Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.71806189C>ACA377162321CDH23c.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
10g.71806189C=CA1918884948CDH23c.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=)
10g.71806189C>GCA377162322CDH23c.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
10g.71806189C>TCA470282186CDH23c.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
10g.71806190T>ACA377162323CDH23c.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
10g.71806190T>CCA377162324CDH23c.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
10g.71806190T>GCA377162325CDH23c.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
10g.71806191G>ACA5546545CDH23c.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
10g.71806191G>CCA470282189CDH23c.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=)
10g.71806191G=CA1918884952CDH23c.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=)
10g.71806191G>TCA470282190CDH23c.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
10g.71806192G>ACA377162326CDH23c.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
10g.71806192G>CCA377162327CDH23c.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)
10g.71806192G=CA1918884956CDH23c.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=)
10g.71806192G>TCA377162328CDH23c.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
10g.71806193G>ACA377162330CDH23c.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
10g.71806193G>CCA5546546CDH23c.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
10g.71806193G=CA1918884961CDH23c.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=)
10g.71806193G>TCA377162329CDH23c.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
10g.71806193_71806198dupCA2573145279CDH23c.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
10g.71806194C>ACA470282194CDH23c.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
10g.71806194C=CA1918884964CDH23c.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=)
10g.71806194C>GCA470282195CDH23c.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=)
10g.71806194C>TCA470282197CDH23c.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
10g.71806195C>ACA377162331CDH23c.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
10g.71806195C>GCA377162333CDH23c.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)
10g.71806195C>TCA377162332CDH23c.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
10g.71806196A>CCA377162334CDH23c.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)
10g.71806196A>GCA377162336CDH23c.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)
10g.71806196A>TCA377162335CDH23c.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)
10g.71806197G>ACA470282200CDH23c.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
10g.71806197G>CCA377162337CDH23c.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)
10g.71806197G>TCA377162338CDH23c.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
10g.71806198C>ACA377162339CDH23c.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
10g.71806198C=CA1918884967CDH23c.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=)
10g.71806198C>GCA377162340CDH23c.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)
10g.71806198C>TCA209474393CDH23c.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
10g.71806199C>ACA377162341CDH23c.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
10g.71806199C>GCA377162342CDH23c.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
10g.71806199C>TCA377162343CDH23c.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
10g.71806200A>CCA470282203CDH23c.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=)
10g.71806200A>GCA470282205CDH23c.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
10g.71806200A>TCA470282204CDH23c.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
10g.71806201G>ACA377162344CDH23c.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
10g.71806201G>CCA377162345CDH23c.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)
10g.71806201G>TCA377162346CDH23c.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
10g.71806202T>ACA377162347CDH23c.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)
10g.71806202T>CCA377162348CDH23c.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
10g.71806202T>GCA377162349CDH23c.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)
10g.71806202T=CA1918884970CDH23c.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=)
10g.71806203G>ACA470282209CDH23c.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
10g.71806203G>CCA470282211CDH23c.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
10g.71806203G>TCA470282213CDH23c.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
10g.71806204C>ACA377162350CDH23c.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
10g.71806204C=CA1918884975CDH23c.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=)
10g.71806204C>GCA377162352CDH23c.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)
10g.71806204C>TCA377162351CDH23c.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
10g.71806205C>ACA377162353CDH23c.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
10g.71806205C=CA1918884977CDH23c.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=)
10g.71806205C>GCA377162354CDH23c.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)
10g.71806205C>TCA377162355CDH23c.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
10g.71806206A>CCA470282218CDH23c.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=)
10g.71806206A>GCA470282219CDH23c.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
10g.71806206A>TCA470282221CDH23c.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
10g.71806207T>ACA377162356CDH23c.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
10g.71806207T>CCA377162357CDH23c.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
10g.71806207T>GCA377162358CDH23c.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)
10g.71806207T=CA1918884979CDH23c.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=)
10g.71806208A>CCA377162359CDH23c.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)
10g.71806208A>GCA377162360CDH23c.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)
10g.71806208A>TCA377162361CDH23c.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
10g.71806209C>ACA377162363CDH23c.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
10g.71806209C=CA1918884981CDH23c.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=)
10g.71806209C>GCA377162362CDH23c.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
10g.71806209C>TCA209474397CDH23c.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
10g.71806210G>ACA5546548CDH23c.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
10g.71806210G>CCA5546547CDH23c.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
10g.71806210G=CA1918884983CDH23c.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=)
10g.71806210G>TCA377162364CDH23c.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
10g.71806211A>CCA377162365CDH23c.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)
10g.71806211A>GCA377162366CDH23c.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
10g.71806211A>TCA377162367CDH23c.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)
10g.71806212G>ACA470282233CDH23c.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
10g.71806212G>CCA377162368CDH23c.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
10g.71806212G=CA1918884987CDH23c.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=)
10g.71806212G>TCA377162369CDH23c.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
10g.71806213A>CCA377162370CDH23c.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)
10g.71806213A>GCA377162371CDH23c.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
10g.71806213A>TCA377162372CDH23c.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)
10g.71806214C>ACA377162374CDH23c.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
10g.71806214C=CA1918884991CDH23c.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=)
10g.71806214C>GCA5546549CDH23c.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
10g.71806214C>TCA377162373CDH23c.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
10g.71806215T>ACA470282239CDH23c.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
10g.71806215T>CCA470282240CDH23c.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
10g.71806215T>GCA470282241CDH23c.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=)
10g.71806215T=CA1918884995CDH23c.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=)
10g.71806216_71806217delCA2788482871CDH23c.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)
10g.71806216A=CA1918884997CDH23c.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=)
10g.71806216A>CCA5546550CDH23c.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
10g.71806216A>GCA5546551CDH23c.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
10g.71806216A>TCA377162375CDH23c.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
10g.71806217T>ACA377162376CDH23c.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
10g.71806217T>CCA377162377CDH23c.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
10g.71806217T>GCA377162378CDH23c.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)
10g.71806218G>ACA377162379CDH23c.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
10g.71806218G>CCA377162380CDH23c.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)
10g.71806218G>TCA377162381CDH23c.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
10g.71806219C>ACA377162382CDH23c.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
10g.71806219C=CA1918885002CDH23c.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=)
10g.71806219C>GCA377162383CDH23c.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)
10g.71806219C>TCA209474422CDH23c.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
10g.71806220A>CCA377162385CDH23c.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
10g.71806220A>GCA377162386CDH23c.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
10g.71806220A>TCA377162384CDH23c.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
10g.71806221G>ACA470282248CDH23c.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
10g.71806221G>CCA377162388CDH23c.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)
10g.71806221G>TCA377162387CDH23c.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
10g.71806222C>ACA377162389CDH23c.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
10g.71806222C=CA1918885005CDH23c.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=)
10g.71806222C>GCA5546552CDH23c.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
10g.71806222C>TCA209474429CDH23c.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
10g.71806223C>ACA377162390CDH23c.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
10g.71806223C=CA1918885013CDH23c.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=)
10g.71806223C>GCA209474435CDH23c.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
10g.71806223C>TCA5546553CDH23c.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
10g.71806223_71806224delinsCGCA1918885010CDH23c.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=)
10g.71806223_71806224delinsTTCA10576818CDH23c.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
10g.71806224G>ACA5546555CDH23c.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
10g.71806224G>CCA470282252CDH23c.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=)
10g.71806224G=CA1918885017CDH23c.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=)
10g.71806224G>TCA5546554CDH23c.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
10g.71806225C>ACA377162391CDH23c.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
10g.71806225C=CA1918885021CDH23c.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=)
10g.71806225C>GCA377162392CDH23c.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)
10g.71806225C>TCA470282253CDH23c.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
10g.71806226T>ACA377162395CDH23c.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
10g.71806226T>CCA377162393CDH23c.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
10g.71806226T>GCA377162394CDH23c.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)
10g.71806226T=CA1918885024CDH23c.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=)
10g.71806227G>ACA470282254CDH23c.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
10g.71806227G>CCA470282255CDH23c.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=)
10g.71806227G=CA1918885027CDH23c.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=)
10g.71806227G>TCA470282256CDH23c.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
10g.71806228C>ACA377162396CDH23c.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
10g.71806228C>GCA377162397CDH23c.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)
10g.71806228C>TCA377162398CDH23c.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
10g.71806229A=CA1918885028CDH23c.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=)
10g.71806229A>CCA377162399CDH23c.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)
10g.71806229A>GCA377162400CDH23c.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
10g.71806229A>TCA377162401CDH23c.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
10g.71806230G>ACA470282259CDH23c.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
10g.71806230G>CCA377162402CDH23c.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)
10g.71806230G>TCA377162403CDH23c.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
10g.71806231G>ACA377162404CDH23c.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
10g.71806231G>CCA209474441CDH23c.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
10g.71806231G=CA1918885029CDH23c.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=)
10g.71806231G>TCA377162405CDH23c.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
10g.71806232T>ACA377162407CDH23c.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
10g.71806232T>CCA377162408CDH23c.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)
10g.71806232T>GCA377162406CDH23c.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
10g.71806232T=CA1918885031CDH23c.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=)
10g.71806233G>ACA470063380CDH23c.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
10g.71806233G>CCA470063382CDH23c.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=)
10g.71806233G>TCA470063383CDH23c.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
10g.71806234G>ACA377162409CDH23c.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
10g.71806234G>CCA377162410CDH23c.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)
10g.71806234G=CA1918885033CDH23c.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=)
10g.71806234G>TCA377162411CDH23c.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
10g.71806235C>ACA377162412CDH23c.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
10g.71806235C=CA1918885034CDH23c.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=)
10g.71806235C>GCA377162413CDH23c.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
10g.71806235C>TCA377162414CDH23c.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
10g.71806236C>ACA470063389CDH23c.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
10g.71806236C=CA1918885036CDH23c.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=)
10g.71806236C>GCA470063391CDH23c.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
10g.71806236C>TCA470063393CDH23c.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
10g.71806237C>ACA377162416CDH23c.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
10g.71806237C=CA1918885038CDH23c.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=)
10g.71806237C>GCA377162415CDH23c.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)
10g.71806237C>TCA470063395CDH23c.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
10g.71806238T>ACA377162417CDH23c.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
10g.71806238T>CCA377162418CDH23c.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
10g.71806238T>GCA377162419CDH23c.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)
10g.71806239G>ACA470063399CDH23c.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
10g.71806239G>CCA470063400CDH23c.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=)
10g.71806239G>TCA470063402CDH23c.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
10g.71806240delCA2609584484CDH23c.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
10g.71806240G>ACA377162420CDH23c.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)
10g.71806240G>CCA377162421CDH23c.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)
10g.71806240G>TCA377162422CDH23c.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
10g.71806241delCA2609584497CDH23c.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
10g.71806241A>CCA377162423CDH23c.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)
10g.71806241A>GCA377162425CDH23c.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
10g.71806241A>TCA377162424CDH23c.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
10g.71806242G>ACA470063407CDH23c.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
10g.71806242G>CCA377162426CDH23c.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)
10g.71806242G=CA1918885040CDH23c.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=)
10g.71806242G>TCA377162427CDH23c.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
10g.71806243G>ACA377162428CDH23c.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
10g.71806243G>CCA377162429CDH23c.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
10g.71806243G>TCA377162430CDH23c.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
10g.71806244A>CCA377162431CDH23c.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)
10g.71806244A>GCA377162432CDH23c.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
10g.71806244A>TCA377162433CDH23c.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
10g.71806245C>ACA377162434CDH23c.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
10g.71806245C=CA1918885042CDH23c.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=)
10g.71806245C>GCA377162435CDH23c.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)
10g.71806245C>TCA470063414CDH23c.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
10g.71806246A>CCA377162436CDH23c.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)
10g.71806246A>GCA377162437CDH23c.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)
10g.71806246A>TCA377162438CDH23c.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
10g.71806247T>ACA377162440CDH23c.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)
10g.71806247T>CCA377162441CDH23c.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
10g.71806247T>GCA377162439CDH23c.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)
10g.71806247T=CA1918885044CDH23c.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=)
10g.71806248C>ACA470063419CDH23c.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
10g.71806248C=CA1918885047CDH23c.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=)
10g.71806248C>GCA377162442CDH23c.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
10g.71806248C>TCA470063421CDH23c.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
10g.71806248_71806249delinsCGCA1918885048CDH23c.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=)
10g.71806249delCA594317650CDH23c.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
10g.71806249G>ACA5546556CDH23c.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
10g.71806249G>CCA377162444CDH23c.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
10g.71806249G=CA1918885054CDH23c.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=)
10g.71806249G>TCA377162443CDH23c.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
10g.71806250A>CCA377162445CDH23c.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)
10g.71806250A>GCA377162446CDH23c.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)
10g.71806250A>TCA377162447CDH23c.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
10g.71806251T>ACA377162448CDH23c.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)
10g.71806251T>CCA470063426CDH23c.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=)
10g.71806251T>GCA377162449CDH23c.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
10g.71806252G>ACA377162450CDH23c.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
10g.71806252G>CCA377162451CDH23c.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)
10g.71806252G>TCA377162452CDH23c.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
10g.71806253A>CCA377162453CDH23c.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)
10g.71806253A>GCA377162454CDH23c.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
10g.71806253A>TCA377162455CDH23c.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)
10g.71806254C>ACA377162456CDH23c.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
10g.71806254C>GCA377162457CDH23c.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
10g.71806254C>TCA470063431CDH23c.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
10g.71806255A>CCA377162458CDH23c.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)
10g.71806255A>GCA377162460CDH23c.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
10g.71806255A>TCA377162459CDH23c.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
10g.71806256A>CCA377162461CDH23c.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)
10g.71806256A>GCA377162462CDH23c.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
10g.71806256A>TCA377162463CDH23c.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)
10g.71806257C>ACA377162464CDH23c.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
10g.71806257C=CA1918885058CDH23c.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=)
10g.71806257C>GCA377162465CDH23c.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)
10g.71806257C>TCA470063437CDH23c.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
10g.71806258G>ACA5546557CDH23c.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
10g.71806258G>CCA377162466CDH23c.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)
10g.71806258G=CA1918885063CDH23c.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=)
10g.71806258G>TCA377162467CDH23c.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
10g.71806259A>CCA377162468CDH23c.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
10g.71806259A>GCA377162469CDH23c.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)
10g.71806259A>TCA377162470CDH23c.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
10g.71806260A>CCA377162471CDH23c.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)
10g.71806260A>GCA470063442CDH23c.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
10g.71806260A>TCA377162472CDH23c.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)
10g.71806260_71806261delinsACCA1918885066CDH23c.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=)
10g.71806261C>ACA209474447CDH23c.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
10g.71806261C=CA1918885069CDH23c.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=)
10g.71806261C>GCA377162473CDH23c.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)
10g.71806261C>TCA377162474CDH23c.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
10g.71806264delCA5546558CDH23c.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
10g.71806262C>ACA377162475CDH23c.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
10g.71806262C=CA1918885073CDH23c.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=)
10g.71806262C>GCA377162476CDH23c.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)
10g.71806262C>TCA377162477CDH23c.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)
10g.71806263C>ACA470063450CDH23c.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=)
10g.71806263C=CA1918885075CDH23c.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=)
10g.71806263C>GCA470063453CDH23c.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
10g.71806263C>TCA470063452CDH23c.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
10g.71806264C>ACA377162478CDH23c.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)
10g.71806264C>GCA377162479CDH23c.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)
10g.71806264C>TCA377162480CDH23c.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)
10g.71806265T>ACA377162481CDH23c.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)
10g.71806265T>CCA377162482CDH23c.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
10g.71806265T>GCA377162483CDH23c.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)
10g.71806268delCA2609584546CDH23c.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
10g.71806266T>ACA470063460CDH23c.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=)
10g.71806266T>CCA470063461CDH23c.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
10g.71806266T>GCA470063463CDH23c.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=)
10g.71806267T>ACA377162486CDH23c.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)
10g.71806267T>CCA377162484CDH23c.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)
10g.71806267T>GCA377162485CDH23c.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)
10g.71806268T>ACA377162487CDH23c.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)
10g.71806268T>CCA377162488CDH23c.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
10g.71806268T>GCA377162489CDH23c.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)
10g.71806269C>ACA377162490CDH23c.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
10g.71806269C=CA1918885078CDH23c.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=)
10g.71806269C>GCA377162491CDH23c.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)
10g.71806269C>TCA5546559CDH23c.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
10g.71806270G>ACA377162492CDH23c.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
10g.71806270G>CCA137590CDH23c.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
10g.71806270G=CA1918885082CDH23c.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=)
10g.71806270G>TCA377162493CDH23c.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
10g.71806271T>ACA377162494CDH23c.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)
10g.71806271T>CCA377162495CDH23c.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
10g.71806271T>GCA377162496CDH23c.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)
10g.71806271T=CA1918885085CDH23c.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=)
10g.71806272G>ACA470063472CDH23c.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
10g.71806272G>CCA470063474CDH23c.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
10g.71806272G>TCA470063475CDH23c.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
10g.71806273A>CCA470063477CDH23c.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=)
10g.71806273A>GCA377162498CDH23c.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)
10g.71806273A>TCA377162497CDH23c.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)
10g.71806274G>ACA377162499CDH23c.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)
10g.71806274G>CCA377162501CDH23c.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
10g.71806274G=CA1918885089CDH23c.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=)
10g.71806274G>TCA377162500CDH23c.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
10g.71806275G>ACA470063481CDH23c.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
10g.71806275G>CCA377162502CDH23c.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
10g.71806275G=CA1918885092CDH23c.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=)
10g.71806275G>TCA377162503CDH23c.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
10g.71806276C>ACA377162504CDH23c.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
10g.71806276C=CA1918885094CDH23c.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=)
10g.71806276C>GCA377162505CDH23c.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)
10g.71806276C>TCA377162506CDH23c.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
10g.71806277C>ACA377162508CDH23c.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
10g.71806277C=CA1918885096CDH23c.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=)
10g.71806277C>GCA377162507CDH23c.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)
10g.71806277C>TCA5546560CDH23c.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
10g.71806278T>ACA470063489CDH23c.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=)
10g.71806278T>CCA470063490CDH23c.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
10g.71806278T>GCA470063492CDH23c.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
10g.71806279C>ACA377162509CDH23c.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
10g.71806279C>GCA377162510CDH23c.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)
10g.71806279C>TCA377162511CDH23c.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)
10g.71806280C>ACA377162512CDH23c.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)
10g.71806280C=CA1918885100CDH23c.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=)
10g.71806280C>GCA377162513CDH23c.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)
10g.71806280C>TCA5546561CDH23c.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
10g.71806281A=CA1918885104CDH23c.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=)
10g.71806281A>CCA470063497CDH23c.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=)
10g.71806281A>GCA470063499CDH23c.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=)
10g.71806281A>TCA470063500CDH23c.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
10g.71806282G>ACA377162514CDH23c.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
10g.71806282G>CCA377162516CDH23c.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)
10g.71806282G>TCA377162515CDH23c.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
10g.71806283T>ACA377162517CDH23c.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)
10g.71806283T>CCA377162518CDH23c.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)
10g.71806283T>GCA5546562CDH23c.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
10g.71806283T=CA1918885109CDH23c.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=)
10g.71806284G>ACA2609584655CDH23c.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
10g.71806284G>TCA2609584657CDH23c.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
10g.71806286G>ACA594317661CDH23c.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
10g.71806286G=CA1918885113CDH23c.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=)
10g.71806286G>TCA2609584660CDH23c.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
10g.71806287delCA2574575585CDH23c.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)
10g.71806287C>ACA2520733867CDH23c.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
10g.71806287C=CA1918885116CDH23c.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=)
10g.71806287C>TCA594317663CDH23c.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
10g.71806288T>ACA2574575588CDH23c.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)
10g.71806288T>CCA209474461CDH23c.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
10g.71806288T=CA1918885118CDH23c.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=)
10g.71806289T>CCA2609584662CDH23c.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
10g.71806289T>GCA668119236CDH23c.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
10g.71806289T=CA1918885121CDH23c.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=)
10g.71806289_71806292delCA2529865183CDH23c.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)

Number of alleles fetched