n.1747A>G) c.8165A>G (p.Asp2722Gly) c.1430A>G (p.Asp477Gly) n.1686A>G c.8345A>G (p.Asp2782Gly) c.8279A>G (p.Asp2760Gly) c.8342A>G (p.Asp2781Gly) c.8339A>G (p.Asp2780Gly) c.8285A>G (p.Asp2762Gly) c.8255A>G (p.Asp2752Gly) c.8210A>G (p.Asp2737Gly) c.7805A>G (p.Asp2602Gly) c.7163A>G (p.Asp2388Gly) c.4673A>G (p.Asp1558Gly) | gnomAD v4 |
10 | g.71806253A>T | CA377162455 | CDH23 | c.8150A>T (p.Asp2717Val) c.2083A>T (n.2083A>T) c.1747A>T (n.1747A>T) c.8165A>T (p.Asp2722Val) c.1430A>T (p.Asp477Val) n.1686A>T c.8345A>T (p.Asp2782Val) c.8279A>T (p.Asp2760Val) c.8342A>T (p.Asp2781Val) c.8339A>T (p.Asp2780Val) c.8285A>T (p.Asp2762Val) c.8255A>T (p.Asp2752Val) c.8210A>T (p.Asp2737Val) c.7805A>T (p.Asp2602Val) c.7163A>T (p.Asp2388Val) c.4673A>T (p.Asp1558Val) | |
10 | g.71806254C>A | CA377162456 | CDH23 | c.8151C>A (p.Asp2717Glu) c.2084C>A (n.2084C>A) c.1748C>A (n.1748C>A) c.8166C>A (p.Asp2722Glu) c.1431C>A (p.Asp477Glu) n.1687C>A c.8346C>A (p.Asp2782Glu) c.8280C>A (p.Asp2760Glu) c.8343C>A (p.Asp2781Glu) c.8340C>A (p.Asp2780Glu) c.8286C>A (p.Asp2762Glu) c.8256C>A (p.Asp2752Glu) c.8211C>A (p.Asp2737Glu) c.7806C>A (p.Asp2602Glu) c.7164C>A (p.Asp2388Glu) c.4674C>A (p.Asp1558Glu) | gnomAD v4 |
10 | g.71806254C>G | CA377162457 | CDH23 | c.8151C>G (p.Asp2717Glu) c.2084C>G (n.2084C>G) c.1748C>G (n.1748C>G) c.8166C>G (p.Asp2722Glu) c.1431C>G (p.Asp477Glu) n.1687C>G c.8346C>G (p.Asp2782Glu) c.8280C>G (p.Asp2760Glu) c.8343C>G (p.Asp2781Glu) c.8340C>G (p.Asp2780Glu) c.8286C>G (p.Asp2762Glu) c.8256C>G (p.Asp2752Glu) c.8211C>G (p.Asp2737Glu) c.7806C>G (p.Asp2602Glu) c.7164C>G (p.Asp2388Glu) c.4674C>G (p.Asp1558Glu) | gnomAD v4 |
10 | g.71806254C>T | CA470063431 | CDH23 | c.8151C>T (p.Asp2717=) c.2084C>T (n.2084C>T) c.1748C>T (n.1748C>T) c.8166C>T (p.Asp2722=) c.1431C>T (p.Asp477=) n.1687C>T c.8346C>T (p.Asp2782=) c.8280C>T (p.Asp2760=) c.8343C>T (p.Asp2781=) c.8340C>T (p.Asp2780=) c.8286C>T (p.Asp2762=) c.8256C>T (p.Asp2752=) c.8211C>T (p.Asp2737=) c.7806C>T (p.Asp2602=) c.7164C>T (p.Asp2388=) c.4674C>T (p.Asp1558=) | gnomAD v4 |
10 | g.71806255A>C | CA377162458 | CDH23 | c.8152A>C (p.Asn2718His) c.2085A>C (n.2085A>C) c.1749A>C (n.1749A>C) c.8167A>C (p.Asn2723His) c.1432A>C (p.Asn478His) n.1688A>C c.8347A>C (p.Asn2783His) c.8281A>C (p.Asn2761His) c.8344A>C (p.Asn2782His) c.8341A>C (p.Asn2781His) c.8287A>C (p.Asn2763His) c.8257A>C (p.Asn2753His) c.8212A>C (p.Asn2738His) c.7807A>C (p.Asn2603His) c.7165A>C (p.Asn2389His) c.4675A>C (p.Asn1559His) | |
10 | g.71806255A>G | CA377162460 | CDH23 | c.8152A>G (p.Asn2718Asp) c.2085A>G (n.2085A>G) c.1749A>G (n.1749A>G) c.8167A>G (p.Asn2723Asp) c.1432A>G (p.Asn478Asp) n.1688A>G c.8347A>G (p.Asn2783Asp) c.8281A>G (p.Asn2761Asp) c.8344A>G (p.Asn2782Asp) c.8341A>G (p.Asn2781Asp) c.8287A>G (p.Asn2763Asp) c.8257A>G (p.Asn2753Asp) c.8212A>G (p.Asn2738Asp) c.7807A>G (p.Asn2603Asp) c.7165A>G (p.Asn2389Asp) c.4675A>G (p.Asn1559Asp) | gnomAD v4 |
10 | g.71806255A>T | CA377162459 | CDH23 | c.8152A>T (p.Asn2718Tyr) c.2085A>T (n.2085A>T) c.1749A>T (n.1749A>T) c.8167A>T (p.Asn2723Tyr) c.1432A>T (p.Asn478Tyr) n.1688A>T c.8347A>T (p.Asn2783Tyr) c.8281A>T (p.Asn2761Tyr) c.8344A>T (p.Asn2782Tyr) c.8341A>T (p.Asn2781Tyr) c.8287A>T (p.Asn2763Tyr) c.8257A>T (p.Asn2753Tyr) c.8212A>T (p.Asn2738Tyr) c.7807A>T (p.Asn2603Tyr) c.7165A>T (p.Asn2389Tyr) c.4675A>T (p.Asn1559Tyr) | gnomAD v4 |
10 | g.71806256A>C | CA377162461 | CDH23 | c.8153A>C (p.Asn2718Thr) c.2086A>C (n.2086A>C) c.1750A>C (n.1750A>C) c.8168A>C (p.Asn2723Thr) c.1433A>C (p.Asn478Thr) n.1689A>C c.8348A>C (p.Asn2783Thr) c.8282A>C (p.Asn2761Thr) c.8345A>C (p.Asn2782Thr) c.8342A>C (p.Asn2781Thr) c.8288A>C (p.Asn2763Thr) c.8258A>C (p.Asn2753Thr) c.8213A>C (p.Asn2738Thr) c.7808A>C (p.Asn2603Thr) c.7166A>C (p.Asn2389Thr) c.4676A>C (p.Asn1559Thr) | |
10 | g.71806256A>G | CA377162462 | CDH23 | c.8153A>G (p.Asn2718Ser) c.2086A>G (n.2086A>G) c.1750A>G (n.1750A>G) c.8168A>G (p.Asn2723Ser) c.1433A>G (p.Asn478Ser) n.1689A>G c.8348A>G (p.Asn2783Ser) c.8282A>G (p.Asn2761Ser) c.8345A>G (p.Asn2782Ser) c.8342A>G (p.Asn2781Ser) c.8288A>G (p.Asn2763Ser) c.8258A>G (p.Asn2753Ser) c.8213A>G (p.Asn2738Ser) c.7808A>G (p.Asn2603Ser) c.7166A>G (p.Asn2389Ser) c.4676A>G (p.Asn1559Ser) | gnomAD v4 |
10 | g.71806256A>T | CA377162463 | CDH23 | c.8153A>T (p.Asn2718Ile) c.2086A>T (n.2086A>T) c.1750A>T (n.1750A>T) c.8168A>T (p.Asn2723Ile) c.1433A>T (p.Asn478Ile) n.1689A>T c.8348A>T (p.Asn2783Ile) c.8282A>T (p.Asn2761Ile) c.8345A>T (p.Asn2782Ile) c.8342A>T (p.Asn2781Ile) c.8288A>T (p.Asn2763Ile) c.8258A>T (p.Asn2753Ile) c.8213A>T (p.Asn2738Ile) c.7808A>T (p.Asn2603Ile) c.7166A>T (p.Asn2389Ile) c.4676A>T (p.Asn1559Ile) | |
10 | g.71806257C>A | CA377162464 | CDH23 | c.8154C>A (p.Asn2718Lys) c.2087C>A (n.2087C>A) c.1751C>A (n.1751C>A) c.8169C>A (p.Asn2723Lys) c.1434C>A (p.Asn478Lys) n.1690C>A c.8349C>A (p.Asn2783Lys) c.8283C>A (p.Asn2761Lys) c.8346C>A (p.Asn2782Lys) c.8343C>A (p.Asn2781Lys) c.8289C>A (p.Asn2763Lys) c.8259C>A (p.Asn2753Lys) c.8214C>A (p.Asn2738Lys) c.7809C>A (p.Asn2603Lys) c.7167C>A (p.Asn2389Lys) c.4677C>A (p.Asn1559Lys) | gnomAD v4 |
10 | g.71806257C= | CA1918885058 | CDH23 | c.8154C= (p.Asn2718=) c.2087C= (n.2087C=) c.1751C= (n.1751C=) c.8169C= (p.Asn2723=) c.1434C= (p.Asn478=) n.1690C= c.8349C= (p.Asn2783=) c.8283C= (p.Asn2761=) c.8346C= (p.Asn2782=) c.8343C= (p.Asn2781=) c.8289C= (p.Asn2763=) c.8259C= (p.Asn2753=) c.8214C= (p.Asn2738=) c.7809C= (p.Asn2603=) c.7167C= (p.Asn2389=) c.4677C= (p.Asn1559=) | |
10 | g.71806257C>G | CA377162465 | CDH23 | c.8154C>G (p.Asn2718Lys) c.2087C>G (n.2087C>G) c.1751C>G (n.1751C>G) c.8169C>G (p.Asn2723Lys) c.1434C>G (p.Asn478Lys) n.1690C>G c.8349C>G (p.Asn2783Lys) c.8283C>G (p.Asn2761Lys) c.8346C>G (p.Asn2782Lys) c.8343C>G (p.Asn2781Lys) c.8289C>G (p.Asn2763Lys) c.8259C>G (p.Asn2753Lys) c.8214C>G (p.Asn2738Lys) c.7809C>G (p.Asn2603Lys) c.7167C>G (p.Asn2389Lys) c.4677C>G (p.Asn1559Lys) | |
10 | g.71806257C>T | CA470063437 | CDH23 | c.8154C>T (p.Asn2718=) c.2087C>T (n.2087C>T) c.1751C>T (n.1751C>T) c.8169C>T (p.Asn2723=) c.1434C>T (p.Asn478=) n.1690C>T c.8349C>T (p.Asn2783=) c.8283C>T (p.Asn2761=) c.8346C>T (p.Asn2782=) c.8343C>T (p.Asn2781=) c.8289C>T (p.Asn2763=) c.8259C>T (p.Asn2753=) c.8214C>T (p.Asn2738=) c.7809C>T (p.Asn2603=) c.7167C>T (p.Asn2389=) c.4677C>T (p.Asn1559=) | ClinVar dbSNP gnomAD v4 COSMIC |
10 | g.71806258G>A | CA5546557 | CDH23 | c.8155G>A (p.Glu2719Lys) c.2088G>A (n.2088G>A) c.1752G>A (n.1752G>A) c.8170G>A (p.Glu2724Lys) c.1435G>A (p.Glu479Lys) n.1691G>A c.8350G>A (p.Glu2784Lys) c.8284G>A (p.Glu2762Lys) c.8347G>A (p.Glu2783Lys) c.8344G>A (p.Glu2782Lys) c.8290G>A (p.Glu2764Lys) c.8260G>A (p.Glu2754Lys) c.8215G>A (p.Glu2739Lys) c.7810G>A (p.Glu2604Lys) c.7168G>A (p.Glu2390Lys) c.4678G>A (p.Glu1560Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71806258G>C | CA377162466 | CDH23 | c.8155G>C (p.Glu2719Gln) c.2088G>C (n.2088G>C) c.1752G>C (n.1752G>C) c.8170G>C (p.Glu2724Gln) c.1435G>C (p.Glu479Gln) n.1691G>C c.8350G>C (p.Glu2784Gln) c.8284G>C (p.Glu2762Gln) c.8347G>C (p.Glu2783Gln) c.8344G>C (p.Glu2782Gln) c.8290G>C (p.Glu2764Gln) c.8260G>C (p.Glu2754Gln) c.8215G>C (p.Glu2739Gln) c.7810G>C (p.Glu2604Gln) c.7168G>C (p.Glu2390Gln) c.4678G>C (p.Glu1560Gln) | |
10 | g.71806258G= | CA1918885063 | CDH23 | c.8155G= (p.Glu2719=) c.2088G= (n.2088G=) c.1752G= (n.1752G=) c.8170G= (p.Glu2724=) c.1435G= (p.Glu479=) n.1691G= c.8350G= (p.Glu2784=) c.8284G= (p.Glu2762=) c.8347G= (p.Glu2783=) c.8344G= (p.Glu2782=) c.8290G= (p.Glu2764=) c.8260G= (p.Glu2754=) c.8215G= (p.Glu2739=) c.7810G= (p.Glu2604=) c.7168G= (p.Glu2390=) c.4678G= (p.Glu1560=) | |
10 | g.71806258G>T | CA377162467 | CDH23 | c.8155G>T (p.Glu2719Ter) c.2088G>T (n.2088G>T) c.1752G>T (n.1752G>T) c.8170G>T (p.Glu2724Ter) c.1435G>T (p.Glu479Ter) n.1691G>T c.8350G>T (p.Glu2784Ter) c.8284G>T (p.Glu2762Ter) c.8347G>T (p.Glu2783Ter) c.8344G>T (p.Glu2782Ter) c.8290G>T (p.Glu2764Ter) c.8260G>T (p.Glu2754Ter) c.8215G>T (p.Glu2739Ter) c.7810G>T (p.Glu2604Ter) c.7168G>T (p.Glu2390Ter) c.4678G>T (p.Glu1560Ter) | gnomAD v4 |
10 | g.71806259A>C | CA377162468 | CDH23 | c.8156A>C (p.Glu2719Ala) c.2089A>C (n.2089A>C) c.1753A>C (n.1753A>C) c.8171A>C (p.Glu2724Ala) c.1436A>C (p.Glu479Ala) n.1692A>C c.8351A>C (p.Glu2784Ala) c.8285A>C (p.Glu2762Ala) c.8348A>C (p.Glu2783Ala) c.8345A>C (p.Glu2782Ala) c.8291A>C (p.Glu2764Ala) c.8261A>C (p.Glu2754Ala) c.8216A>C (p.Glu2739Ala) c.7811A>C (p.Glu2604Ala) c.7169A>C (p.Glu2390Ala) c.4679A>C (p.Glu1560Ala) | gnomAD v4 |
10 | g.71806259A>G | CA377162469 | CDH23 | c.8156A>G (p.Glu2719Gly) c.2089A>G (n.2089A>G) c.1753A>G (n.1753A>G) c.8171A>G (p.Glu2724Gly) c.1436A>G (p.Glu479Gly) n.1692A>G c.8351A>G (p.Glu2784Gly) c.8285A>G (p.Glu2762Gly) c.8348A>G (p.Glu2783Gly) c.8345A>G (p.Glu2782Gly) c.8291A>G (p.Glu2764Gly) c.8261A>G (p.Glu2754Gly) c.8216A>G (p.Glu2739Gly) c.7811A>G (p.Glu2604Gly) c.7169A>G (p.Glu2390Gly) c.4679A>G (p.Glu1560Gly) | |
10 | g.71806259A>T | CA377162470 | CDH23 | c.8156A>T (p.Glu2719Val) c.2089A>T (n.2089A>T) c.1753A>T (n.1753A>T) c.8171A>T (p.Glu2724Val) c.1436A>T (p.Glu479Val) n.1692A>T c.8351A>T (p.Glu2784Val) c.8285A>T (p.Glu2762Val) c.8348A>T (p.Glu2783Val) c.8345A>T (p.Glu2782Val) c.8291A>T (p.Glu2764Val) c.8261A>T (p.Glu2754Val) c.8216A>T (p.Glu2739Val) c.7811A>T (p.Glu2604Val) c.7169A>T (p.Glu2390Val) c.4679A>T (p.Glu1560Val) | gnomAD v4 |
10 | g.71806260A>C | CA377162471 | CDH23 | c.8157A>C (p.Glu2719Asp) c.2090A>C (n.2090A>C) c.1754A>C (n.1754A>C) c.8172A>C (p.Glu2724Asp) c.1437A>C (p.Glu479Asp) n.1693A>C c.8352A>C (p.Glu2784Asp) c.8286A>C (p.Glu2762Asp) c.8349A>C (p.Glu2783Asp) c.8346A>C (p.Glu2782Asp) c.8292A>C (p.Glu2764Asp) c.8262A>C (p.Glu2754Asp) c.8217A>C (p.Glu2739Asp) c.7812A>C (p.Glu2604Asp) c.7170A>C (p.Glu2390Asp) c.4680A>C (p.Glu1560Asp) | |
10 | g.71806260A>G | CA470063442 | CDH23 | c.8157A>G (p.Glu2719=) c.2090A>G (n.2090A>G) c.1754A>G (n.1754A>G) c.8172A>G (p.Glu2724=) c.1437A>G (p.Glu479=) n.1693A>G c.8352A>G (p.Glu2784=) c.8286A>G (p.Glu2762=) c.8349A>G (p.Glu2783=) c.8346A>G (p.Glu2782=) c.8292A>G (p.Glu2764=) c.8262A>G (p.Glu2754=) c.8217A>G (p.Glu2739=) c.7812A>G (p.Glu2604=) c.7170A>G (p.Glu2390=) c.4680A>G (p.Glu1560=) | gnomAD v4 |
10 | g.71806260A>T | CA377162472 | CDH23 | c.8157A>T (p.Glu2719Asp) c.2090A>T (n.2090A>T) c.1754A>T (n.1754A>T) c.8172A>T (p.Glu2724Asp) c.1437A>T (p.Glu479Asp) n.1693A>T c.8352A>T (p.Glu2784Asp) c.8286A>T (p.Glu2762Asp) c.8349A>T (p.Glu2783Asp) c.8346A>T (p.Glu2782Asp) c.8292A>T (p.Glu2764Asp) c.8262A>T (p.Glu2754Asp) c.8217A>T (p.Glu2739Asp) c.7812A>T (p.Glu2604Asp) c.7170A>T (p.Glu2390Asp) c.4680A>T (p.Glu1560Asp) | |
10 | g.71806260_71806261delinsAC | CA1918885066 | CDH23 | c.8157_8158delinsAC (p.Glu2719=) c.2090_2091delinsAC (n.2090_2091delinsAC) c.1754_1755delinsAC (n.1754_1755delinsAC) c.8172_8173delinsAC (p.Glu2724=) c.1437_1438delinsAC (p.Glu479=) n.1693_1694delinsAC c.8352_8353delinsAC (p.Glu2784=) c.8286_8287delinsAC (p.Glu2762=) c.8349_8350delinsAC (p.Glu2783=) c.8346_8347delinsAC (p.Glu2782=) c.8292_8293delinsAC (p.Glu2764=) c.8262_8263delinsAC (p.Glu2754=) c.8217_8218delinsAC (p.Glu2739=) c.7812_7813delinsAC (p.Glu2604=) c.7170_7171delinsAC (p.Glu2390=) c.4680_4681delinsAC (p.Glu1560=) | |
10 | g.71806261C>A | CA209474447 | CDH23 | c.8158C>A (p.Pro2720Thr) c.2091C>A (n.2091C>A) c.1755C>A (n.1755C>A) c.8173C>A (p.Pro2725Thr) c.1438C>A (p.Pro480Thr) n.1694C>A c.8353C>A (p.Pro2785Thr) c.8287C>A (p.Pro2763Thr) c.8350C>A (p.Pro2784Thr) c.8347C>A (p.Pro2783Thr) c.8293C>A (p.Pro2765Thr) c.8263C>A (p.Pro2755Thr) c.8218C>A (p.Pro2740Thr) c.7813C>A (p.Pro2605Thr) c.7171C>A (p.Pro2391Thr) c.4681C>A (p.Pro1561Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71806261C= | CA1918885069 | CDH23 | c.8158C= (p.Pro2720=) c.2091C= (n.2091C=) c.1755C= (n.1755C=) c.8173C= (p.Pro2725=) c.1438C= (p.Pro480=) n.1694C= c.8353C= (p.Pro2785=) c.8287C= (p.Pro2763=) c.8350C= (p.Pro2784=) c.8347C= (p.Pro2783=) c.8293C= (p.Pro2765=) c.8263C= (p.Pro2755=) c.8218C= (p.Pro2740=) c.7813C= (p.Pro2605=) c.7171C= (p.Pro2391=) c.4681C= (p.Pro1561=) | |
10 | g.71806261C>G | CA377162473 | CDH23 | c.8158C>G (p.Pro2720Ala) c.2091C>G (n.2091C>G) c.1755C>G (n.1755C>G) c.8173C>G (p.Pro2725Ala) c.1438C>G (p.Pro480Ala) n.1694C>G c.8353C>G (p.Pro2785Ala) c.8287C>G (p.Pro2763Ala) c.8350C>G (p.Pro2784Ala) c.8347C>G (p.Pro2783Ala) c.8293C>G (p.Pro2765Ala) c.8263C>G (p.Pro2755Ala) c.8218C>G (p.Pro2740Ala) c.7813C>G (p.Pro2605Ala) c.7171C>G (p.Pro2391Ala) c.4681C>G (p.Pro1561Ala) | |
10 | g.71806261C>T | CA377162474 | CDH23 | c.8158C>T (p.Pro2720Ser) c.2091C>T (n.2091C>T) c.1755C>T (n.1755C>T) c.8173C>T (p.Pro2725Ser) c.1438C>T (p.Pro480Ser) n.1694C>T c.8353C>T (p.Pro2785Ser) c.8287C>T (p.Pro2763Ser) c.8350C>T (p.Pro2784Ser) c.8347C>T (p.Pro2783Ser) c.8293C>T (p.Pro2765Ser) c.8263C>T (p.Pro2755Ser) c.8218C>T (p.Pro2740Ser) c.7813C>T (p.Pro2605Ser) c.7171C>T (p.Pro2391Ser) c.4681C>T (p.Pro1561Ser) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71806264del | CA5546558 | CDH23 | c.8161del (p.Leu2721PhefsTer3) c.2094del (n.2094del) c.1758del (n.1758del) c.8176del (p.Leu2726PhefsTer3) c.1441del (p.Leu481PhefsTer3) n.1697del c.8356del (p.Leu2786PhefsTer3) c.8290del (p.Leu2764PhefsTer3) c.8353del (p.Leu2785PhefsTer3) c.8350del (p.Leu2784PhefsTer3) c.8296del (p.Leu2766PhefsTer3) c.8266del (p.Leu2756PhefsTer3) c.8221del (p.Leu2741PhefsTer3) c.7816del (p.Leu2606PhefsTer3) c.7174del (p.Leu2392PhefsTer3) c.4684del (p.Leu1562PhefsTer3) | dbSNP ExAC |
10 | g.71806262C>A | CA377162475 | CDH23 | c.8159C>A (p.Pro2720His) c.2092C>A (n.2092C>A) c.1756C>A (n.1756C>A) c.8174C>A (p.Pro2725His) c.1439C>A (p.Pro480His) n.1695C>A c.8354C>A (p.Pro2785His) c.8288C>A (p.Pro2763His) c.8351C>A (p.Pro2784His) c.8348C>A (p.Pro2783His) c.8294C>A (p.Pro2765His) c.8264C>A (p.Pro2755His) c.8219C>A (p.Pro2740His) c.7814C>A (p.Pro2605His) c.7172C>A (p.Pro2391His) c.4682C>A (p.Pro1561His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71806262C= | CA1918885073 | CDH23 | c.8159C= (p.Pro2720=) c.2092C= (n.2092C=) c.1756C= (n.1756C=) c.8174C= (p.Pro2725=) c.1439C= (p.Pro480=) n.1695C= c.8354C= (p.Pro2785=) c.8288C= (p.Pro2763=) c.8351C= (p.Pro2784=) c.8348C= (p.Pro2783=) c.8294C= (p.Pro2765=) c.8264C= (p.Pro2755=) c.8219C= (p.Pro2740=) c.7814C= (p.Pro2605=) c.7172C= (p.Pro2391=) c.4682C= (p.Pro1561=) | |
10 | g.71806262C>G | CA377162476 | CDH23 | c.8159C>G (p.Pro2720Arg) c.2092C>G (n.2092C>G) c.1756C>G (n.1756C>G) c.8174C>G (p.Pro2725Arg) c.1439C>G (p.Pro480Arg) n.1695C>G c.8354C>G (p.Pro2785Arg) c.8288C>G (p.Pro2763Arg) c.8351C>G (p.Pro2784Arg) c.8348C>G (p.Pro2783Arg) c.8294C>G (p.Pro2765Arg) c.8264C>G (p.Pro2755Arg) c.8219C>G (p.Pro2740Arg) c.7814C>G (p.Pro2605Arg) c.7172C>G (p.Pro2391Arg) c.4682C>G (p.Pro1561Arg) | |
10 | g.71806262C>T | CA377162477 | CDH23 | c.8159C>T (p.Pro2720Leu) c.2092C>T (n.2092C>T) c.1756C>T (n.1756C>T) c.8174C>T (p.Pro2725Leu) c.1439C>T (p.Pro480Leu) n.1695C>T c.8354C>T (p.Pro2785Leu) c.8288C>T (p.Pro2763Leu) c.8351C>T (p.Pro2784Leu) c.8348C>T (p.Pro2783Leu) c.8294C>T (p.Pro2765Leu) c.8264C>T (p.Pro2755Leu) c.8219C>T (p.Pro2740Leu) c.7814C>T (p.Pro2605Leu) c.7172C>T (p.Pro2391Leu) c.4682C>T (p.Pro1561Leu) | |
10 | g.71806263C>A | CA470063450 | CDH23 | c.8160C>A (p.Pro2720=) c.2093C>A (n.2093C>A) c.1757C>A (n.1757C>A) c.8175C>A (p.Pro2725=) c.1440C>A (p.Pro480=) n.1696C>A c.8355C>A (p.Pro2785=) c.8289C>A (p.Pro2763=) c.8352C>A (p.Pro2784=) c.8349C>A (p.Pro2783=) c.8295C>A (p.Pro2765=) c.8265C>A (p.Pro2755=) c.8220C>A (p.Pro2740=) c.7815C>A (p.Pro2605=) c.7173C>A (p.Pro2391=) c.4683C>A (p.Pro1561=) | |
10 | g.71806263C= | CA1918885075 | CDH23 | c.8160C= (p.Pro2720=) c.2093C= (n.2093C=) c.1757C= (n.1757C=) c.8175C= (p.Pro2725=) c.1440C= (p.Pro480=) n.1696C= c.8355C= (p.Pro2785=) c.8289C= (p.Pro2763=) c.8352C= (p.Pro2784=) c.8349C= (p.Pro2783=) c.8295C= (p.Pro2765=) c.8265C= (p.Pro2755=) c.8220C= (p.Pro2740=) c.7815C= (p.Pro2605=) c.7173C= (p.Pro2391=) c.4683C= (p.Pro1561=) | |
10 | g.71806263C>G | CA470063453 | CDH23 | c.8160C>G (p.Pro2720=) c.2093C>G (n.2093C>G) c.1757C>G (n.1757C>G) c.8175C>G (p.Pro2725=) c.1440C>G (p.Pro480=) n.1696C>G c.8355C>G (p.Pro2785=) c.8289C>G (p.Pro2763=) c.8352C>G (p.Pro2784=) c.8349C>G (p.Pro2783=) c.8295C>G (p.Pro2765=) c.8265C>G (p.Pro2755=) c.8220C>G (p.Pro2740=) c.7815C>G (p.Pro2605=) c.7173C>G (p.Pro2391=) c.4683C>G (p.Pro1561=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806263C>T | CA470063452 | CDH23 | c.8160C>T (p.Pro2720=) c.2093C>T (n.2093C>T) c.1757C>T (n.1757C>T) c.8175C>T (p.Pro2725=) c.1440C>T (p.Pro480=) n.1696C>T c.8355C>T (p.Pro2785=) c.8289C>T (p.Pro2763=) c.8352C>T (p.Pro2784=) c.8349C>T (p.Pro2783=) c.8295C>T (p.Pro2765=) c.8265C>T (p.Pro2755=) c.8220C>T (p.Pro2740=) c.7815C>T (p.Pro2605=) c.7173C>T (p.Pro2391=) c.4683C>T (p.Pro1561=) | dbSNP gnomAD v2 |
10 | g.71806264C>A | CA377162478 | CDH23 | c.8161C>A (p.Leu2721Ile) c.2094C>A (n.2094C>A) c.1758C>A (n.1758C>A) c.8176C>A (p.Leu2726Ile) c.1441C>A (p.Leu481Ile) n.1697C>A c.8356C>A (p.Leu2786Ile) c.8290C>A (p.Leu2764Ile) c.8353C>A (p.Leu2785Ile) c.8350C>A (p.Leu2784Ile) c.8296C>A (p.Leu2766Ile) c.8266C>A (p.Leu2756Ile) c.8221C>A (p.Leu2741Ile) c.7816C>A (p.Leu2606Ile) c.7174C>A (p.Leu2392Ile) c.4684C>A (p.Leu1562Ile) | |
10 | g.71806264C>G | CA377162479 | CDH23 | c.8161C>G (p.Leu2721Val) c.2094C>G (n.2094C>G) c.1758C>G (n.1758C>G) c.8176C>G (p.Leu2726Val) c.1441C>G (p.Leu481Val) n.1697C>G c.8356C>G (p.Leu2786Val) c.8290C>G (p.Leu2764Val) c.8353C>G (p.Leu2785Val) c.8350C>G (p.Leu2784Val) c.8296C>G (p.Leu2766Val) c.8266C>G (p.Leu2756Val) c.8221C>G (p.Leu2741Val) c.7816C>G (p.Leu2606Val) c.7174C>G (p.Leu2392Val) c.4684C>G (p.Leu1562Val) | |
10 | g.71806264C>T | CA377162480 | CDH23 | c.8161C>T (p.Leu2721Phe) c.2094C>T (n.2094C>T) c.1758C>T (n.1758C>T) c.8176C>T (p.Leu2726Phe) c.1441C>T (p.Leu481Phe) n.1697C>T c.8356C>T (p.Leu2786Phe) c.8290C>T (p.Leu2764Phe) c.8353C>T (p.Leu2785Phe) c.8350C>T (p.Leu2784Phe) c.8296C>T (p.Leu2766Phe) c.8266C>T (p.Leu2756Phe) c.8221C>T (p.Leu2741Phe) c.7816C>T (p.Leu2606Phe) c.7174C>T (p.Leu2392Phe) c.4684C>T (p.Leu1562Phe) | |
10 | g.71806265T>A | CA377162481 | CDH23 | c.8162T>A (p.Leu2721His) c.2095T>A (n.2095T>A) c.1759T>A (n.1759T>A) c.8177T>A (p.Leu2726His) c.1442T>A (p.Leu481His) n.1698T>A c.8357T>A (p.Leu2786His) c.8291T>A (p.Leu2764His) c.8354T>A (p.Leu2785His) c.8351T>A (p.Leu2784His) c.8297T>A (p.Leu2766His) c.8267T>A (p.Leu2756His) c.8222T>A (p.Leu2741His) c.7817T>A (p.Leu2606His) c.7175T>A (p.Leu2392His) c.4685T>A (p.Leu1562His) | |
10 | g.71806265T>C | CA377162482 | CDH23 | c.8162T>C (p.Leu2721Pro) c.2095T>C (n.2095T>C) c.1759T>C (n.1759T>C) c.8177T>C (p.Leu2726Pro) c.1442T>C (p.Leu481Pro) n.1698T>C c.8357T>C (p.Leu2786Pro) c.8291T>C (p.Leu2764Pro) c.8354T>C (p.Leu2785Pro) c.8351T>C (p.Leu2784Pro) c.8297T>C (p.Leu2766Pro) c.8267T>C (p.Leu2756Pro) c.8222T>C (p.Leu2741Pro) c.7817T>C (p.Leu2606Pro) c.7175T>C (p.Leu2392Pro) c.4685T>C (p.Leu1562Pro) | gnomAD v4 |
10 | g.71806265T>G | CA377162483 | CDH23 | c.8162T>G (p.Leu2721Arg) c.2095T>G (n.2095T>G) c.1759T>G (n.1759T>G) c.8177T>G (p.Leu2726Arg) c.1442T>G (p.Leu481Arg) n.1698T>G c.8357T>G (p.Leu2786Arg) c.8291T>G (p.Leu2764Arg) c.8354T>G (p.Leu2785Arg) c.8351T>G (p.Leu2784Arg) c.8297T>G (p.Leu2766Arg) c.8267T>G (p.Leu2756Arg) c.8222T>G (p.Leu2741Arg) c.7817T>G (p.Leu2606Arg) c.7175T>G (p.Leu2392Arg) c.4685T>G (p.Leu1562Arg) | |
10 | g.71806268del | CA2609584546 | CDH23 | c.8165del (p.Phe2722SerfsTer2) c.2098del (n.2098del) c.1762del (n.1762del) c.8180del (p.Phe2727SerfsTer2) c.1445del (p.Phe482SerfsTer2) n.1701del c.8360del (p.Phe2787SerfsTer2) c.8294del (p.Phe2765SerfsTer2) c.8357del (p.Phe2786SerfsTer2) c.8354del (p.Phe2785SerfsTer2) c.8300del (p.Phe2767SerfsTer2) c.8270del (p.Phe2757SerfsTer2) c.8225del (p.Phe2742SerfsTer2) c.7820del (p.Phe2607SerfsTer2) c.7178del (p.Phe2393SerfsTer2) c.4688del (p.Phe1563SerfsTer2) | gnomAD v4 |
10 | g.71806266T>A | CA470063460 | CDH23 | c.8163T>A (p.Leu2721=) c.2096T>A (n.2096T>A) c.1760T>A (n.1760T>A) c.8178T>A (p.Leu2726=) c.1443T>A (p.Leu481=) n.1699T>A c.8358T>A (p.Leu2786=) c.8292T>A (p.Leu2764=) c.8355T>A (p.Leu2785=) c.8352T>A (p.Leu2784=) c.8298T>A (p.Leu2766=) c.8268T>A (p.Leu2756=) c.8223T>A (p.Leu2741=) c.7818T>A (p.Leu2606=) c.7176T>A (p.Leu2392=) c.4686T>A (p.Leu1562=) | |
10 | g.71806266T>C | CA470063461 | CDH23 | c.8163T>C (p.Leu2721=) c.2096T>C (n.2096T>C) c.1760T>C (n.1760T>C) c.8178T>C (p.Leu2726=) c.1443T>C (p.Leu481=) n.1699T>C c.8358T>C (p.Leu2786=) c.8292T>C (p.Leu2764=) c.8355T>C (p.Leu2785=) c.8352T>C (p.Leu2784=) c.8298T>C (p.Leu2766=) c.8268T>C (p.Leu2756=) c.8223T>C (p.Leu2741=) c.7818T>C (p.Leu2606=) c.7176T>C (p.Leu2392=) c.4686T>C (p.Leu1562=) | gnomAD v4 |
10 | g.71806266T>G | CA470063463 | CDH23 | c.8163T>G (p.Leu2721=) c.2096T>G (n.2096T>G) c.1760T>G (n.1760T>G) c.8178T>G (p.Leu2726=) c.1443T>G (p.Leu481=) n.1699T>G c.8358T>G (p.Leu2786=) c.8292T>G (p.Leu2764=) c.8355T>G (p.Leu2785=) c.8352T>G (p.Leu2784=) c.8298T>G (p.Leu2766=) c.8268T>G (p.Leu2756=) c.8223T>G (p.Leu2741=) c.7818T>G (p.Leu2606=) c.7176T>G (p.Leu2392=) c.4686T>G (p.Leu1562=) | |
10 | g.71806267T>A | CA377162486 | CDH23 | c.8164T>A (p.Phe2722Ile) c.2097T>A (n.2097T>A) c.1761T>A (n.1761T>A) c.8179T>A (p.Phe2727Ile) c.1444T>A (p.Phe482Ile) n.1700T>A c.8359T>A (p.Phe2787Ile) c.8293T>A (p.Phe2765Ile) c.8356T>A (p.Phe2786Ile) c.8353T>A (p.Phe2785Ile) c.8299T>A (p.Phe2767Ile) c.8269T>A (p.Phe2757Ile) c.8224T>A (p.Phe2742Ile) c.7819T>A (p.Phe2607Ile) c.7177T>A (p.Phe2393Ile) c.4687T>A (p.Phe1563Ile) | |
10 | g.71806267T>C | CA377162484 | CDH23 | c.8164T>C (p.Phe2722Leu) c.2097T>C (n.2097T>C) c.1761T>C (n.1761T>C) c.8179T>C (p.Phe2727Leu) c.1444T>C (p.Phe482Leu) n.1700T>C c.8359T>C (p.Phe2787Leu) c.8293T>C (p.Phe2765Leu) c.8356T>C (p.Phe2786Leu) c.8353T>C (p.Phe2785Leu) c.8299T>C (p.Phe2767Leu) c.8269T>C (p.Phe2757Leu) c.8224T>C (p.Phe2742Leu) c.7819T>C (p.Phe2607Leu) c.7177T>C (p.Phe2393Leu) c.4687T>C (p.Phe1563Leu) | |
10 | g.71806267T>G | CA377162485 | CDH23 | c.8164T>G (p.Phe2722Val) c.2097T>G (n.2097T>G) c.1761T>G (n.1761T>G) c.8179T>G (p.Phe2727Val) c.1444T>G (p.Phe482Val) n.1700T>G c.8359T>G (p.Phe2787Val) c.8293T>G (p.Phe2765Val) c.8356T>G (p.Phe2786Val) c.8353T>G (p.Phe2785Val) c.8299T>G (p.Phe2767Val) c.8269T>G (p.Phe2757Val) c.8224T>G (p.Phe2742Val) c.7819T>G (p.Phe2607Val) c.7177T>G (p.Phe2393Val) c.4687T>G (p.Phe1563Val) | |
10 | g.71806268T>A | CA377162487 | CDH23 | c.8165T>A (p.Phe2722Tyr) c.2098T>A (n.2098T>A) c.1762T>A (n.1762T>A) c.8180T>A (p.Phe2727Tyr) c.1445T>A (p.Phe482Tyr) n.1701T>A c.8360T>A (p.Phe2787Tyr) c.8294T>A (p.Phe2765Tyr) c.8357T>A (p.Phe2786Tyr) c.8354T>A (p.Phe2785Tyr) c.8300T>A (p.Phe2767Tyr) c.8270T>A (p.Phe2757Tyr) c.8225T>A (p.Phe2742Tyr) c.7820T>A (p.Phe2607Tyr) c.7178T>A (p.Phe2393Tyr) c.4688T>A (p.Phe1563Tyr) | |
10 | g.71806268T>C | CA377162488 | CDH23 | c.8165T>C (p.Phe2722Ser) c.2098T>C (n.2098T>C) c.1762T>C (n.1762T>C) c.8180T>C (p.Phe2727Ser) c.1445T>C (p.Phe482Ser) n.1701T>C c.8360T>C (p.Phe2787Ser) c.8294T>C (p.Phe2765Ser) c.8357T>C (p.Phe2786Ser) c.8354T>C (p.Phe2785Ser) c.8300T>C (p.Phe2767Ser) c.8270T>C (p.Phe2757Ser) c.8225T>C (p.Phe2742Ser) c.7820T>C (p.Phe2607Ser) c.7178T>C (p.Phe2393Ser) c.4688T>C (p.Phe1563Ser) | gnomAD v4 |
10 | g.71806268T>G | CA377162489 | CDH23 | c.8165T>G (p.Phe2722Cys) c.2098T>G (n.2098T>G) c.1762T>G (n.1762T>G) c.8180T>G (p.Phe2727Cys) c.1445T>G (p.Phe482Cys) n.1701T>G c.8360T>G (p.Phe2787Cys) c.8294T>G (p.Phe2765Cys) c.8357T>G (p.Phe2786Cys) c.8354T>G (p.Phe2785Cys) c.8300T>G (p.Phe2767Cys) c.8270T>G (p.Phe2757Cys) c.8225T>G (p.Phe2742Cys) c.7820T>G (p.Phe2607Cys) c.7178T>G (p.Phe2393Cys) c.4688T>G (p.Phe1563Cys) | |
10 | g.71806269C>A | CA377162490 | CDH23 | c.8166C>A (p.Phe2722Leu) c.2099C>A (n.2099C>A) c.1763C>A (n.1763C>A) c.8181C>A (p.Phe2727Leu) c.1446C>A (p.Phe482Leu) n.1702C>A c.8361C>A (p.Phe2787Leu) c.8295C>A (p.Phe2765Leu) c.8358C>A (p.Phe2786Leu) c.8355C>A (p.Phe2785Leu) c.8301C>A (p.Phe2767Leu) c.8271C>A (p.Phe2757Leu) c.8226C>A (p.Phe2742Leu) c.7821C>A (p.Phe2607Leu) c.7179C>A (p.Phe2393Leu) c.4689C>A (p.Phe1563Leu) | gnomAD v4 |
10 | g.71806269C= | CA1918885078 | CDH23 | c.8166C= (p.Phe2722=) c.2099C= (n.2099C=) c.1763C= (n.1763C=) c.8181C= (p.Phe2727=) c.1446C= (p.Phe482=) n.1702C= c.8361C= (p.Phe2787=) c.8295C= (p.Phe2765=) c.8358C= (p.Phe2786=) c.8355C= (p.Phe2785=) c.8301C= (p.Phe2767=) c.8271C= (p.Phe2757=) c.8226C= (p.Phe2742=) c.7821C= (p.Phe2607=) c.7179C= (p.Phe2393=) c.4689C= (p.Phe1563=) | |
10 | g.71806269C>G | CA377162491 | CDH23 | c.8166C>G (p.Phe2722Leu) c.2099C>G (n.2099C>G) c.1763C>G (n.1763C>G) c.8181C>G (p.Phe2727Leu) c.1446C>G (p.Phe482Leu) n.1702C>G c.8361C>G (p.Phe2787Leu) c.8295C>G (p.Phe2765Leu) c.8358C>G (p.Phe2786Leu) c.8355C>G (p.Phe2785Leu) c.8301C>G (p.Phe2767Leu) c.8271C>G (p.Phe2757Leu) c.8226C>G (p.Phe2742Leu) c.7821C>G (p.Phe2607Leu) c.7179C>G (p.Phe2393Leu) c.4689C>G (p.Phe1563Leu) | |
10 | g.71806269C>T | CA5546559 | CDH23 | c.8166C>T (p.Phe2722=) c.2099C>T (n.2099C>T) c.1763C>T (n.1763C>T) c.8181C>T (p.Phe2727=) c.1446C>T (p.Phe482=) n.1702C>T c.8361C>T (p.Phe2787=) c.8295C>T (p.Phe2765=) c.8358C>T (p.Phe2786=) c.8355C>T (p.Phe2785=) c.8301C>T (p.Phe2767=) c.8271C>T (p.Phe2757=) c.8226C>T (p.Phe2742=) c.7821C>T (p.Phe2607=) c.7179C>T (p.Phe2393=) c.4689C>T (p.Phe1563=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.71806270G>A | CA377162492 | CDH23 | c.8167G>A (p.Val2723Met) c.2100G>A (n.2100G>A) c.1764G>A (n.1764G>A) c.8182G>A (p.Val2728Met) c.1447G>A (p.Val483Met) n.1703G>A c.8362G>A (p.Val2788Met) c.8296G>A (p.Val2766Met) c.8359G>A (p.Val2787Met) c.8356G>A (p.Val2786Met) c.8302G>A (p.Val2768Met) c.8272G>A (p.Val2758Met) c.8227G>A (p.Val2743Met) c.7822G>A (p.Val2608Met) c.7180G>A (p.Val2394Met) c.4690G>A (p.Val1564Met) | gnomAD v4 |
10 | g.71806270G>C | CA137590 | CDH23 | c.8167G>C (p.Val2723Leu) c.2100G>C (n.2100G>C) c.1764G>C (n.1764G>C) c.8182G>C (p.Val2728Leu) c.1447G>C (p.Val483Leu) n.1703G>C c.8362G>C (p.Val2788Leu) c.8296G>C (p.Val2766Leu) c.8359G>C (p.Val2787Leu) c.8356G>C (p.Val2786Leu) c.8302G>C (p.Val2768Leu) c.8272G>C (p.Val2758Leu) c.8227G>C (p.Val2743Leu) c.7822G>C (p.Val2608Leu) c.7180G>C (p.Val2394Leu) c.4690G>C (p.Val1564Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71806270G= | CA1918885082 | CDH23 | c.8167G= (p.Val2723=) c.2100G= (n.2100G=) c.1764G= (n.1764G=) c.8182G= (p.Val2728=) c.1447G= (p.Val483=) n.1703G= c.8362G= (p.Val2788=) c.8296G= (p.Val2766=) c.8359G= (p.Val2787=) c.8356G= (p.Val2786=) c.8302G= (p.Val2768=) c.8272G= (p.Val2758=) c.8227G= (p.Val2743=) c.7822G= (p.Val2608=) c.7180G= (p.Val2394=) c.4690G= (p.Val1564=) | |
10 | g.71806270G>T | CA377162493 | CDH23 | c.8167G>T (p.Val2723Leu) c.2100G>T (n.2100G>T) c.1764G>T (n.1764G>T) c.8182G>T (p.Val2728Leu) c.1447G>T (p.Val483Leu) n.1703G>T c.8362G>T (p.Val2788Leu) c.8296G>T (p.Val2766Leu) c.8359G>T (p.Val2787Leu) c.8356G>T (p.Val2786Leu) c.8302G>T (p.Val2768Leu) c.8272G>T (p.Val2758Leu) c.8227G>T (p.Val2743Leu) c.7822G>T (p.Val2608Leu) c.7180G>T (p.Val2394Leu) c.4690G>T (p.Val1564Leu) | gnomAD v4 |
10 | g.71806271T>A | CA377162494 | CDH23 | c.8168T>A (p.Val2723Glu) c.2101T>A (n.2101T>A) c.1765T>A (n.1765T>A) c.8183T>A (p.Val2728Glu) c.1448T>A (p.Val483Glu) n.1704T>A c.8363T>A (p.Val2788Glu) c.8297T>A (p.Val2766Glu) c.8360T>A (p.Val2787Glu) c.8357T>A (p.Val2786Glu) c.8303T>A (p.Val2768Glu) c.8273T>A (p.Val2758Glu) c.8228T>A (p.Val2743Glu) c.7823T>A (p.Val2608Glu) c.7181T>A (p.Val2394Glu) c.4691T>A (p.Val1564Glu) | |
10 | g.71806271T>C | CA377162495 | CDH23 | c.8168T>C (p.Val2723Ala) c.2101T>C (n.2101T>C) c.1765T>C (n.1765T>C) c.8183T>C (p.Val2728Ala) c.1448T>C (p.Val483Ala) n.1704T>C c.8363T>C (p.Val2788Ala) c.8297T>C (p.Val2766Ala) c.8360T>C (p.Val2787Ala) c.8357T>C (p.Val2786Ala) c.8303T>C (p.Val2768Ala) c.8273T>C (p.Val2758Ala) c.8228T>C (p.Val2743Ala) c.7823T>C (p.Val2608Ala) c.7181T>C (p.Val2394Ala) c.4691T>C (p.Val1564Ala) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71806271T>G | CA377162496 | CDH23 | c.8168T>G (p.Val2723Gly) c.2101T>G (n.2101T>G) c.1765T>G (n.1765T>G) c.8183T>G (p.Val2728Gly) c.1448T>G (p.Val483Gly) n.1704T>G c.8363T>G (p.Val2788Gly) c.8297T>G (p.Val2766Gly) c.8360T>G (p.Val2787Gly) c.8357T>G (p.Val2786Gly) c.8303T>G (p.Val2768Gly) c.8273T>G (p.Val2758Gly) c.8228T>G (p.Val2743Gly) c.7823T>G (p.Val2608Gly) c.7181T>G (p.Val2394Gly) c.4691T>G (p.Val1564Gly) | |
10 | g.71806271T= | CA1918885085 | CDH23 | c.8168T= (p.Val2723=) c.2101T= (n.2101T=) c.1765T= (n.1765T=) c.8183T= (p.Val2728=) c.1448T= (p.Val483=) n.1704T= c.8363T= (p.Val2788=) c.8297T= (p.Val2766=) c.8360T= (p.Val2787=) c.8357T= (p.Val2786=) c.8303T= (p.Val2768=) c.8273T= (p.Val2758=) c.8228T= (p.Val2743=) c.7823T= (p.Val2608=) c.7181T= (p.Val2394=) c.4691T= (p.Val1564=) | |
10 | g.71806272G>A | CA470063472 | CDH23 | c.8169G>A (p.Val2723=) c.2102G>A (n.2102G>A) c.1766G>A (n.1766G>A) c.8184G>A (p.Val2728=) c.1449G>A (p.Val483=) n.1705G>A c.8364G>A (p.Val2788=) c.8298G>A (p.Val2766=) c.8361G>A (p.Val2787=) c.8358G>A (p.Val2786=) c.8304G>A (p.Val2768=) c.8274G>A (p.Val2758=) c.8229G>A (p.Val2743=) c.7824G>A (p.Val2608=) c.7182G>A (p.Val2394=) c.4692G>A (p.Val1564=) | ClinVar dbSNP gnomAD v4 |
10 | g.71806272G>C | CA470063474 | CDH23 | c.8169G>C (p.Val2723=) c.2102G>C (n.2102G>C) c.1766G>C (n.1766G>C) c.8184G>C (p.Val2728=) c.1449G>C (p.Val483=) n.1705G>C c.8364G>C (p.Val2788=) c.8298G>C (p.Val2766=) c.8361G>C (p.Val2787=) c.8358G>C (p.Val2786=) c.8304G>C (p.Val2768=) c.8274G>C (p.Val2758=) c.8229G>C (p.Val2743=) c.7824G>C (p.Val2608=) c.7182G>C (p.Val2394=) c.4692G>C (p.Val1564=) | gnomAD v4 |
10 | g.71806272G>T | CA470063475 | CDH23 | c.8169G>T (p.Val2723=) c.2102G>T (n.2102G>T) c.1766G>T (n.1766G>T) c.8184G>T (p.Val2728=) c.1449G>T (p.Val483=) n.1705G>T c.8364G>T (p.Val2788=) c.8298G>T (p.Val2766=) c.8361G>T (p.Val2787=) c.8358G>T (p.Val2786=) c.8304G>T (p.Val2768=) c.8274G>T (p.Val2758=) c.8229G>T (p.Val2743=) c.7824G>T (p.Val2608=) c.7182G>T (p.Val2394=) c.4692G>T (p.Val1564=) | gnomAD v4 |
10 | g.71806273A>C | CA470063477 | CDH23 | c.8170A>C (p.Arg2724=) c.2103A>C (n.2103A>C) c.1767A>C (n.1767A>C) c.8185A>C (p.Arg2729=) c.1450A>C (p.Arg484=) n.1706A>C c.8365A>C (p.Arg2789=) c.8299A>C (p.Arg2767=) c.8362A>C (p.Arg2788=) c.8359A>C (p.Arg2787=) c.8305A>C (p.Arg2769=) c.8275A>C (p.Arg2759=) c.8230A>C (p.Arg2744=) c.7825A>C (p.Arg2609=) c.7183A>C (p.Arg2395=) c.4693A>C (p.Arg1565=) | |
10 | g.71806273A>G | CA377162498 | CDH23 | c.8170A>G (p.Arg2724Gly) c.2103A>G (n.2103A>G) c.1767A>G (n.1767A>G) c.8185A>G (p.Arg2729Gly) c.1450A>G (p.Arg484Gly) n.1706A>G c.8365A>G (p.Arg2789Gly) c.8299A>G (p.Arg2767Gly) c.8362A>G (p.Arg2788Gly) c.8359A>G (p.Arg2787Gly) c.8305A>G (p.Arg2769Gly) c.8275A>G (p.Arg2759Gly) c.8230A>G (p.Arg2744Gly) c.7825A>G (p.Arg2609Gly) c.7183A>G (p.Arg2395Gly) c.4693A>G (p.Arg1565Gly) | |
10 | g.71806273A>T | CA377162497 | CDH23 | c.8170A>T (p.Arg2724Trp) c.2103A>T (n.2103A>T) c.1767A>T (n.1767A>T) c.8185A>T (p.Arg2729Trp) c.1450A>T (p.Arg484Trp) n.1706A>T c.8365A>T (p.Arg2789Trp) c.8299A>T (p.Arg2767Trp) c.8362A>T (p.Arg2788Trp) c.8359A>T (p.Arg2787Trp) c.8305A>T (p.Arg2769Trp) c.8275A>T (p.Arg2759Trp) c.8230A>T (p.Arg2744Trp) c.7825A>T (p.Arg2609Trp) c.7183A>T (p.Arg2395Trp) c.4693A>T (p.Arg1565Trp) | |
10 | g.71806274G>A | CA377162499 | CDH23 | c.8171G>A (p.Arg2724Lys) c.2104G>A (n.2104G>A) c.1768G>A (n.1768G>A) c.8186G>A (p.Arg2729Lys) c.1451G>A (p.Arg484Lys) n.1707G>A c.8366G>A (p.Arg2789Lys) c.8300G>A (p.Arg2767Lys) c.8363G>A (p.Arg2788Lys) c.8360G>A (p.Arg2787Lys) c.8306G>A (p.Arg2769Lys) c.8276G>A (p.Arg2759Lys) c.8231G>A (p.Arg2744Lys) c.7826G>A (p.Arg2609Lys) c.7184G>A (p.Arg2395Lys) c.4694G>A (p.Arg1565Lys) | |
10 | g.71806274G>C | CA377162501 | CDH23 | c.8171G>C (p.Arg2724Thr) c.2104G>C (n.2104G>C) c.1768G>C (n.1768G>C) c.8186G>C (p.Arg2729Thr) c.1451G>C (p.Arg484Thr) n.1707G>C c.8366G>C (p.Arg2789Thr) c.8300G>C (p.Arg2767Thr) c.8363G>C (p.Arg2788Thr) c.8360G>C (p.Arg2787Thr) c.8306G>C (p.Arg2769Thr) c.8276G>C (p.Arg2759Thr) c.8231G>C (p.Arg2744Thr) c.7826G>C (p.Arg2609Thr) c.7184G>C (p.Arg2395Thr) c.4694G>C (p.Arg1565Thr) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806274G= | CA1918885089 | CDH23 | c.8171G= (p.Arg2724=) c.2104G= (n.2104G=) c.1768G= (n.1768G=) c.8186G= (p.Arg2729=) c.1451G= (p.Arg484=) n.1707G= c.8366G= (p.Arg2789=) c.8300G= (p.Arg2767=) c.8363G= (p.Arg2788=) c.8360G= (p.Arg2787=) c.8306G= (p.Arg2769=) c.8276G= (p.Arg2759=) c.8231G= (p.Arg2744=) c.7826G= (p.Arg2609=) c.7184G= (p.Arg2395=) c.4694G= (p.Arg1565=) | |
10 | g.71806274G>T | CA377162500 | CDH23 | c.8171G>T (p.Arg2724Met) c.2104G>T (n.2104G>T) c.1768G>T (n.1768G>T) c.8186G>T (p.Arg2729Met) c.1451G>T (p.Arg484Met) n.1707G>T c.8366G>T (p.Arg2789Met) c.8300G>T (p.Arg2767Met) c.8363G>T (p.Arg2788Met) c.8360G>T (p.Arg2787Met) c.8306G>T (p.Arg2769Met) c.8276G>T (p.Arg2759Met) c.8231G>T (p.Arg2744Met) c.7826G>T (p.Arg2609Met) c.7184G>T (p.Arg2395Met) c.4694G>T (p.Arg1565Met) | gnomAD v4 |
10 | g.71806275G>A | CA470063481 | CDH23 | c.8172G>A (p.Arg2724=) c.2105G>A (n.2105G>A) c.1769G>A (n.1769G>A) c.8187G>A (p.Arg2729=) c.1452G>A (p.Arg484=) n.1708G>A c.8367G>A (p.Arg2789=) c.8301G>A (p.Arg2767=) c.8364G>A (p.Arg2788=) c.8361G>A (p.Arg2787=) c.8307G>A (p.Arg2769=) c.8277G>A (p.Arg2759=) c.8232G>A (p.Arg2744=) c.7827G>A (p.Arg2609=) c.7185G>A (p.Arg2395=) c.4695G>A (p.Arg1565=) | ClinVar dbSNP gnomAD v4 |
10 | g.71806275G>C | CA377162502 | CDH23 | c.8172G>C (p.Arg2724Ser) c.2105G>C (n.2105G>C) c.1769G>C (n.1769G>C) c.8187G>C (p.Arg2729Ser) c.1452G>C (p.Arg484Ser) n.1708G>C c.8367G>C (p.Arg2789Ser) c.8301G>C (p.Arg2767Ser) c.8364G>C (p.Arg2788Ser) c.8361G>C (p.Arg2787Ser) c.8307G>C (p.Arg2769Ser) c.8277G>C (p.Arg2759Ser) c.8232G>C (p.Arg2744Ser) c.7827G>C (p.Arg2609Ser) c.7185G>C (p.Arg2395Ser) c.4695G>C (p.Arg1565Ser) | dbSNP |
10 | g.71806275G= | CA1918885092 | CDH23 | c.8172G= (p.Arg2724=) c.2105G= (n.2105G=) c.1769G= (n.1769G=) c.8187G= (p.Arg2729=) c.1452G= (p.Arg484=) n.1708G= c.8367G= (p.Arg2789=) c.8301G= (p.Arg2767=) c.8364G= (p.Arg2788=) c.8361G= (p.Arg2787=) c.8307G= (p.Arg2769=) c.8277G= (p.Arg2759=) c.8232G= (p.Arg2744=) c.7827G= (p.Arg2609=) c.7185G= (p.Arg2395=) c.4695G= (p.Arg1565=) | |
10 | g.71806275G>T | CA377162503 | CDH23 | c.8172G>T (p.Arg2724Ser) c.2105G>T (n.2105G>T) c.1769G>T (n.1769G>T) c.8187G>T (p.Arg2729Ser) c.1452G>T (p.Arg484Ser) n.1708G>T c.8367G>T (p.Arg2789Ser) c.8301G>T (p.Arg2767Ser) c.8364G>T (p.Arg2788Ser) c.8361G>T (p.Arg2787Ser) c.8307G>T (p.Arg2769Ser) c.8277G>T (p.Arg2759Ser) c.8232G>T (p.Arg2744Ser) c.7827G>T (p.Arg2609Ser) c.7185G>T (p.Arg2395Ser) c.4695G>T (p.Arg1565Ser) | gnomAD v4 |
10 | g.71806276C>A | CA377162504 | CDH23 | c.8173C>A (p.Pro2725Thr) c.2106C>A (n.2106C>A) c.1770C>A (n.1770C>A) c.8188C>A (p.Pro2730Thr) c.1453C>A (p.Pro485Thr) n.1709C>A c.8368C>A (p.Pro2790Thr) c.8302C>A (p.Pro2768Thr) c.8365C>A (p.Pro2789Thr) c.8362C>A (p.Pro2788Thr) c.8308C>A (p.Pro2770Thr) c.8278C>A (p.Pro2760Thr) c.8233C>A (p.Pro2745Thr) c.7828C>A (p.Pro2610Thr) c.7186C>A (p.Pro2396Thr) c.4696C>A (p.Pro1566Thr) | gnomAD v4 |
10 | g.71806276C= | CA1918885094 | CDH23 | c.8173C= (p.Pro2725=) c.2106C= (n.2106C=) c.1770C= (n.1770C=) c.8188C= (p.Pro2730=) c.1453C= (p.Pro485=) n.1709C= c.8368C= (p.Pro2790=) c.8302C= (p.Pro2768=) c.8365C= (p.Pro2789=) c.8362C= (p.Pro2788=) c.8308C= (p.Pro2770=) c.8278C= (p.Pro2760=) c.8233C= (p.Pro2745=) c.7828C= (p.Pro2610=) c.7186C= (p.Pro2396=) c.4696C= (p.Pro1566=) | |
10 | g.71806276C>G | CA377162505 | CDH23 | c.8173C>G (p.Pro2725Ala) c.2106C>G (n.2106C>G) c.1770C>G (n.1770C>G) c.8188C>G (p.Pro2730Ala) c.1453C>G (p.Pro485Ala) n.1709C>G c.8368C>G (p.Pro2790Ala) c.8302C>G (p.Pro2768Ala) c.8365C>G (p.Pro2789Ala) c.8362C>G (p.Pro2788Ala) c.8308C>G (p.Pro2770Ala) c.8278C>G (p.Pro2760Ala) c.8233C>G (p.Pro2745Ala) c.7828C>G (p.Pro2610Ala) c.7186C>G (p.Pro2396Ala) c.4696C>G (p.Pro1566Ala) | |
10 | g.71806276C>T | CA377162506 | CDH23 | c.8173C>T (p.Pro2725Ser) c.2106C>T (n.2106C>T) c.1770C>T (n.1770C>T) c.8188C>T (p.Pro2730Ser) c.1453C>T (p.Pro485Ser) n.1709C>T c.8368C>T (p.Pro2790Ser) c.8302C>T (p.Pro2768Ser) c.8365C>T (p.Pro2789Ser) c.8362C>T (p.Pro2788Ser) c.8308C>T (p.Pro2770Ser) c.8278C>T (p.Pro2760Ser) c.8233C>T (p.Pro2745Ser) c.7828C>T (p.Pro2610Ser) c.7186C>T (p.Pro2396Ser) c.4696C>T (p.Pro1566Ser) | dbSNP gnomAD v2 |
10 | g.71806277C>A | CA377162508 | CDH23 | c.8174C>A (p.Pro2725His) c.2107C>A (n.2107C>A) c.1771C>A (n.1771C>A) c.8189C>A (p.Pro2730His) c.1454C>A (p.Pro485His) n.1710C>A c.8369C>A (p.Pro2790His) c.8303C>A (p.Pro2768His) c.8366C>A (p.Pro2789His) c.8363C>A (p.Pro2788His) c.8309C>A (p.Pro2770His) c.8279C>A (p.Pro2760His) c.8234C>A (p.Pro2745His) c.7829C>A (p.Pro2610His) c.7187C>A (p.Pro2396His) c.4697C>A (p.Pro1566His) | gnomAD v4 |
10 | g.71806277C= | CA1918885096 | CDH23 | c.8174C= (p.Pro2725=) c.2107C= (n.2107C=) c.1771C= (n.1771C=) c.8189C= (p.Pro2730=) c.1454C= (p.Pro485=) n.1710C= c.8369C= (p.Pro2790=) c.8303C= (p.Pro2768=) c.8366C= (p.Pro2789=) c.8363C= (p.Pro2788=) c.8309C= (p.Pro2770=) c.8279C= (p.Pro2760=) c.8234C= (p.Pro2745=) c.7829C= (p.Pro2610=) c.7187C= (p.Pro2396=) c.4697C= (p.Pro1566=) | |
10 | g.71806277C>G | CA377162507 | CDH23 | c.8174C>G (p.Pro2725Arg) c.2107C>G (n.2107C>G) c.1771C>G (n.1771C>G) c.8189C>G (p.Pro2730Arg) c.1454C>G (p.Pro485Arg) n.1710C>G c.8369C>G (p.Pro2790Arg) c.8303C>G (p.Pro2768Arg) c.8366C>G (p.Pro2789Arg) c.8363C>G (p.Pro2788Arg) c.8309C>G (p.Pro2770Arg) c.8279C>G (p.Pro2760Arg) c.8234C>G (p.Pro2745Arg) c.7829C>G (p.Pro2610Arg) c.7187C>G (p.Pro2396Arg) c.4697C>G (p.Pro1566Arg) | |
10 | g.71806277C>T | CA5546560 | CDH23 | c.8174C>T (p.Pro2725Leu) c.2107C>T (n.2107C>T) c.1771C>T (n.1771C>T) c.8189C>T (p.Pro2730Leu) c.1454C>T (p.Pro485Leu) n.1710C>T c.8369C>T (p.Pro2790Leu) c.8303C>T (p.Pro2768Leu) c.8366C>T (p.Pro2789Leu) c.8363C>T (p.Pro2788Leu) c.8309C>T (p.Pro2770Leu) c.8279C>T (p.Pro2760Leu) c.8234C>T (p.Pro2745Leu) c.7829C>T (p.Pro2610Leu) c.7187C>T (p.Pro2396Leu) c.4697C>T (p.Pro1566Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71806278T>A | CA470063489 | CDH23 | c.8175T>A (p.Pro2725=) c.2108T>A (n.2108T>A) c.1772T>A (n.1772T>A) c.8190T>A (p.Pro2730=) c.1455T>A (p.Pro485=) n.1711T>A c.8370T>A (p.Pro2790=) c.8304T>A (p.Pro2768=) c.8367T>A (p.Pro2789=) c.8364T>A (p.Pro2788=) c.8310T>A (p.Pro2770=) c.8280T>A (p.Pro2760=) c.8235T>A (p.Pro2745=) c.7830T>A (p.Pro2610=) c.7188T>A (p.Pro2396=) c.4698T>A (p.Pro1566=) | |
10 | g.71806278T>C | CA470063490 | CDH23 | c.8175T>C (p.Pro2725=) c.2108T>C (n.2108T>C) c.1772T>C (n.1772T>C) c.8190T>C (p.Pro2730=) c.1455T>C (p.Pro485=) n.1711T>C c.8370T>C (p.Pro2790=) c.8304T>C (p.Pro2768=) c.8367T>C (p.Pro2789=) c.8364T>C (p.Pro2788=) c.8310T>C (p.Pro2770=) c.8280T>C (p.Pro2760=) c.8235T>C (p.Pro2745=) c.7830T>C (p.Pro2610=) c.7188T>C (p.Pro2396=) c.4698T>C (p.Pro1566=) | gnomAD v4 |
10 | g.71806278T>G | CA470063492 | CDH23 | c.8175T>G (p.Pro2725=) c.2108T>G (n.2108T>G) c.1772T>G (n.1772T>G) c.8190T>G (p.Pro2730=) c.1455T>G (p.Pro485=) n.1711T>G c.8370T>G (p.Pro2790=) c.8304T>G (p.Pro2768=) c.8367T>G (p.Pro2789=) c.8364T>G (p.Pro2788=) c.8310T>G (p.Pro2770=) c.8280T>G (p.Pro2760=) c.8235T>G (p.Pro2745=) c.7830T>G (p.Pro2610=) c.7188T>G (p.Pro2396=) c.4698T>G (p.Pro1566=) | ClinVar dbSNP |
10 | g.71806279C>A | CA377162509 | CDH23 | c.8176C>A (p.Pro2726Thr) c.2109C>A (n.2109C>A) c.1773C>A (n.1773C>A) c.8191C>A (p.Pro2731Thr) c.1456C>A (p.Pro486Thr) n.1712C>A c.8371C>A (p.Pro2791Thr) c.8305C>A (p.Pro2769Thr) c.8368C>A (p.Pro2790Thr) c.8365C>A (p.Pro2789Thr) c.8311C>A (p.Pro2771Thr) c.8281C>A (p.Pro2761Thr) c.8236C>A (p.Pro2746Thr) c.7831C>A (p.Pro2611Thr) c.7189C>A (p.Pro2397Thr) c.4699C>A (p.Pro1567Thr) | gnomAD v4 |
10 | g.71806279C>G | CA377162510 | CDH23 | c.8176C>G (p.Pro2726Ala) c.2109C>G (n.2109C>G) c.1773C>G (n.1773C>G) c.8191C>G (p.Pro2731Ala) c.1456C>G (p.Pro486Ala) n.1712C>G c.8371C>G (p.Pro2791Ala) c.8305C>G (p.Pro2769Ala) c.8368C>G (p.Pro2790Ala) c.8365C>G (p.Pro2789Ala) c.8311C>G (p.Pro2771Ala) c.8281C>G (p.Pro2761Ala) c.8236C>G (p.Pro2746Ala) c.7831C>G (p.Pro2611Ala) c.7189C>G (p.Pro2397Ala) c.4699C>G (p.Pro1567Ala) | |
10 | g.71806279C>T | CA377162511 | CDH23 | c.8176C>T (p.Pro2726Ser) c.2109C>T (n.2109C>T) c.1773C>T (n.1773C>T) c.8191C>T (p.Pro2731Ser) c.1456C>T (p.Pro486Ser) n.1712C>T c.8371C>T (p.Pro2791Ser) c.8305C>T (p.Pro2769Ser) c.8368C>T (p.Pro2790Ser) c.8365C>T (p.Pro2789Ser) c.8311C>T (p.Pro2771Ser) c.8281C>T (p.Pro2761Ser) c.8236C>T (p.Pro2746Ser) c.7831C>T (p.Pro2611Ser) c.7189C>T (p.Pro2397Ser) c.4699C>T (p.Pro1567Ser) | |
10 | g.71806280C>A | CA377162512 | CDH23 | c.8177C>A (p.Pro2726Gln) c.2110C>A (n.2110C>A) c.1774C>A (n.1774C>A) c.8192C>A (p.Pro2731Gln) c.1457C>A (p.Pro486Gln) n.1713C>A c.8372C>A (p.Pro2791Gln) c.8306C>A (p.Pro2769Gln) c.8369C>A (p.Pro2790Gln) c.8366C>A (p.Pro2789Gln) c.8312C>A (p.Pro2771Gln) c.8282C>A (p.Pro2761Gln) c.8237C>A (p.Pro2746Gln) c.7832C>A (p.Pro2611Gln) c.7190C>A (p.Pro2397Gln) c.4700C>A (p.Pro1567Gln) | |
10 | g.71806280C= | CA1918885100 | CDH23 | c.8177C= (p.Pro2726=) c.2110C= (n.2110C=) c.1774C= (n.1774C=) c.8192C= (p.Pro2731=) c.1457C= (p.Pro486=) n.1713C= c.8372C= (p.Pro2791=) c.8306C= (p.Pro2769=) c.8369C= (p.Pro2790=) c.8366C= (p.Pro2789=) c.8312C= (p.Pro2771=) c.8282C= (p.Pro2761=) c.8237C= (p.Pro2746=) c.7832C= (p.Pro2611=) c.7190C= (p.Pro2397=) c.4700C= (p.Pro1567=) | |
10 | g.71806280C>G | CA377162513 | CDH23 | c.8177C>G (p.Pro2726Arg) c.2110C>G (n.2110C>G) c.1774C>G (n.1774C>G) c.8192C>G (p.Pro2731Arg) c.1457C>G (p.Pro486Arg) n.1713C>G c.8372C>G (p.Pro2791Arg) c.8306C>G (p.Pro2769Arg) c.8369C>G (p.Pro2790Arg) c.8366C>G (p.Pro2789Arg) c.8312C>G (p.Pro2771Arg) c.8282C>G (p.Pro2761Arg) c.8237C>G (p.Pro2746Arg) c.7832C>G (p.Pro2611Arg) c.7190C>G (p.Pro2397Arg) c.4700C>G (p.Pro1567Arg) | |
10 | g.71806280C>T | CA5546561 | CDH23 | c.8177C>T (p.Pro2726Leu) c.2110C>T (n.2110C>T) c.1774C>T (n.1774C>T) c.8192C>T (p.Pro2731Leu) c.1457C>T (p.Pro486Leu) n.1713C>T c.8372C>T (p.Pro2791Leu) c.8306C>T (p.Pro2769Leu) c.8369C>T (p.Pro2790Leu) c.8366C>T (p.Pro2789Leu) c.8312C>T (p.Pro2771Leu) c.8282C>T (p.Pro2761Leu) c.8237C>T (p.Pro2746Leu) c.7832C>T (p.Pro2611Leu) c.7190C>T (p.Pro2397Leu) c.4700C>T (p.Pro1567Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71806281A= | CA1918885104 | CDH23 | c.8178A= (p.Pro2726=) c.2111A= (n.2111A=) c.1775A= (n.1775A=) c.8193A= (p.Pro2731=) c.1458A= (p.Pro486=) n.1714A= c.8373A= (p.Pro2791=) c.8307A= (p.Pro2769=) c.8370A= (p.Pro2790=) c.8367A= (p.Pro2789=) c.8313A= (p.Pro2771=) c.8283A= (p.Pro2761=) c.8238A= (p.Pro2746=) c.7833A= (p.Pro2611=) c.7191A= (p.Pro2397=) c.4701A= (p.Pro1567=) | |
10 | g.71806281A>C | CA470063497 | CDH23 | c.8178A>C (p.Pro2726=) c.2111A>C (n.2111A>C) c.1775A>C (n.1775A>C) c.8193A>C (p.Pro2731=) c.1458A>C (p.Pro486=) n.1714A>C c.8373A>C (p.Pro2791=) c.8307A>C (p.Pro2769=) c.8370A>C (p.Pro2790=) c.8367A>C (p.Pro2789=) c.8313A>C (p.Pro2771=) c.8283A>C (p.Pro2761=) c.8238A>C (p.Pro2746=) c.7833A>C (p.Pro2611=) c.7191A>C (p.Pro2397=) c.4701A>C (p.Pro1567=) | |
10 | g.71806281A>G | CA470063499 | CDH23 | c.8178A>G (p.Pro2726=) c.2111A>G (n.2111A>G) c.1775A>G (n.1775A>G) c.8193A>G (p.Pro2731=) c.1458A>G (p.Pro486=) n.1714A>G c.8373A>G (p.Pro2791=) c.8307A>G (p.Pro2769=) c.8370A>G (p.Pro2790=) c.8367A>G (p.Pro2789=) c.8313A>G (p.Pro2771=) c.8283A>G (p.Pro2761=) c.8238A>G (p.Pro2746=) c.7833A>G (p.Pro2611=) c.7191A>G (p.Pro2397=) c.4701A>G (p.Pro1567=) | |
10 | g.71806281A>T | CA470063500 | CDH23 | c.8178A>T (p.Pro2726=) c.2111A>T (n.2111A>T) c.1775A>T (n.1775A>T) c.8193A>T (p.Pro2731=) c.1458A>T (p.Pro486=) n.1714A>T c.8373A>T (p.Pro2791=) c.8307A>T (p.Pro2769=) c.8370A>T (p.Pro2790=) c.8367A>T (p.Pro2789=) c.8313A>T (p.Pro2771=) c.8283A>T (p.Pro2761=) c.8238A>T (p.Pro2746=) c.7833A>T (p.Pro2611=) c.7191A>T (p.Pro2397=) c.4701A>T (p.Pro1567=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806282G>A | CA377162514 | CDH23 | c.8178+1G>A (n.8178+1G>A) c.2111+1G>A (n.2111+1G>A) c.1775+1G>A (n.1775+1G>A) c.8193+1G>A (n.8193+1G>A) c.1458+1G>A (n.1458+1G>A) n.1714+1G>A c.8373+1G>A (n.8373+1G>A) c.8307+1G>A (n.8307+1G>A) c.8370+1G>A (n.8370+1G>A) c.8367+1G>A (n.8367+1G>A) c.8313+1G>A (n.8313+1G>A) c.8283+1G>A (n.8283+1G>A) c.8238+1G>A (n.8238+1G>A) c.7833+1G>A (n.7833+1G>A) c.7191+1G>A (n.7191+1G>A) c.4701+1G>A (n.4701+1G>A) | gnomAD v4 |
10 | g.71806282G>C | CA377162516 | CDH23 | c.8178+1G>C (n.8178+1G>C) c.2111+1G>C (n.2111+1G>C) c.1775+1G>C (n.1775+1G>C) c.8193+1G>C (n.8193+1G>C) c.1458+1G>C (n.1458+1G>C) n.1714+1G>C c.8373+1G>C (n.8373+1G>C) c.8307+1G>C (n.8307+1G>C) c.8370+1G>C (n.8370+1G>C) c.8367+1G>C (n.8367+1G>C) c.8313+1G>C (n.8313+1G>C) c.8283+1G>C (n.8283+1G>C) c.8238+1G>C (n.8238+1G>C) c.7833+1G>C (n.7833+1G>C) c.7191+1G>C (n.7191+1G>C) c.4701+1G>C (n.4701+1G>C) | |
10 | g.71806282G>T | CA377162515 | CDH23 | c.8178+1G>T (n.8178+1G>T) c.2111+1G>T (n.2111+1G>T) c.1775+1G>T (n.1775+1G>T) c.8193+1G>T (n.8193+1G>T) c.1458+1G>T (n.1458+1G>T) n.1714+1G>T c.8373+1G>T (n.8373+1G>T) c.8307+1G>T (n.8307+1G>T) c.8370+1G>T (n.8370+1G>T) c.8367+1G>T (n.8367+1G>T) c.8313+1G>T (n.8313+1G>T) c.8283+1G>T (n.8283+1G>T) c.8238+1G>T (n.8238+1G>T) c.7833+1G>T (n.7833+1G>T) c.7191+1G>T (n.7191+1G>T) c.4701+1G>T (n.4701+1G>T) | gnomAD v4 |
10 | g.71806283T>A | CA377162517 | CDH23 | c.8178+2T>A (n.8178+2T>A) c.2111+2T>A (n.2111+2T>A) c.1775+2T>A (n.1775+2T>A) c.8193+2T>A (n.8193+2T>A) c.1458+2T>A (n.1458+2T>A) n.1714+2T>A c.8373+2T>A (n.8373+2T>A) c.8307+2T>A (n.8307+2T>A) c.8370+2T>A (n.8370+2T>A) c.8367+2T>A (n.8367+2T>A) c.8313+2T>A (n.8313+2T>A) c.8283+2T>A (n.8283+2T>A) c.8238+2T>A (n.8238+2T>A) c.7833+2T>A (n.7833+2T>A) c.7191+2T>A (n.7191+2T>A) c.4701+2T>A (n.4701+2T>A) | |
10 | g.71806283T>C | CA377162518 | CDH23 | c.8178+2T>C (n.8178+2T>C) c.2111+2T>C (n.2111+2T>C) c.1775+2T>C (n.1775+2T>C) c.8193+2T>C (n.8193+2T>C) c.1458+2T>C (n.1458+2T>C) n.1714+2T>C c.8373+2T>C (n.8373+2T>C) c.8307+2T>C (n.8307+2T>C) c.8370+2T>C (n.8370+2T>C) c.8367+2T>C (n.8367+2T>C) c.8313+2T>C (n.8313+2T>C) c.8283+2T>C (n.8283+2T>C) c.8238+2T>C (n.8238+2T>C) c.7833+2T>C (n.7833+2T>C) c.7191+2T>C (n.7191+2T>C) c.4701+2T>C (n.4701+2T>C) | |
10 | g.71806283T>G | CA5546562 | CDH23 | c.8178+2T>G (n.8178+2T>G) c.2111+2T>G (n.2111+2T>G) c.1775+2T>G (n.1775+2T>G) c.8193+2T>G (n.8193+2T>G) c.1458+2T>G (n.1458+2T>G) n.1714+2T>G c.8373+2T>G (n.8373+2T>G) c.8307+2T>G (n.8307+2T>G) c.8370+2T>G (n.8370+2T>G) c.8367+2T>G (n.8367+2T>G) c.8313+2T>G (n.8313+2T>G) c.8283+2T>G (n.8283+2T>G) c.8238+2T>G (n.8238+2T>G) c.7833+2T>G (n.7833+2T>G) c.7191+2T>G (n.7191+2T>G) c.4701+2T>G (n.4701+2T>G) | dbSNP ExAC gnomAD v4 |
10 | g.71806283T= | CA1918885109 | CDH23 | c.8178+2T= (n.8178+2T=) c.2111+2T= (n.2111+2T=) c.1775+2T= (n.1775+2T=) c.8193+2T= (n.8193+2T=) c.1458+2T= (n.1458+2T=) n.1714+2T= c.8373+2T= (n.8373+2T=) c.8307+2T= (n.8307+2T=) c.8370+2T= (n.8370+2T=) c.8367+2T= (n.8367+2T=) c.8313+2T= (n.8313+2T=) c.8283+2T= (n.8283+2T=) c.8238+2T= (n.8238+2T=) c.7833+2T= (n.7833+2T=) c.7191+2T= (n.7191+2T=) c.4701+2T= (n.4701+2T=) | |
10 | g.71806284G>A | CA2609584655 | CDH23 | c.8178+3G>A (n.8178+3G>A) c.2111+3G>A (n.2111+3G>A) c.1775+3G>A (n.1775+3G>A) c.8193+3G>A (n.8193+3G>A) c.1458+3G>A (n.1458+3G>A) n.1714+3G>A c.8373+3G>A (n.8373+3G>A) c.8307+3G>A (n.8307+3G>A) c.8370+3G>A (n.8370+3G>A) c.8367+3G>A (n.8367+3G>A) c.8313+3G>A (n.8313+3G>A) c.8283+3G>A (n.8283+3G>A) c.8238+3G>A (n.8238+3G>A) c.7833+3G>A (n.7833+3G>A) c.7191+3G>A (n.7191+3G>A) c.4701+3G>A (n.4701+3G>A) | gnomAD v4 |
10 | g.71806284G>T | CA2609584657 | CDH23 | c.8178+3G>T (n.8178+3G>T) c.2111+3G>T (n.2111+3G>T) c.1775+3G>T (n.1775+3G>T) c.8193+3G>T (n.8193+3G>T) c.1458+3G>T (n.1458+3G>T) n.1714+3G>T c.8373+3G>T (n.8373+3G>T) c.8307+3G>T (n.8307+3G>T) c.8370+3G>T (n.8370+3G>T) c.8367+3G>T (n.8367+3G>T) c.8313+3G>T (n.8313+3G>T) c.8283+3G>T (n.8283+3G>T) c.8238+3G>T (n.8238+3G>T) c.7833+3G>T (n.7833+3G>T) c.7191+3G>T (n.7191+3G>T) c.4701+3G>T (n.4701+3G>T) | gnomAD v4 |
10 | g.71806286G>A | CA594317661 | CDH23 | c.8178+5G>A (n.8178+5G>A) c.2111+5G>A (n.2111+5G>A) c.1775+5G>A (n.1775+5G>A) c.8193+5G>A (n.8193+5G>A) c.1458+5G>A (n.1458+5G>A) n.1714+5G>A c.8373+5G>A (n.8373+5G>A) c.8307+5G>A (n.8307+5G>A) c.8370+5G>A (n.8370+5G>A) c.8367+5G>A (n.8367+5G>A) c.8313+5G>A (n.8313+5G>A) c.8283+5G>A (n.8283+5G>A) c.8238+5G>A (n.8238+5G>A) c.7833+5G>A (n.7833+5G>A) c.7191+5G>A (n.7191+5G>A) c.4701+5G>A (n.4701+5G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806286G= | CA1918885113 | CDH23 | c.8178+5G= (n.8178+5G=) c.2111+5G= (n.2111+5G=) c.1775+5G= (n.1775+5G=) c.8193+5G= (n.8193+5G=) c.1458+5G= (n.1458+5G=) n.1714+5G= c.8373+5G= (n.8373+5G=) c.8307+5G= (n.8307+5G=) c.8370+5G= (n.8370+5G=) c.8367+5G= (n.8367+5G=) c.8313+5G= (n.8313+5G=) c.8283+5G= (n.8283+5G=) c.8238+5G= (n.8238+5G=) c.7833+5G= (n.7833+5G=) c.7191+5G= (n.7191+5G=) c.4701+5G= (n.4701+5G=) | |
10 | g.71806286G>T | CA2609584660 | CDH23 | c.8178+5G>T (n.8178+5G>T) c.2111+5G>T (n.2111+5G>T) c.1775+5G>T (n.1775+5G>T) c.8193+5G>T (n.8193+5G>T) c.1458+5G>T (n.1458+5G>T) n.1714+5G>T c.8373+5G>T (n.8373+5G>T) c.8307+5G>T (n.8307+5G>T) c.8370+5G>T (n.8370+5G>T) c.8367+5G>T (n.8367+5G>T) c.8313+5G>T (n.8313+5G>T) c.8283+5G>T (n.8283+5G>T) c.8238+5G>T (n.8238+5G>T) c.7833+5G>T (n.7833+5G>T) c.7191+5G>T (n.7191+5G>T) c.4701+5G>T (n.4701+5G>T) | gnomAD v4 |
10 | g.71806287del | CA2574575585 | CDH23 | c.8178+6del (n.8178+6del) c.2111+6del (n.2111+6del) c.1775+6del (n.1775+6del) c.8193+6del (n.8193+6del) c.1458+6del (n.1458+6del) n.1714+6del c.8373+6del (n.8373+6del) c.8307+6del (n.8307+6del) c.8370+6del (n.8370+6del) c.8367+6del (n.8367+6del) c.8313+6del (n.8313+6del) c.8283+6del (n.8283+6del) c.8238+6del (n.8238+6del) c.7833+6del (n.7833+6del) c.7191+6del (n.7191+6del) c.4701+6del (n.4701+6del) | |
10 | g.71806287C>A | CA2520733867 | CDH23 | c.8178+6C>A (n.8178+6C>A) c.2111+6C>A (n.2111+6C>A) c.1775+6C>A (n.1775+6C>A) c.8193+6C>A (n.8193+6C>A) c.1458+6C>A (n.1458+6C>A) n.1714+6C>A c.8373+6C>A (n.8373+6C>A) c.8307+6C>A (n.8307+6C>A) c.8370+6C>A (n.8370+6C>A) c.8367+6C>A (n.8367+6C>A) c.8313+6C>A (n.8313+6C>A) c.8283+6C>A (n.8283+6C>A) c.8238+6C>A (n.8238+6C>A) c.7833+6C>A (n.7833+6C>A) c.7191+6C>A (n.7191+6C>A) c.4701+6C>A (n.4701+6C>A) | gnomAD v4 |
10 | g.71806287C= | CA1918885116 | CDH23 | c.8178+6C= (n.8178+6C=) c.2111+6C= (n.2111+6C=) c.1775+6C= (n.1775+6C=) c.8193+6C= (n.8193+6C=) c.1458+6C= (n.1458+6C=) n.1714+6C= c.8373+6C= (n.8373+6C=) c.8307+6C= (n.8307+6C=) c.8370+6C= (n.8370+6C=) c.8367+6C= (n.8367+6C=) c.8313+6C= (n.8313+6C=) c.8283+6C= (n.8283+6C=) c.8238+6C= (n.8238+6C=) c.7833+6C= (n.7833+6C=) c.7191+6C= (n.7191+6C=) c.4701+6C= (n.4701+6C=) | |
10 | g.71806287C>T | CA594317663 | CDH23 | c.8178+6C>T (n.8178+6C>T) c.2111+6C>T (n.2111+6C>T) c.1775+6C>T (n.1775+6C>T) c.8193+6C>T (n.8193+6C>T) c.1458+6C>T (n.1458+6C>T) n.1714+6C>T c.8373+6C>T (n.8373+6C>T) c.8307+6C>T (n.8307+6C>T) c.8370+6C>T (n.8370+6C>T) c.8367+6C>T (n.8367+6C>T) c.8313+6C>T (n.8313+6C>T) c.8283+6C>T (n.8283+6C>T) c.8238+6C>T (n.8238+6C>T) c.7833+6C>T (n.7833+6C>T) c.7191+6C>T (n.7191+6C>T) c.4701+6C>T (n.4701+6C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71806288T>A | CA2574575588 | CDH23 | c.8178+7T>A (n.8178+7T>A) c.2111+7T>A (n.2111+7T>A) c.1775+7T>A (n.1775+7T>A) c.8193+7T>A (n.8193+7T>A) c.1458+7T>A (n.1458+7T>A) n.1714+7T>A c.8373+7T>A (n.8373+7T>A) c.8307+7T>A (n.8307+7T>A) c.8370+7T>A (n.8370+7T>A) c.8367+7T>A (n.8367+7T>A) c.8313+7T>A (n.8313+7T>A) c.8283+7T>A (n.8283+7T>A) c.8238+7T>A (n.8238+7T>A) c.7833+7T>A (n.7833+7T>A) c.7191+7T>A (n.7191+7T>A) c.4701+7T>A (n.4701+7T>A) | |
10 | g.71806288T>C | CA209474461 | CDH23 | c.8178+7T>C (n.8178+7T>C) c.2111+7T>C (n.2111+7T>C) c.1775+7T>C (n.1775+7T>C) c.8193+7T>C (n.8193+7T>C) c.1458+7T>C (n.1458+7T>C) n.1714+7T>C c.8373+7T>C (n.8373+7T>C) c.8307+7T>C (n.8307+7T>C) c.8370+7T>C (n.8370+7T>C) c.8367+7T>C (n.8367+7T>C) c.8313+7T>C (n.8313+7T>C) c.8283+7T>C (n.8283+7T>C) c.8238+7T>C (n.8238+7T>C) c.7833+7T>C (n.7833+7T>C) c.7191+7T>C (n.7191+7T>C) c.4701+7T>C (n.4701+7T>C) | ClinVar dbSNP |
10 | g.71806288T= | CA1918885118 | CDH23 | c.8178+7T= (n.8178+7T=) c.2111+7T= (n.2111+7T=) c.1775+7T= (n.1775+7T=) c.8193+7T= (n.8193+7T=) c.1458+7T= (n.1458+7T=) n.1714+7T= c.8373+7T= (n.8373+7T=) c.8307+7T= (n.8307+7T=) c.8370+7T= (n.8370+7T=) c.8367+7T= (n.8367+7T=) c.8313+7T= (n.8313+7T=) c.8283+7T= (n.8283+7T=) c.8238+7T= (n.8238+7T=) c.7833+7T= (n.7833+7T=) c.7191+7T= (n.7191+7T=) c.4701+7T= (n.4701+7T=) | |
10 | g.71806289T>C | CA2609584662 | CDH23 | c.8178+8T>C (n.8178+8T>C) c.2111+8T>C (n.2111+8T>C) c.1775+8T>C (n.1775+8T>C) c.8193+8T>C (n.8193+8T>C) c.1458+8T>C (n.1458+8T>C) n.1714+8T>C c.8373+8T>C (n.8373+8T>C) c.8307+8T>C (n.8307+8T>C) c.8370+8T>C (n.8370+8T>C) c.8367+8T>C (n.8367+8T>C) c.8313+8T>C (n.8313+8T>C) c.8283+8T>C (n.8283+8T>C) c.8238+8T>C (n.8238+8T>C) c.7833+8T>C (n.7833+8T>C) c.7191+8T>C (n.7191+8T>C) c.4701+8T>C (n.4701+8T>C) | gnomAD v4 |
10 | g.71806289T>G | CA668119236 | CDH23 | c.8178+8T>G (n.8178+8T>G) c.2111+8T>G (n.2111+8T>G) c.1775+8T>G (n.1775+8T>G) c.8193+8T>G (n.8193+8T>G) c.1458+8T>G (n.1458+8T>G) n.1714+8T>G c.8373+8T>G (n.8373+8T>G) c.8307+8T>G (n.8307+8T>G) c.8370+8T>G (n.8370+8T>G) c.8367+8T>G (n.8367+8T>G) c.8313+8T>G (n.8313+8T>G) c.8283+8T>G (n.8283+8T>G) c.8238+8T>G (n.8238+8T>G) c.7833+8T>G (n.7833+8T>G) c.7191+8T>G (n.7191+8T>G) c.4701+8T>G (n.4701+8T>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71806289T= | CA1918885121 | CDH23 | c.8178+8T= (n.8178+8T=) c.2111+8T= (n.2111+8T=) c.1775+8T= (n.1775+8T=) c.8193+8T= (n.8193+8T=) c.1458+8T= (n.1458+8T=) n.1714+8T= c.8373+8T= (n.8373+8T=) c.8307+8T= (n.8307+8T=) c.8370+8T= (n.8370+8T=) c.8367+8T= (n.8367+8T=) c.8313+8T= (n.8313+8T=) c.8283+8T= (n.8283+8T=) c.8238+8T= (n.8238+8T=) c.7833+8T= (n.7833+8T=) c.7191+8T= (n.7191+8T=) c.4701+8T= (n.4701+8T=) | |
10 | g.71806289_71806292del | CA2529865183 | CDH23 | c.8178+8_8178+11del (n.8178+8_8178+11del) c.2111+8_2111+11del (n.2111+8_2111+11del) c.1775+8_1775+11del (n.1775+8_1775+11del) c.8193+8_8193+11del (n.8193+8_8193+11del) c.1458+8_1458+11del (n.1458+8_1458+11del) n.1714+8_1714+11del c.8373+8_8373+11del (n.8373+8_8373+11del) c.8307+8_8307+11del (n.8307+8_8307+11del) c.8370+8_8370+11del (n.8370+8_8370+11del) c.8367+8_8367+11del (n.8367+8_8367+11del) c.8313+8_8313+11del (n.8313+8_8313+11del) c.8283+8_8283+11del (n.8283+8_8283+11del) c.8238+8_8238+11del (n.8238+8_8238+11del) c.7833+8_7833+11del (n.7833+8_7833+11del) c.7191+8_7191+11del (n.7191+8_7191+11del) c.4701+8_4701+11del (n.4701+8_4701+11del) | |
10 | g.71806290G>A | CA209474463 | CDH23 | c.8178+9G>A (n.8178+9G>A) c.2111+9G>A (n.2111+9G>A) c.1775+9G>A (n.1775+9G>A) c.8193+9G>A (n.8193+9G>A) c.1458+9G>A (n.1458+9G>A) n.1714+9G>A c.8373+9G>A (n.8373+9G>A) c.8307+9G>A (n.8307+9G>A) c.8370+9G>A (n.8370+9G>A) c.8367+9G>A (n.8367+9G>A) c.8313+9G>A (n.8313+9G>A) c.8283+9G>A (n.8283+9G>A) c.8238+9G>A (n.8238+9G>A) c.7833+9G>A (n.7833+9G>A) c.7191+9G>A (n.7191+9G>A) c.4701+9G>A (n.4701+9G>A) | dbSNP gnomAD v4 |
10 | g.71806290G>C | CA2697558467 | CDH23 | c.8178+9G>C (n.8178+9G>C) c.2111+9G>C (n.2111+9G>C) c.1775+9G>C (n.1775+9G>C) c.8193+9G>C (n.8193+9G>C) c.1458+9G>C (n.1458+9G>C) n.1714+9G>C c.8373+9G>C (n.8373+9G>C) c.8307+9G>C (n.8307+9G>C) c.8370+9G>C (n.8370+9G>C) c.8367+9G>C (n.8367+9G>C) c.8313+9G>C (n.8313+9G>C) c.8283+9G>C (n.8283+9G>C) c.8238+9G>C (n.8238+9G>C) c.7833+9G>C (n.7833+9G>C) c.7191+9G>C (n.7191+9G>C) c.4701+9G>C (n.4701+9G>C) | ClinVar |
10 | g.71806290G= | CA1918885123 | CDH23 | c.8178+9G= (n.8178+9G=) c.2111+9G= (n.2111+9G=) c.1775+9G= (n.1775+9G=) c.8193+9G= (n.8193+9G=) c.1458+9G= (n.1458+9G=) n.1714+9G= c.8373+9G= (n.8373+9G=) c.8307+9G= (n.8307+9G=) c.8370+9G= (n.8370+9G=) c.8367+9G= (n.8367+9G=) c.8313+9G= (n.8313+9G=) c.8283+9G= (n.8283+9G=) c.8238+9G= (n.8238+9G=) c.7833+9G= (n.7833+9G=) c.7191+9G= (n.7191+9G=) c.4701+9G= (n.4701+9G=) | |
10 | g.71806290G>T | CA2609584665 | CDH23 | c.8178+9G>T (n.8178+9G>T) c.2111+9G>T (n.2111+9G>T) c.1775+9G>T (n.1775+9G>T) c.8193+9G>T (n.8193+9G>T) c.1458+9G>T (n.1458+9G>T) n.1714+9G>T c.8373+9G>T (n.8373+9G>T) c.8307+9G>T (n.8307+9G>T) c.8370+9G>T (n.8370+9G>T) c.8367+9G>T (n.8367+9G>T) c.8313+9G>T (n.8313+9G>T) c.8283+9G>T (n.8283+9G>T) c.8238+9G>T (n.8238+9G>T) c.7833+9G>T (n.7833+9G>T) c.7191+9G>T (n.7191+9G>T) c.4701+9G>T (n.4701+9G>T) | gnomAD v4 |