UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.54132993G>A | CA376515303 | PCDH15 | c.1835C>T (p.Thr612Ile) c.1799C>T (p.Thr600Ile) c.1820C>T (p.Thr607Ile) c.658C>T c.1814C>T (p.Thr605Ile) c.1688C>T (p.Thr563Ile) c.1733C>T (p.Thr578Ile) c.1305+62690C>T (n.1305+62690C>T) c.1098+80943C>T (n.1098+80943C>T) c.632C>T (p.Thr211Ile) c.876+184278C>T (n.876+184278C>T) c.1784+20107C>T (n.1784+20107C>T) c.-24-275730C>T (n.-24-275730C>T) n.2812C>T | |
| 10 | g.54132993G>C | CA376515304 | PCDH15 | c.1835C>G (p.Thr612Ser) c.1799C>G (p.Thr600Ser) c.1820C>G (p.Thr607Ser) c.658C>G c.1814C>G (p.Thr605Ser) c.1688C>G (p.Thr563Ser) c.1733C>G (p.Thr578Ser) c.1305+62690C>G (n.1305+62690C>G) c.1098+80943C>G (n.1098+80943C>G) c.632C>G (p.Thr211Ser) c.876+184278C>G (n.876+184278C>G) c.1784+20107C>G (n.1784+20107C>G) c.-24-275730C>G (n.-24-275730C>G) n.2812C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.54132993G= | CA1910947615 | PCDH15 | c.1835C= (p.Thr612=) c.1799C= (p.Thr600=) c.1820C= (p.Thr607=) c.658C= c.1814C= (p.Thr605=) c.1688C= (p.Thr563=) c.1733C= (p.Thr578=) c.1305+62690C= (n.1305+62690C=) c.1098+80943C= (n.1098+80943C=) c.632C= (p.Thr211=) c.876+184278C= (n.876+184278C=) c.1784+20107C= (n.1784+20107C=) c.-24-275730C= (n.-24-275730C=) n.2812C= | |
| 10 | g.54132993G>T | CA376515305 | PCDH15 | c.1835C>A (p.Thr612Asn) c.1799C>A (p.Thr600Asn) c.1820C>A (p.Thr607Asn) c.658C>A c.1814C>A (p.Thr605Asn) c.1688C>A (p.Thr563Asn) c.1733C>A (p.Thr578Asn) c.1305+62690C>A (n.1305+62690C>A) c.1098+80943C>A (n.1098+80943C>A) c.632C>A (p.Thr211Asn) c.876+184278C>A (n.876+184278C>A) c.1784+20107C>A (n.1784+20107C>A) c.-24-275730C>A (n.-24-275730C>A) n.2812C>A | |
| 10 | g.54132994T>A | CA376515310 | PCDH15 | c.1834A>T (p.Thr612Ser) c.1798A>T (p.Thr600Ser) c.1819A>T (p.Thr607Ser) c.657A>T c.1813A>T (p.Thr605Ser) c.1687A>T (p.Thr563Ser) c.1732A>T (p.Thr578Ser) c.1305+62689A>T (n.1305+62689A>T) c.1098+80942A>T (n.1098+80942A>T) c.631A>T (p.Thr211Ser) c.876+184277A>T (n.876+184277A>T) c.1784+20106A>T (n.1784+20106A>T) c.-24-275731A>T (n.-24-275731A>T) n.2811A>T | |
| 10 | g.54132994T>C | CA376515307 | PCDH15 | c.1834A>G (p.Thr612Ala) c.1798A>G (p.Thr600Ala) c.1819A>G (p.Thr607Ala) c.657A>G c.1813A>G (p.Thr605Ala) c.1687A>G (p.Thr563Ala) c.1732A>G (p.Thr578Ala) c.1305+62689A>G (n.1305+62689A>G) c.1098+80942A>G (n.1098+80942A>G) c.631A>G (p.Thr211Ala) c.876+184277A>G (n.876+184277A>G) c.1784+20106A>G (n.1784+20106A>G) c.-24-275731A>G (n.-24-275731A>G) n.2811A>G | gnomAD v4 |
| 10 | g.54132994T>G | CA376515306 | PCDH15 | c.1834A>C (p.Thr612Pro) c.1798A>C (p.Thr600Pro) c.1819A>C (p.Thr607Pro) c.657A>C c.1813A>C (p.Thr605Pro) c.1687A>C (p.Thr563Pro) c.1732A>C (p.Thr578Pro) c.1305+62689A>C (n.1305+62689A>C) c.1098+80942A>C (n.1098+80942A>C) c.631A>C (p.Thr211Pro) c.876+184277A>C (n.876+184277A>C) c.1784+20106A>C (n.1784+20106A>C) c.-24-275731A>C (n.-24-275731A>C) n.2811A>C | |
| 10 | g.54132995G>A | CA207196676 | PCDH15 | c.1833C>T (p.Cys611=) c.1797C>T (p.Cys599=) c.1818C>T (p.Cys606=) c.656C>T c.1812C>T (p.Cys604=) c.1686C>T (p.Cys562=) c.1731C>T (p.Cys577=) c.1305+62688C>T (n.1305+62688C>T) c.1098+80941C>T (n.1098+80941C>T) c.630C>T (p.Cys210=) c.876+184276C>T (n.876+184276C>T) c.1784+20105C>T (n.1784+20105C>T) c.-24-275732C>T (n.-24-275732C>T) n.2810C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.54132995G>C | CA376515313 | PCDH15 | c.1833C>G (p.Cys611Trp) c.1797C>G (p.Cys599Trp) c.1818C>G (p.Cys606Trp) c.656C>G c.1812C>G (p.Cys604Trp) c.1686C>G (p.Cys562Trp) c.1731C>G (p.Cys577Trp) c.1305+62688C>G (n.1305+62688C>G) c.1098+80941C>G (n.1098+80941C>G) c.630C>G (p.Cys210Trp) c.876+184276C>G (n.876+184276C>G) c.1784+20105C>G (n.1784+20105C>G) c.-24-275732C>G (n.-24-275732C>G) n.2810C>G | |
| 10 | g.54132995G= | CA1910947618 | PCDH15 | c.1833C= (p.Cys611=) c.1797C= (p.Cys599=) c.1818C= (p.Cys606=) c.656C= c.1812C= (p.Cys604=) c.1686C= (p.Cys562=) c.1731C= (p.Cys577=) c.1305+62688C= (n.1305+62688C=) c.1098+80941C= (n.1098+80941C=) c.630C= (p.Cys210=) c.876+184276C= (n.876+184276C=) c.1784+20105C= (n.1784+20105C=) c.-24-275732C= (n.-24-275732C=) n.2810C= | |
| 10 | g.54132995G>T | CA376515315 | PCDH15 | c.1833C>A (p.Cys611Ter) c.1797C>A (p.Cys599Ter) c.1818C>A (p.Cys606Ter) c.656C>A c.1812C>A (p.Cys604Ter) c.1686C>A (p.Cys562Ter) c.1731C>A (p.Cys577Ter) c.1305+62688C>A (n.1305+62688C>A) c.1098+80941C>A (n.1098+80941C>A) c.630C>A (p.Cys210Ter) c.876+184276C>A (n.876+184276C>A) c.1784+20105C>A (n.1784+20105C>A) c.-24-275732C>A (n.-24-275732C>A) n.2810C>A | ClinVar |
| 10 | g.54132996C>A | CA376515316 | PCDH15 | c.1832G>T (p.Cys611Phe) c.1796G>T (p.Cys599Phe) c.1817G>T (p.Cys606Phe) c.655G>T c.1811G>T (p.Cys604Phe) c.1685G>T (p.Cys562Phe) c.1730G>T (p.Cys577Phe) c.1305+62687G>T (n.1305+62687G>T) c.1098+80940G>T (n.1098+80940G>T) c.629G>T (p.Cys210Phe) c.876+184275G>T (n.876+184275G>T) c.1784+20104G>T (n.1784+20104G>T) c.-24-275733G>T (n.-24-275733G>T) n.2809G>T | gnomAD v4 |
| 10 | g.54132996C>G | CA376515317 | PCDH15 | c.1832G>C (p.Cys611Ser) c.1796G>C (p.Cys599Ser) c.1817G>C (p.Cys606Ser) c.655G>C c.1811G>C (p.Cys604Ser) c.1685G>C (p.Cys562Ser) c.1730G>C (p.Cys577Ser) c.1305+62687G>C (n.1305+62687G>C) c.1098+80940G>C (n.1098+80940G>C) c.629G>C (p.Cys210Ser) c.876+184275G>C (n.876+184275G>C) c.1784+20104G>C (n.1784+20104G>C) c.-24-275733G>C (n.-24-275733G>C) n.2809G>C | |
| 10 | g.54132996C>T | CA376515319 | PCDH15 | c.1832G>A (p.Cys611Tyr) c.1796G>A (p.Cys599Tyr) c.1817G>A (p.Cys606Tyr) c.655G>A c.1811G>A (p.Cys604Tyr) c.1685G>A (p.Cys562Tyr) c.1730G>A (p.Cys577Tyr) c.1305+62687G>A (n.1305+62687G>A) c.1098+80940G>A (n.1098+80940G>A) c.629G>A (p.Cys210Tyr) c.876+184275G>A (n.876+184275G>A) c.1784+20104G>A (n.1784+20104G>A) c.-24-275733G>A (n.-24-275733G>A) n.2809G>A | |
| 10 | g.54132997A= | CA1910947624 | PCDH15 | c.1831T= (p.Cys611=) c.1795T= (p.Cys599=) c.1816T= (p.Cys606=) c.654T= c.1810T= (p.Cys604=) c.1684T= (p.Cys562=) c.1729T= (p.Cys577=) c.1305+62686T= (n.1305+62686T=) c.1098+80939T= (n.1098+80939T=) c.628T= (p.Cys210=) c.876+184274T= (n.876+184274T=) c.1784+20103T= (n.1784+20103T=) c.-24-275734T= (n.-24-275734T=) n.2808T= | |
| 10 | g.54132997A>C | CA376515320 | PCDH15 | c.1831T>G (p.Cys611Gly) c.1795T>G (p.Cys599Gly) c.1816T>G (p.Cys606Gly) c.654T>G c.1810T>G (p.Cys604Gly) c.1684T>G (p.Cys562Gly) c.1729T>G (p.Cys577Gly) c.1305+62686T>G (n.1305+62686T>G) c.1098+80939T>G (n.1098+80939T>G) c.628T>G (p.Cys210Gly) c.876+184274T>G (n.876+184274T>G) c.1784+20103T>G (n.1784+20103T>G) c.-24-275734T>G (n.-24-275734T>G) n.2808T>G | |
| 10 | g.54132997A>G | CA376515321 | PCDH15 | c.1831T>C (p.Cys611Arg) c.1795T>C (p.Cys599Arg) c.1816T>C (p.Cys606Arg) c.654T>C c.1810T>C (p.Cys604Arg) c.1684T>C (p.Cys562Arg) c.1729T>C (p.Cys577Arg) c.1305+62686T>C (n.1305+62686T>C) c.1098+80939T>C (n.1098+80939T>C) c.628T>C (p.Cys210Arg) c.876+184274T>C (n.876+184274T>C) c.1784+20103T>C (n.1784+20103T>C) c.-24-275734T>C (n.-24-275734T>C) n.2808T>C | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.54132997A>T | CA376515322 | PCDH15 | c.1831T>A (p.Cys611Ser) c.1795T>A (p.Cys599Ser) c.1816T>A (p.Cys606Ser) c.654T>A c.1810T>A (p.Cys604Ser) c.1684T>A (p.Cys562Ser) c.1729T>A (p.Cys577Ser) c.1305+62686T>A (n.1305+62686T>A) c.1098+80939T>A (n.1098+80939T>A) c.628T>A (p.Cys210Ser) c.876+184274T>A (n.876+184274T>A) c.1784+20103T>A (n.1784+20103T>A) c.-24-275734T>A (n.-24-275734T>A) n.2808T>A | |
| 10 | g.54132998G>A | CA469493333 | PCDH15 | c.1830C>T (p.Ile610=) c.1794C>T (p.Ile598=) c.1815C>T (p.Ile605=) c.653C>T c.1809C>T (p.Ile603=) c.1683C>T (p.Ile561=) c.1728C>T (p.Ile576=) c.1305+62685C>T (n.1305+62685C>T) c.1098+80938C>T (n.1098+80938C>T) c.627C>T (p.Ile209=) c.876+184273C>T (n.876+184273C>T) c.1784+20102C>T (n.1784+20102C>T) c.-24-275735C>T (n.-24-275735C>T) n.2807C>T | COSMIC COSMIC COSMIC COSMIC |
| 10 | g.54132998G>C | CA376515324 | PCDH15 | c.1830C>G (p.Ile610Met) c.1794C>G (p.Ile598Met) c.1815C>G (p.Ile605Met) c.653C>G c.1809C>G (p.Ile603Met) c.1683C>G (p.Ile561Met) c.1728C>G (p.Ile576Met) c.1305+62685C>G (n.1305+62685C>G) c.1098+80938C>G (n.1098+80938C>G) c.627C>G (p.Ile209Met) c.876+184273C>G (n.876+184273C>G) c.1784+20102C>G (n.1784+20102C>G) c.-24-275735C>G (n.-24-275735C>G) n.2807C>G | |
| 10 | g.54132998G>T | CA469493332 | PCDH15 | c.1830C>A (p.Ile610=) c.1794C>A (p.Ile598=) c.1815C>A (p.Ile605=) c.653C>A c.1809C>A (p.Ile603=) c.1683C>A (p.Ile561=) c.1728C>A (p.Ile576=) c.1305+62685C>A (n.1305+62685C>A) c.1098+80938C>A (n.1098+80938C>A) c.627C>A (p.Ile209=) c.876+184273C>A (n.876+184273C>A) c.1784+20102C>A (n.1784+20102C>A) c.-24-275735C>A (n.-24-275735C>A) n.2807C>A | ClinVar gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.54132999A= | CA1910947626 | PCDH15 | c.1829T= (p.Ile610=) c.1793T= (p.Ile598=) c.1814T= (p.Ile605=) c.652T= c.1808T= (p.Ile603=) c.1682T= (p.Ile561=) c.1727T= (p.Ile576=) c.1305+62684T= (n.1305+62684T=) c.1098+80937T= (n.1098+80937T=) c.626T= (p.Ile209=) c.876+184272T= (n.876+184272T=) c.1784+20101T= (n.1784+20101T=) c.-24-275736T= (n.-24-275736T=) n.2806T= | |
| 10 | g.54132999A>C | CA376515326 | PCDH15 | c.1829T>G (p.Ile610Ser) c.1793T>G (p.Ile598Ser) c.1814T>G (p.Ile605Ser) c.652T>G c.1808T>G (p.Ile603Ser) c.1682T>G (p.Ile561Ser) c.1727T>G (p.Ile576Ser) c.1305+62684T>G (n.1305+62684T>G) c.1098+80937T>G (n.1098+80937T>G) c.626T>G (p.Ile209Ser) c.876+184272T>G (n.876+184272T>G) c.1784+20101T>G (n.1784+20101T>G) c.-24-275736T>G (n.-24-275736T>G) n.2806T>G | |
| 10 | g.54132999A>G | CA376515329 | PCDH15 | c.1829T>C (p.Ile610Thr) c.1793T>C (p.Ile598Thr) c.1814T>C (p.Ile605Thr) c.652T>C c.1808T>C (p.Ile603Thr) c.1682T>C (p.Ile561Thr) c.1727T>C (p.Ile576Thr) c.1305+62684T>C (n.1305+62684T>C) c.1098+80937T>C (n.1098+80937T>C) c.626T>C (p.Ile209Thr) c.876+184272T>C (n.876+184272T>C) c.1784+20101T>C (n.1784+20101T>C) c.-24-275736T>C (n.-24-275736T>C) n.2806T>C | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.54132999A>T | CA376515334 | PCDH15 | c.1829T>A (p.Ile610Asn) c.1793T>A (p.Ile598Asn) c.1814T>A (p.Ile605Asn) c.652T>A c.1808T>A (p.Ile603Asn) c.1682T>A (p.Ile561Asn) c.1727T>A (p.Ile576Asn) c.1305+62684T>A (n.1305+62684T>A) c.1098+80937T>A (n.1098+80937T>A) c.626T>A (p.Ile209Asn) c.876+184272T>A (n.876+184272T>A) c.1784+20101T>A (n.1784+20101T>A) c.-24-275736T>A (n.-24-275736T>A) n.2806T>A | |
| 10 | g.54133000T>A | CA376515339 | PCDH15 | c.1828A>T (p.Ile610Phe) c.1792A>T (p.Ile598Phe) c.1813A>T (p.Ile605Phe) c.651A>T c.1807A>T (p.Ile603Phe) c.1681A>T (p.Ile561Phe) c.1726A>T (p.Ile576Phe) c.1305+62683A>T (n.1305+62683A>T) c.1098+80936A>T (n.1098+80936A>T) c.625A>T (p.Ile209Phe) c.876+184271A>T (n.876+184271A>T) c.1784+20100A>T (n.1784+20100A>T) c.-24-275737A>T (n.-24-275737A>T) n.2805A>T | |
| 10 | g.54133000T>C | CA5506253 | PCDH15 | c.1828A>G (p.Ile610Val) c.1792A>G (p.Ile598Val) c.1813A>G (p.Ile605Val) c.651A>G c.1807A>G (p.Ile603Val) c.1681A>G (p.Ile561Val) c.1726A>G (p.Ile576Val) c.1305+62683A>G (n.1305+62683A>G) c.1098+80936A>G (n.1098+80936A>G) c.625A>G (p.Ile209Val) c.876+184271A>G (n.876+184271A>G) c.1784+20100A>G (n.1784+20100A>G) c.-24-275737A>G (n.-24-275737A>G) n.2805A>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 10 | g.54133000T>G | CA376515336 | PCDH15 | c.1828A>C (p.Ile610Leu) c.1792A>C (p.Ile598Leu) c.1813A>C (p.Ile605Leu) c.651A>C c.1807A>C (p.Ile603Leu) c.1681A>C (p.Ile561Leu) c.1726A>C (p.Ile576Leu) c.1305+62683A>C (n.1305+62683A>C) c.1098+80936A>C (n.1098+80936A>C) c.625A>C (p.Ile209Leu) c.876+184271A>C (n.876+184271A>C) c.1784+20100A>C (n.1784+20100A>C) c.-24-275737A>C (n.-24-275737A>C) n.2805A>C | |
| 10 | g.54133000T= | CA1910947629 | PCDH15 | c.1828A= (p.Ile610=) c.1792A= (p.Ile598=) c.1813A= (p.Ile605=) c.651A= c.1807A= (p.Ile603=) c.1681A= (p.Ile561=) c.1726A= (p.Ile576=) c.1305+62683A= (n.1305+62683A=) c.1098+80936A= (n.1098+80936A=) c.625A= (p.Ile209=) c.876+184271A= (n.876+184271A=) c.1784+20100A= (n.1784+20100A=) c.-24-275737A= (n.-24-275737A=) n.2805A= | |
| 10 | g.54133001G>A | CA469493335 | PCDH15 | c.1827C>T (p.Ser609=) c.1791C>T (p.Ser597=) c.1812C>T (p.Ser604=) c.650C>T c.1806C>T (p.Ser602=) c.1680C>T (p.Ser560=) c.1725C>T (p.Ser575=) c.1305+62682C>T (n.1305+62682C>T) c.1098+80935C>T (n.1098+80935C>T) c.624C>T (p.Ser208=) c.876+184270C>T (n.876+184270C>T) c.1784+20099C>T (n.1784+20099C>T) c.-24-275738C>T (n.-24-275738C>T) n.2804C>T | |
| 10 | g.54133001G>C | CA469493336 | PCDH15 | c.1827C>G (p.Ser609=) c.1791C>G (p.Ser597=) c.1812C>G (p.Ser604=) c.650C>G c.1806C>G (p.Ser602=) c.1680C>G (p.Ser560=) c.1725C>G (p.Ser575=) c.1305+62682C>G (n.1305+62682C>G) c.1098+80935C>G (n.1098+80935C>G) c.624C>G (p.Ser208=) c.876+184270C>G (n.876+184270C>G) c.1784+20099C>G (n.1784+20099C>G) c.-24-275738C>G (n.-24-275738C>G) n.2804C>G | |
| 10 | g.54133001G>T | CA469493337 | PCDH15 | c.1827C>A (p.Ser609=) c.1791C>A (p.Ser597=) c.1812C>A (p.Ser604=) c.650C>A c.1806C>A (p.Ser602=) c.1680C>A (p.Ser560=) c.1725C>A (p.Ser575=) c.1305+62682C>A (n.1305+62682C>A) c.1098+80935C>A (n.1098+80935C>A) c.624C>A (p.Ser208=) c.876+184270C>A (n.876+184270C>A) c.1784+20099C>A (n.1784+20099C>A) c.-24-275738C>A (n.-24-275738C>A) n.2804C>A | |
| 10 | g.54133002G>A | CA207196691 | PCDH15 | c.1826C>T (p.Ser609Phe) c.1790C>T (p.Ser597Phe) c.1811C>T (p.Ser604Phe) c.649C>T c.1805C>T (p.Ser602Phe) c.1679C>T (p.Ser560Phe) c.1724C>T (p.Ser575Phe) c.1305+62681C>T (n.1305+62681C>T) c.1098+80934C>T (n.1098+80934C>T) c.623C>T (p.Ser208Phe) c.876+184269C>T (n.876+184269C>T) c.1784+20098C>T (n.1784+20098C>T) c.-24-275739C>T (n.-24-275739C>T) n.2803C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.54133002G>C | CA376515353 | PCDH15 | c.1826C>G (p.Ser609Cys) c.1790C>G (p.Ser597Cys) c.1811C>G (p.Ser604Cys) c.649C>G c.1805C>G (p.Ser602Cys) c.1679C>G (p.Ser560Cys) c.1724C>G (p.Ser575Cys) c.1305+62681C>G (n.1305+62681C>G) c.1098+80934C>G (n.1098+80934C>G) c.623C>G (p.Ser208Cys) c.876+184269C>G (n.876+184269C>G) c.1784+20098C>G (n.1784+20098C>G) c.-24-275739C>G (n.-24-275739C>G) n.2803C>G | |
| 10 | g.54133002G= | CA1910947633 | PCDH15 | c.1826C= (p.Ser609=) c.1790C= (p.Ser597=) c.1811C= (p.Ser604=) c.649C= c.1805C= (p.Ser602=) c.1679C= (p.Ser560=) c.1724C= (p.Ser575=) c.1305+62681C= (n.1305+62681C=) c.1098+80934C= (n.1098+80934C=) c.623C= (p.Ser208=) c.876+184269C= (n.876+184269C=) c.1784+20098C= (n.1784+20098C=) c.-24-275739C= (n.-24-275739C=) n.2803C= | |
| 10 | g.54133002G>T | CA376515351 | PCDH15 | c.1826C>A (p.Ser609Tyr) c.1790C>A (p.Ser597Tyr) c.1811C>A (p.Ser604Tyr) c.649C>A c.1805C>A (p.Ser602Tyr) c.1679C>A (p.Ser560Tyr) c.1724C>A (p.Ser575Tyr) c.1305+62681C>A (n.1305+62681C>A) c.1098+80934C>A (n.1098+80934C>A) c.623C>A (p.Ser208Tyr) c.876+184269C>A (n.876+184269C>A) c.1784+20098C>A (n.1784+20098C>A) c.-24-275739C>A (n.-24-275739C>A) n.2803C>A | |
| 10 | g.54133003del | CA2580081639 | PCDH15 | c.1825del (p.Ser609ProfsTer23) c.1789del (p.Ser597ProfsTer23) c.1810del (p.Ser604ProfsTer23) c.648del c.1804del (p.Ser602ProfsTer23) c.1678del (p.Ser560ProfsTer23) c.1723del (p.Ser575ProfsTer23) c.1305+62680del (n.1305+62680del) c.1098+80933del (n.1098+80933del) c.622del (p.Ser208ProfsTer23) c.876+184268del (n.876+184268del) c.1784+20097del (n.1784+20097del) c.-24-275740del (n.-24-275740del) n.2802del | ClinVar |
| 10 | g.54133003A>C | CA376515354 | PCDH15 | c.1825T>G (p.Ser609Ala) c.1789T>G (p.Ser597Ala) c.1810T>G (p.Ser604Ala) c.648T>G c.1804T>G (p.Ser602Ala) c.1678T>G (p.Ser560Ala) c.1723T>G (p.Ser575Ala) c.1305+62680T>G (n.1305+62680T>G) c.1098+80933T>G (n.1098+80933T>G) c.622T>G (p.Ser208Ala) c.876+184268T>G (n.876+184268T>G) c.1784+20097T>G (n.1784+20097T>G) c.-24-275740T>G (n.-24-275740T>G) n.2802T>G | |
| 10 | g.54133003A>G | CA376515356 | PCDH15 | c.1825T>C (p.Ser609Pro) c.1789T>C (p.Ser597Pro) c.1810T>C (p.Ser604Pro) c.648T>C c.1804T>C (p.Ser602Pro) c.1678T>C (p.Ser560Pro) c.1723T>C (p.Ser575Pro) c.1305+62680T>C (n.1305+62680T>C) c.1098+80933T>C (n.1098+80933T>C) c.622T>C (p.Ser208Pro) c.876+184268T>C (n.876+184268T>C) c.1784+20097T>C (n.1784+20097T>C) c.-24-275740T>C (n.-24-275740T>C) n.2802T>C | ClinVar dbSNP |
| 10 | g.54133003A>T | CA376515355 | PCDH15 | c.1825T>A (p.Ser609Thr) c.1789T>A (p.Ser597Thr) c.1810T>A (p.Ser604Thr) c.648T>A c.1804T>A (p.Ser602Thr) c.1678T>A (p.Ser560Thr) c.1723T>A (p.Ser575Thr) c.1305+62680T>A (n.1305+62680T>A) c.1098+80933T>A (n.1098+80933T>A) c.622T>A (p.Ser208Thr) c.876+184268T>A (n.876+184268T>A) c.1784+20097T>A (n.1784+20097T>A) c.-24-275740T>A (n.-24-275740T>A) n.2802T>A | |
| 10 | g.54133004G>A | CA469493341 | PCDH15 | c.1824C>T (p.Asn608=) c.1788C>T (p.Asn596=) c.1809C>T (p.Asn603=) c.647C>T c.1803C>T (p.Asn601=) c.1677C>T (p.Asn559=) c.1722C>T (p.Asn574=) c.1305+62679C>T (n.1305+62679C>T) c.1098+80932C>T (n.1098+80932C>T) c.621C>T (p.Asn207=) c.876+184267C>T (n.876+184267C>T) c.1784+20096C>T (n.1784+20096C>T) c.-24-275741C>T (n.-24-275741C>T) n.2801C>T | |
| 10 | g.54133004G>C | CA376515357 | PCDH15 | c.1824C>G (p.Asn608Lys) c.1788C>G (p.Asn596Lys) c.1809C>G (p.Asn603Lys) c.647C>G c.1803C>G (p.Asn601Lys) c.1677C>G (p.Asn559Lys) c.1722C>G (p.Asn574Lys) c.1305+62679C>G (n.1305+62679C>G) c.1098+80932C>G (n.1098+80932C>G) c.621C>G (p.Asn207Lys) c.876+184267C>G (n.876+184267C>G) c.1784+20096C>G (n.1784+20096C>G) c.-24-275741C>G (n.-24-275741C>G) n.2801C>G | gnomAD v4 |
| 10 | g.54133004G>T | CA376515360 | PCDH15 | c.1824C>A (p.Asn608Lys) c.1788C>A (p.Asn596Lys) c.1809C>A (p.Asn603Lys) c.647C>A c.1803C>A (p.Asn601Lys) c.1677C>A (p.Asn559Lys) c.1722C>A (p.Asn574Lys) c.1305+62679C>A (n.1305+62679C>A) c.1098+80932C>A (n.1098+80932C>A) c.621C>A (p.Asn207Lys) c.876+184267C>A (n.876+184267C>A) c.1784+20096C>A (n.1784+20096C>A) c.-24-275741C>A (n.-24-275741C>A) n.2801C>A | |
| 10 | g.54133005T>A | CA376515362 | PCDH15 | c.1823A>T (p.Asn608Ile) c.1787A>T (p.Asn596Ile) c.1808A>T (p.Asn603Ile) c.646A>T c.1802A>T (p.Asn601Ile) c.1676A>T (p.Asn559Ile) c.1721A>T (p.Asn574Ile) c.1305+62678A>T (n.1305+62678A>T) c.1098+80931A>T (n.1098+80931A>T) c.620A>T (p.Asn207Ile) c.876+184266A>T (n.876+184266A>T) c.1784+20095A>T (n.1784+20095A>T) c.-24-275742A>T (n.-24-275742A>T) n.2800A>T | |
| 10 | g.54133005T>C | CA376515378 | PCDH15 | c.1823A>G (p.Asn608Ser) c.1787A>G (p.Asn596Ser) c.1808A>G (p.Asn603Ser) c.646A>G c.1802A>G (p.Asn601Ser) c.1676A>G (p.Asn559Ser) c.1721A>G (p.Asn574Ser) c.1305+62678A>G (n.1305+62678A>G) c.1098+80931A>G (n.1098+80931A>G) c.620A>G (p.Asn207Ser) c.876+184266A>G (n.876+184266A>G) c.1784+20095A>G (n.1784+20095A>G) c.-24-275742A>G (n.-24-275742A>G) n.2800A>G | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.54133005T>G | CA376515364 | PCDH15 | c.1823A>C (p.Asn608Thr) c.1787A>C (p.Asn596Thr) c.1808A>C (p.Asn603Thr) c.646A>C c.1802A>C (p.Asn601Thr) c.1676A>C (p.Asn559Thr) c.1721A>C (p.Asn574Thr) c.1305+62678A>C (n.1305+62678A>C) c.1098+80931A>C (n.1098+80931A>C) c.620A>C (p.Asn207Thr) c.876+184266A>C (n.876+184266A>C) c.1784+20095A>C (n.1784+20095A>C) c.-24-275742A>C (n.-24-275742A>C) n.2800A>C | COSMIC COSMIC COSMIC COSMIC |
| 10 | g.54133005T= | CA1910947638 | PCDH15 | c.1823A= (p.Asn608=) c.1787A= (p.Asn596=) c.1808A= (p.Asn603=) c.646A= c.1802A= (p.Asn601=) c.1676A= (p.Asn559=) c.1721A= (p.Asn574=) c.1305+62678A= (n.1305+62678A=) c.1098+80931A= (n.1098+80931A=) c.620A= (p.Asn207=) c.876+184266A= (n.876+184266A=) c.1784+20095A= (n.1784+20095A=) c.-24-275742A= (n.-24-275742A=) n.2800A= | |
| 10 | g.54133006T>A | CA376515381 | PCDH15 | c.1822A>T (p.Asn608Tyr) c.1786A>T (p.Asn596Tyr) c.1807A>T (p.Asn603Tyr) c.645A>T c.1801A>T (p.Asn601Tyr) c.1675A>T (p.Asn559Tyr) c.1720A>T (p.Asn574Tyr) c.1305+62677A>T (n.1305+62677A>T) c.1098+80930A>T (n.1098+80930A>T) c.619A>T (p.Asn207Tyr) c.876+184265A>T (n.876+184265A>T) c.1784+20094A>T (n.1784+20094A>T) c.-24-275743A>T (n.-24-275743A>T) n.2799A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.54133006T>C | CA376515388 | PCDH15 | c.1822A>G (p.Asn608Asp) c.1786A>G (p.Asn596Asp) c.1807A>G (p.Asn603Asp) c.645A>G c.1801A>G (p.Asn601Asp) c.1675A>G (p.Asn559Asp) c.1720A>G (p.Asn574Asp) c.1305+62677A>G (n.1305+62677A>G) c.1098+80930A>G (n.1098+80930A>G) c.619A>G (p.Asn207Asp) c.876+184265A>G (n.876+184265A>G) c.1784+20094A>G (n.1784+20094A>G) c.-24-275743A>G (n.-24-275743A>G) n.2799A>G | COSMIC COSMIC COSMIC COSMIC |
| 10 | g.54133006T>G | CA376515385 | PCDH15 | c.1822A>C (p.Asn608His) c.1786A>C (p.Asn596His) c.1807A>C (p.Asn603His) c.645A>C c.1801A>C (p.Asn601His) c.1675A>C (p.Asn559His) c.1720A>C (p.Asn574His) c.1305+62677A>C (n.1305+62677A>C) c.1098+80930A>C (n.1098+80930A>C) c.619A>C (p.Asn207His) c.876+184265A>C (n.876+184265A>C) c.1784+20094A>C (n.1784+20094A>C) c.-24-275743A>C (n.-24-275743A>C) n.2799A>C |