| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71806186G>A | CA5546544 | CDH23 | c.8083G>A (p.Asp2695Asn) c.2016G>A (n.2016G>A) c.1680G>A (n.1680G>A) c.8098G>A (p.Asp2700Asn) c.1363G>A (p.Asp455Asn) n.1619G>A c.8278G>A (p.Asp2760Asn) c.8212G>A (p.Asp2738Asn) c.8275G>A (p.Asp2759Asn) c.8272G>A (p.Asp2758Asn) c.8218G>A (p.Asp2740Asn) c.8188G>A (p.Asp2730Asn) c.8143G>A (p.Asp2715Asn) c.7738G>A (p.Asp2580Asn) c.7096G>A (p.Asp2366Asn) c.4606G>A (p.Asp1536Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71806186G>C | CA377162314 | CDH23 | c.8083G>C (p.Asp2695His) c.2016G>C (n.2016G>C) c.1680G>C (n.1680G>C) c.8098G>C (p.Asp2700His) c.1363G>C (p.Asp455His) n.1619G>C c.8278G>C (p.Asp2760His) c.8212G>C (p.Asp2738His) c.8275G>C (p.Asp2759His) c.8272G>C (p.Asp2758His) c.8218G>C (p.Asp2740His) c.8188G>C (p.Asp2730His) c.8143G>C (p.Asp2715His) c.7738G>C (p.Asp2580His) c.7096G>C (p.Asp2366His) c.4606G>C (p.Asp1536His) | |
| 10 | g.71806186G= | CA1918884943 | CDH23 | c.8083G= (p.Asp2695=) c.2016G= (n.2016G=) c.1680G= (n.1680G=) c.8098G= (p.Asp2700=) c.1363G= (p.Asp455=) n.1619G= c.8278G= (p.Asp2760=) c.8212G= (p.Asp2738=) c.8275G= (p.Asp2759=) c.8272G= (p.Asp2758=) c.8218G= (p.Asp2740=) c.8188G= (p.Asp2730=) c.8143G= (p.Asp2715=) c.7738G= (p.Asp2580=) c.7096G= (p.Asp2366=) c.4606G= (p.Asp1536=) | |
| 10 | g.71806186G>T | CA377162315 | CDH23 | c.8083G>T (p.Asp2695Tyr) c.2016G>T (n.2016G>T) c.1680G>T (n.1680G>T) c.8098G>T (p.Asp2700Tyr) c.1363G>T (p.Asp455Tyr) n.1619G>T c.8278G>T (p.Asp2760Tyr) c.8212G>T (p.Asp2738Tyr) c.8275G>T (p.Asp2759Tyr) c.8272G>T (p.Asp2758Tyr) c.8218G>T (p.Asp2740Tyr) c.8188G>T (p.Asp2730Tyr) c.8143G>T (p.Asp2715Tyr) c.7738G>T (p.Asp2580Tyr) c.7096G>T (p.Asp2366Tyr) c.4606G>T (p.Asp1536Tyr) | gnomAD v4 |
| 10 | g.71806187A= | CA1918884945 | CDH23 | c.8084A= (p.Asp2695=) c.2017A= (n.2017A=) c.1681A= (n.1681A=) c.8099A= (p.Asp2700=) c.1364A= (p.Asp455=) n.1620A= c.8279A= (p.Asp2760=) c.8213A= (p.Asp2738=) c.8276A= (p.Asp2759=) c.8273A= (p.Asp2758=) c.8219A= (p.Asp2740=) c.8189A= (p.Asp2730=) c.8144A= (p.Asp2715=) c.7739A= (p.Asp2580=) c.7097A= (p.Asp2366=) c.4607A= (p.Asp1536=) | |
| 10 | g.71806187A>C | CA377162316 | CDH23 | c.8084A>C (p.Asp2695Ala) c.2017A>C (n.2017A>C) c.1681A>C (n.1681A>C) c.8099A>C (p.Asp2700Ala) c.1364A>C (p.Asp455Ala) n.1620A>C c.8279A>C (p.Asp2760Ala) c.8213A>C (p.Asp2738Ala) c.8276A>C (p.Asp2759Ala) c.8273A>C (p.Asp2758Ala) c.8219A>C (p.Asp2740Ala) c.8189A>C (p.Asp2730Ala) c.8144A>C (p.Asp2715Ala) c.7739A>C (p.Asp2580Ala) c.7097A>C (p.Asp2366Ala) c.4607A>C (p.Asp1536Ala) | gnomAD v4 |
| 10 | g.71806187A>G | CA377162318 | CDH23 | c.8084A>G (p.Asp2695Gly) c.2017A>G (n.2017A>G) c.1681A>G (n.1681A>G) c.8099A>G (p.Asp2700Gly) c.1364A>G (p.Asp455Gly) n.1620A>G c.8279A>G (p.Asp2760Gly) c.8213A>G (p.Asp2738Gly) c.8276A>G (p.Asp2759Gly) c.8273A>G (p.Asp2758Gly) c.8219A>G (p.Asp2740Gly) c.8189A>G (p.Asp2730Gly) c.8144A>G (p.Asp2715Gly) c.7739A>G (p.Asp2580Gly) c.7097A>G (p.Asp2366Gly) c.4607A>G (p.Asp1536Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71806187A>T | CA377162317 | CDH23 | c.8084A>T (p.Asp2695Val) c.2017A>T (n.2017A>T) c.1681A>T (n.1681A>T) c.8099A>T (p.Asp2700Val) c.1364A>T (p.Asp455Val) n.1620A>T c.8279A>T (p.Asp2760Val) c.8213A>T (p.Asp2738Val) c.8276A>T (p.Asp2759Val) c.8273A>T (p.Asp2758Val) c.8219A>T (p.Asp2740Val) c.8189A>T (p.Asp2730Val) c.8144A>T (p.Asp2715Val) c.7739A>T (p.Asp2580Val) c.7097A>T (p.Asp2366Val) c.4607A>T (p.Asp1536Val) | dbSNP |
| 10 | g.71806188C>A | CA377162319 | CDH23 | c.8085C>A (p.Asp2695Glu) c.2018C>A (n.2018C>A) c.1682C>A (n.1682C>A) c.8100C>A (p.Asp2700Glu) c.1365C>A (p.Asp455Glu) n.1621C>A c.8280C>A (p.Asp2760Glu) c.8214C>A (p.Asp2738Glu) c.8277C>A (p.Asp2759Glu) c.8274C>A (p.Asp2758Glu) c.8220C>A (p.Asp2740Glu) c.8190C>A (p.Asp2730Glu) c.8145C>A (p.Asp2715Glu) c.7740C>A (p.Asp2580Glu) c.7098C>A (p.Asp2366Glu) c.4608C>A (p.Asp1536Glu) | |
| 10 | g.71806188C>G | CA377162320 | CDH23 | c.8085C>G (p.Asp2695Glu) c.2018C>G (n.2018C>G) c.1682C>G (n.1682C>G) c.8100C>G (p.Asp2700Glu) c.1365C>G (p.Asp455Glu) n.1621C>G c.8280C>G (p.Asp2760Glu) c.8214C>G (p.Asp2738Glu) c.8277C>G (p.Asp2759Glu) c.8274C>G (p.Asp2758Glu) c.8220C>G (p.Asp2740Glu) c.8190C>G (p.Asp2730Glu) c.8145C>G (p.Asp2715Glu) c.7740C>G (p.Asp2580Glu) c.7098C>G (p.Asp2366Glu) c.4608C>G (p.Asp1536Glu) | |
| 10 | g.71806188C>T | CA470282185 | CDH23 | c.8085C>T (p.Asp2695=) c.2018C>T (n.2018C>T) c.1682C>T (n.1682C>T) c.8100C>T (p.Asp2700=) c.1365C>T (p.Asp455=) n.1621C>T c.8280C>T (p.Asp2760=) c.8214C>T (p.Asp2738=) c.8277C>T (p.Asp2759=) c.8274C>T (p.Asp2758=) c.8220C>T (p.Asp2740=) c.8190C>T (p.Asp2730=) c.8145C>T (p.Asp2715=) c.7740C>T (p.Asp2580=) c.7098C>T (p.Asp2366=) c.4608C>T (p.Asp1536=) | |
| 10 | g.71806189C>A | CA377162321 | CDH23 | c.8086C>A (p.Leu2696Met) c.2019C>A (n.2019C>A) c.1683C>A (n.1683C>A) c.8101C>A (p.Leu2701Met) c.1366C>A (p.Leu456Met) n.1622C>A c.8281C>A (p.Leu2761Met) c.8215C>A (p.Leu2739Met) c.8278C>A (p.Leu2760Met) c.8275C>A (p.Leu2759Met) c.8221C>A (p.Leu2741Met) c.8191C>A (p.Leu2731Met) c.8146C>A (p.Leu2716Met) c.7741C>A (p.Leu2581Met) c.7099C>A (p.Leu2367Met) c.4609C>A (p.Leu1537Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71806189C= | CA1918884948 | CDH23 | c.8086C= (p.Leu2696=) c.2019C= (n.2019C=) c.1683C= (n.1683C=) c.8101C= (p.Leu2701=) c.1366C= (p.Leu456=) n.1622C= c.8281C= (p.Leu2761=) c.8215C= (p.Leu2739=) c.8278C= (p.Leu2760=) c.8275C= (p.Leu2759=) c.8221C= (p.Leu2741=) c.8191C= (p.Leu2731=) c.8146C= (p.Leu2716=) c.7741C= (p.Leu2581=) c.7099C= (p.Leu2367=) c.4609C= (p.Leu1537=) | |
| 10 | g.71806189C>G | CA377162322 | CDH23 | c.8086C>G (p.Leu2696Val) c.2019C>G (n.2019C>G) c.1683C>G (n.1683C>G) c.8101C>G (p.Leu2701Val) c.1366C>G (p.Leu456Val) n.1622C>G c.8281C>G (p.Leu2761Val) c.8215C>G (p.Leu2739Val) c.8278C>G (p.Leu2760Val) c.8275C>G (p.Leu2759Val) c.8221C>G (p.Leu2741Val) c.8191C>G (p.Leu2731Val) c.8146C>G (p.Leu2716Val) c.7741C>G (p.Leu2581Val) c.7099C>G (p.Leu2367Val) c.4609C>G (p.Leu1537Val) | gnomAD v4 |
| 10 | g.71806189C>T | CA470282186 | CDH23 | c.8086C>T (p.Leu2696=) c.2019C>T (n.2019C>T) c.1683C>T (n.1683C>T) c.8101C>T (p.Leu2701=) c.1366C>T (p.Leu456=) n.1622C>T c.8281C>T (p.Leu2761=) c.8215C>T (p.Leu2739=) c.8278C>T (p.Leu2760=) c.8275C>T (p.Leu2759=) c.8221C>T (p.Leu2741=) c.8191C>T (p.Leu2731=) c.8146C>T (p.Leu2716=) c.7741C>T (p.Leu2581=) c.7099C>T (p.Leu2367=) c.4609C>T (p.Leu1537=) | gnomAD v4 |
| 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 |