Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71784912C>A | CA377146331 | CDH23 | c.5524C>A (p.Leu1842Met) c.5539C>A (p.Leu1847Met) c.5719C>A (p.Leu1907Met) c.5653C>A (p.Leu1885Met) c.5716C>A (p.Leu1906Met) c.5713C>A (p.Leu1905Met) c.5659C>A (p.Leu1887Met) c.5584C>A (p.Leu1862Met) c.5179C>A (p.Leu1727Met) c.4537C>A (p.Leu1513Met) c.2047C>A (p.Leu683Met) n.5962C>A | |
10 | g.71784912C>G | CA377146329 | CDH23 | c.5524C>G (p.Leu1842Val) c.5539C>G (p.Leu1847Val) c.5719C>G (p.Leu1907Val) c.5653C>G (p.Leu1885Val) c.5716C>G (p.Leu1906Val) c.5713C>G (p.Leu1905Val) c.5659C>G (p.Leu1887Val) c.5584C>G (p.Leu1862Val) c.5179C>G (p.Leu1727Val) c.4537C>G (p.Leu1513Val) c.2047C>G (p.Leu683Val) n.5962C>G | |
10 | g.71784912C>T | CA470060698 | CDH23 | c.5524C>T (p.Leu1842=) c.5539C>T (p.Leu1847=) c.5719C>T (p.Leu1907=) c.5653C>T (p.Leu1885=) c.5716C>T (p.Leu1906=) c.5713C>T (p.Leu1905=) c.5659C>T (p.Leu1887=) c.5584C>T (p.Leu1862=) c.5179C>T (p.Leu1727=) c.4537C>T (p.Leu1513=) c.2047C>T (p.Leu683=) n.5962C>T | dbSNP |
10 | g.71784913T>A | CA377146333 | CDH23 | c.5525T>A (p.Leu1842Gln) c.5540T>A (p.Leu1847Gln) c.5720T>A (p.Leu1907Gln) c.5654T>A (p.Leu1885Gln) c.5717T>A (p.Leu1906Gln) c.5714T>A (p.Leu1905Gln) c.5660T>A (p.Leu1887Gln) c.5585T>A (p.Leu1862Gln) c.5180T>A (p.Leu1727Gln) c.4538T>A (p.Leu1513Gln) c.2048T>A (p.Leu683Gln) n.5963T>A | |
10 | g.71784913T>C | CA377146336 | CDH23 | c.5525T>C (p.Leu1842Pro) c.5540T>C (p.Leu1847Pro) c.5720T>C (p.Leu1907Pro) c.5654T>C (p.Leu1885Pro) c.5717T>C (p.Leu1906Pro) c.5714T>C (p.Leu1905Pro) c.5660T>C (p.Leu1887Pro) c.5585T>C (p.Leu1862Pro) c.5180T>C (p.Leu1727Pro) c.4538T>C (p.Leu1513Pro) c.2048T>C (p.Leu683Pro) n.5963T>C | dbSNP gnomAD v4 |
10 | g.71784913T>G | CA377146340 | CDH23 | c.5525T>G (p.Leu1842Arg) c.5540T>G (p.Leu1847Arg) c.5720T>G (p.Leu1907Arg) c.5654T>G (p.Leu1885Arg) c.5717T>G (p.Leu1906Arg) c.5714T>G (p.Leu1905Arg) c.5660T>G (p.Leu1887Arg) c.5585T>G (p.Leu1862Arg) c.5180T>G (p.Leu1727Arg) c.4538T>G (p.Leu1513Arg) c.2048T>G (p.Leu683Arg) n.5963T>G | |
10 | g.71784913T= | CA1918862099 | CDH23 | c.5525T= (p.Leu1842=) c.5540T= (p.Leu1847=) c.5720T= (p.Leu1907=) c.5654T= (p.Leu1885=) c.5717T= (p.Leu1906=) c.5714T= (p.Leu1905=) c.5660T= (p.Leu1887=) c.5585T= (p.Leu1862=) c.5180T= (p.Leu1727=) c.4538T= (p.Leu1513=) c.2048T= (p.Leu683=) n.5963T= | |
10 | g.71784914G>A | CA470060699 | CDH23 | c.5526G>A (p.Leu1842=) c.5541G>A (p.Leu1847=) c.5721G>A (p.Leu1907=) c.5655G>A (p.Leu1885=) c.5718G>A (p.Leu1906=) c.5715G>A (p.Leu1905=) c.5661G>A (p.Leu1887=) c.5586G>A (p.Leu1862=) c.5181G>A (p.Leu1727=) c.4539G>A (p.Leu1513=) c.2049G>A (p.Leu683=) n.5964G>A | |
10 | g.71784914G>C | CA209457399 | CDH23 | c.5526G>C (p.Leu1842=) c.5541G>C (p.Leu1847=) c.5721G>C (p.Leu1907=) c.5655G>C (p.Leu1885=) c.5718G>C (p.Leu1906=) c.5715G>C (p.Leu1905=) c.5661G>C (p.Leu1887=) c.5586G>C (p.Leu1862=) c.5181G>C (p.Leu1727=) c.4539G>C (p.Leu1513=) c.2049G>C (p.Leu683=) n.5964G>C | dbSNP |
10 | g.71784914G= | CA1918862106 | CDH23 | c.5526G= (p.Leu1842=) c.5541G= (p.Leu1847=) c.5721G= (p.Leu1907=) c.5655G= (p.Leu1885=) c.5718G= (p.Leu1906=) c.5715G= (p.Leu1905=) c.5661G= (p.Leu1887=) c.5586G= (p.Leu1862=) c.5181G= (p.Leu1727=) c.4539G= (p.Leu1513=) c.2049G= (p.Leu683=) n.5964G= | |
10 | g.71784914G>T | CA470060700 | CDH23 | c.5526G>T (p.Leu1842=) c.5541G>T (p.Leu1847=) c.5721G>T (p.Leu1907=) c.5655G>T (p.Leu1885=) c.5718G>T (p.Leu1906=) c.5715G>T (p.Leu1905=) c.5661G>T (p.Leu1887=) c.5586G>T (p.Leu1862=) c.5181G>T (p.Leu1727=) c.4539G>T (p.Leu1513=) c.2049G>T (p.Leu683=) n.5964G>T | |
10 | g.71784915G>A | CA377146351 | CDH23 | c.5527G>A (p.Asp1843Asn) c.5542G>A (p.Asp1848Asn) c.5722G>A (p.Asp1908Asn) c.5656G>A (p.Asp1886Asn) c.5719G>A (p.Asp1907Asn) c.5716G>A (p.Asp1906Asn) c.5662G>A (p.Asp1888Asn) c.5587G>A (p.Asp1863Asn) c.5182G>A (p.Asp1728Asn) c.4540G>A (p.Asp1514Asn) c.2050G>A (p.Asp684Asn) n.5965G>A | COSMIC |
10 | g.71784915G>C | CA377146353 | CDH23 | c.5527G>C (p.Asp1843His) c.5542G>C (p.Asp1848His) c.5722G>C (p.Asp1908His) c.5656G>C (p.Asp1886His) c.5719G>C (p.Asp1907His) c.5716G>C (p.Asp1906His) c.5662G>C (p.Asp1888His) c.5587G>C (p.Asp1863His) c.5182G>C (p.Asp1728His) c.4540G>C (p.Asp1514His) c.2050G>C (p.Asp684His) n.5965G>C | dbSNP |
10 | g.71784915G= | CA1918862117 | CDH23 | c.5527G= (p.Asp1843=) c.5542G= (p.Asp1848=) c.5722G= (p.Asp1908=) c.5656G= (p.Asp1886=) c.5719G= (p.Asp1907=) c.5716G= (p.Asp1906=) c.5662G= (p.Asp1888=) c.5587G= (p.Asp1863=) c.5182G= (p.Asp1728=) c.4540G= (p.Asp1514=) c.2050G= (p.Asp684=) n.5965G= | |
10 | g.71784915G>T | CA377146355 | CDH23 | c.5527G>T (p.Asp1843Tyr) c.5542G>T (p.Asp1848Tyr) c.5722G>T (p.Asp1908Tyr) c.5656G>T (p.Asp1886Tyr) c.5719G>T (p.Asp1907Tyr) c.5716G>T (p.Asp1906Tyr) c.5662G>T (p.Asp1888Tyr) c.5587G>T (p.Asp1863Tyr) c.5182G>T (p.Asp1728Tyr) c.4540G>T (p.Asp1514Tyr) c.2050G>T (p.Asp684Tyr) n.5965G>T | |
10 | g.71784916A>C | CA377146358 | CDH23 | c.5528A>C (p.Asp1843Ala) c.5543A>C (p.Asp1848Ala) c.5723A>C (p.Asp1908Ala) c.5657A>C (p.Asp1886Ala) c.5720A>C (p.Asp1907Ala) c.5717A>C (p.Asp1906Ala) c.5663A>C (p.Asp1888Ala) c.5588A>C (p.Asp1863Ala) c.5183A>C (p.Asp1728Ala) c.4541A>C (p.Asp1514Ala) c.2051A>C (p.Asp684Ala) n.5966A>C | |
10 | g.71784916A>G | CA377146362 | CDH23 | c.5528A>G (p.Asp1843Gly) c.5543A>G (p.Asp1848Gly) c.5723A>G (p.Asp1908Gly) c.5657A>G (p.Asp1886Gly) c.5720A>G (p.Asp1907Gly) c.5717A>G (p.Asp1906Gly) c.5663A>G (p.Asp1888Gly) c.5588A>G (p.Asp1863Gly) c.5183A>G (p.Asp1728Gly) c.4541A>G (p.Asp1514Gly) c.2051A>G (p.Asp684Gly) n.5966A>G | |
10 | g.71784916A>T | CA377146364 | CDH23 | c.5528A>T (p.Asp1843Val) c.5543A>T (p.Asp1848Val) c.5723A>T (p.Asp1908Val) c.5657A>T (p.Asp1886Val) c.5720A>T (p.Asp1907Val) c.5717A>T (p.Asp1906Val) c.5663A>T (p.Asp1888Val) c.5588A>T (p.Asp1863Val) c.5183A>T (p.Asp1728Val) c.4541A>T (p.Asp1514Val) c.2051A>T (p.Asp684Val) n.5966A>T | |
10 | g.71784917C>A | CA377146369 | CDH23 | c.5529C>A (p.Asp1843Glu) c.5544C>A (p.Asp1848Glu) c.5724C>A (p.Asp1908Glu) c.5658C>A (p.Asp1886Glu) c.5721C>A (p.Asp1907Glu) c.5718C>A (p.Asp1906Glu) c.5664C>A (p.Asp1888Glu) c.5589C>A (p.Asp1863Glu) c.5184C>A (p.Asp1728Glu) c.4542C>A (p.Asp1514Glu) c.2052C>A (p.Asp684Glu) n.5967C>A | |
10 | g.71784917C= | CA1918862124 | CDH23 | c.5529C= (p.Asp1843=) c.5544C= (p.Asp1848=) c.5724C= (p.Asp1908=) c.5658C= (p.Asp1886=) c.5721C= (p.Asp1907=) c.5718C= (p.Asp1906=) c.5664C= (p.Asp1888=) c.5589C= (p.Asp1863=) c.5184C= (p.Asp1728=) c.4542C= (p.Asp1514=) c.2052C= (p.Asp684=) n.5967C= | |
10 | g.71784917C>G | CA377146373 | CDH23 | c.5529C>G (p.Asp1843Glu) c.5544C>G (p.Asp1848Glu) c.5724C>G (p.Asp1908Glu) c.5658C>G (p.Asp1886Glu) c.5721C>G (p.Asp1907Glu) c.5718C>G (p.Asp1906Glu) c.5664C>G (p.Asp1888Glu) c.5589C>G (p.Asp1863Glu) c.5184C>G (p.Asp1728Glu) c.4542C>G (p.Asp1514Glu) c.2052C>G (p.Asp684Glu) n.5967C>G | |
10 | g.71784917C>T | CA5545805 | CDH23 | c.5529C>T (p.Asp1843=) c.5544C>T (p.Asp1848=) c.5724C>T (p.Asp1908=) c.5658C>T (p.Asp1886=) c.5721C>T (p.Asp1907=) c.5718C>T (p.Asp1906=) c.5664C>T (p.Asp1888=) c.5589C>T (p.Asp1863=) c.5184C>T (p.Asp1728=) c.4542C>T (p.Asp1514=) c.2052C>T (p.Asp684=) n.5967C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71784918A= | CA1918862134 | CDH23 | c.5530A= (p.Ile1844=) c.5545A= (p.Ile1849=) c.5725A= (p.Ile1909=) c.5659A= (p.Ile1887=) c.5722A= (p.Ile1908=) c.5719A= (p.Ile1907=) c.5665A= (p.Ile1889=) c.5590A= (p.Ile1864=) c.5185A= (p.Ile1729=) c.4543A= (p.Ile1515=) c.2053A= (p.Ile685=) n.5968A= | |
10 | g.71784918A>C | CA377146377 | CDH23 | c.5530A>C (p.Ile1844Leu) c.5545A>C (p.Ile1849Leu) c.5725A>C (p.Ile1909Leu) c.5659A>C (p.Ile1887Leu) c.5722A>C (p.Ile1908Leu) c.5719A>C (p.Ile1907Leu) c.5665A>C (p.Ile1889Leu) c.5590A>C (p.Ile1864Leu) c.5185A>C (p.Ile1729Leu) c.4543A>C (p.Ile1515Leu) c.2053A>C (p.Ile685Leu) n.5968A>C | dbSNP |
10 | g.71784918A>G | CA377146382 | CDH23 | c.5530A>G (p.Ile1844Val) c.5545A>G (p.Ile1849Val) c.5725A>G (p.Ile1909Val) c.5659A>G (p.Ile1887Val) c.5722A>G (p.Ile1908Val) c.5719A>G (p.Ile1907Val) c.5665A>G (p.Ile1889Val) c.5590A>G (p.Ile1864Val) c.5185A>G (p.Ile1729Val) c.4543A>G (p.Ile1515Val) c.2053A>G (p.Ile685Val) n.5968A>G | gnomAD v4 |
10 | g.71784918A>T | CA377146380 | CDH23 | c.5530A>T (p.Ile1844Phe) c.5545A>T (p.Ile1849Phe) c.5725A>T (p.Ile1909Phe) c.5659A>T (p.Ile1887Phe) c.5722A>T (p.Ile1908Phe) c.5719A>T (p.Ile1907Phe) c.5665A>T (p.Ile1889Phe) c.5590A>T (p.Ile1864Phe) c.5185A>T (p.Ile1729Phe) c.4543A>T (p.Ile1515Phe) c.2053A>T (p.Ile685Phe) n.5968A>T | |
10 | g.71784919T>A | CA377146386 | CDH23 | c.5531T>A (p.Ile1844Asn) c.5546T>A (p.Ile1849Asn) c.5726T>A (p.Ile1909Asn) c.5660T>A (p.Ile1887Asn) c.5723T>A (p.Ile1908Asn) c.5720T>A (p.Ile1907Asn) c.5666T>A (p.Ile1889Asn) c.5591T>A (p.Ile1864Asn) c.5186T>A (p.Ile1729Asn) c.4544T>A (p.Ile1515Asn) c.2054T>A (p.Ile685Asn) n.5969T>A | |
10 | g.71784919T>C | CA377146388 | CDH23 | c.5531T>C (p.Ile1844Thr) c.5546T>C (p.Ile1849Thr) c.5726T>C (p.Ile1909Thr) c.5660T>C (p.Ile1887Thr) c.5723T>C (p.Ile1908Thr) c.5720T>C (p.Ile1907Thr) c.5666T>C (p.Ile1889Thr) c.5591T>C (p.Ile1864Thr) c.5186T>C (p.Ile1729Thr) c.4544T>C (p.Ile1515Thr) c.2054T>C (p.Ile685Thr) n.5969T>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71784919T>G | CA377146391 | CDH23 | c.5531T>G (p.Ile1844Ser) c.5546T>G (p.Ile1849Ser) c.5726T>G (p.Ile1909Ser) c.5660T>G (p.Ile1887Ser) c.5723T>G (p.Ile1908Ser) c.5720T>G (p.Ile1907Ser) c.5666T>G (p.Ile1889Ser) c.5591T>G (p.Ile1864Ser) c.5186T>G (p.Ile1729Ser) c.4544T>G (p.Ile1515Ser) c.2054T>G (p.Ile685Ser) n.5969T>G | |
10 | g.71784919T= | CA1918862135 | CDH23 | c.5531T= (p.Ile1844=) c.5546T= (p.Ile1849=) c.5726T= (p.Ile1909=) c.5660T= (p.Ile1887=) c.5723T= (p.Ile1908=) c.5720T= (p.Ile1907=) c.5666T= (p.Ile1889=) c.5591T= (p.Ile1864=) c.5186T= (p.Ile1729=) c.4544T= (p.Ile1515=) c.2054T= (p.Ile685=) n.5969T= | |
10 | g.71784920C>A | CA470060702 | CDH23 | c.5532C>A (p.Ile1844=) c.5547C>A (p.Ile1849=) c.5727C>A (p.Ile1909=) c.5661C>A (p.Ile1887=) c.5724C>A (p.Ile1908=) c.5721C>A (p.Ile1907=) c.5667C>A (p.Ile1889=) c.5592C>A (p.Ile1864=) c.5187C>A (p.Ile1729=) c.4545C>A (p.Ile1515=) c.2055C>A (p.Ile685=) n.5970C>A | ClinVar |
10 | g.71784920C>G | CA377146399 | CDH23 | c.5532C>G (p.Ile1844Met) c.5547C>G (p.Ile1849Met) c.5727C>G (p.Ile1909Met) c.5661C>G (p.Ile1887Met) c.5724C>G (p.Ile1908Met) c.5721C>G (p.Ile1907Met) c.5667C>G (p.Ile1889Met) c.5592C>G (p.Ile1864Met) c.5187C>G (p.Ile1729Met) c.4545C>G (p.Ile1515Met) c.2055C>G (p.Ile685Met) n.5970C>G | gnomAD v4 |
10 | g.71784920C>T | CA470060701 | CDH23 | c.5532C>T (p.Ile1844=) c.5547C>T (p.Ile1849=) c.5727C>T (p.Ile1909=) c.5661C>T (p.Ile1887=) c.5724C>T (p.Ile1908=) c.5721C>T (p.Ile1907=) c.5667C>T (p.Ile1889=) c.5592C>T (p.Ile1864=) c.5187C>T (p.Ile1729=) c.4545C>T (p.Ile1515=) c.2055C>T (p.Ile685=) n.5970C>T | ClinVar dbSNP |
10 | g.71784921A>C | CA377146402 | CDH23 | c.5533A>C (p.Asn1845His) c.5548A>C (p.Asn1850His) c.5728A>C (p.Asn1910His) c.5662A>C (p.Asn1888His) c.5725A>C (p.Asn1909His) c.5722A>C (p.Asn1908His) c.5668A>C (p.Asn1890His) c.5593A>C (p.Asn1865His) c.5188A>C (p.Asn1730His) c.4546A>C (p.Asn1516His) c.2056A>C (p.Asn686His) n.5971A>C | |
10 | g.71784921A>G | CA377146416 | CDH23 | c.5533A>G (p.Asn1845Asp) c.5548A>G (p.Asn1850Asp) c.5728A>G (p.Asn1910Asp) c.5662A>G (p.Asn1888Asp) c.5725A>G (p.Asn1909Asp) c.5722A>G (p.Asn1908Asp) c.5668A>G (p.Asn1890Asp) c.5593A>G (p.Asn1865Asp) c.5188A>G (p.Asn1730Asp) c.4546A>G (p.Asn1516Asp) c.2056A>G (p.Asn686Asp) n.5971A>G | |
10 | g.71784921A>T | CA377146419 | CDH23 | c.5533A>T (p.Asn1845Tyr) c.5548A>T (p.Asn1850Tyr) c.5728A>T (p.Asn1910Tyr) c.5662A>T (p.Asn1888Tyr) c.5725A>T (p.Asn1909Tyr) c.5722A>T (p.Asn1908Tyr) c.5668A>T (p.Asn1890Tyr) c.5593A>T (p.Asn1865Tyr) c.5188A>T (p.Asn1730Tyr) c.4546A>T (p.Asn1516Tyr) c.2056A>T (p.Asn686Tyr) n.5971A>T | |
10 | g.71784922del | CA2609543712 | CDH23 | c.5534del (p.Asn1845ThrfsTer8) c.5549del (p.Asn1850ThrfsTer8) c.5729del (p.Asn1910ThrfsTer8) c.5663del (p.Asn1888ThrfsTer8) c.5726del (p.Asn1909ThrfsTer8) c.5723del (p.Asn1908ThrfsTer8) c.5669del (p.Asn1890ThrfsTer8) c.5594del (p.Asn1865ThrfsTer8) c.5189del (p.Asn1730ThrfsTer8) c.4547del (p.Asn1516ThrfsTer8) c.2057del (p.Asn686ThrfsTer8) n.5972del | gnomAD v4 |
10 | g.71784922A= | CA1918862137 | CDH23 | c.5534A= (p.Asn1845=) c.5549A= (p.Asn1850=) c.5729A= (p.Asn1910=) c.5663A= (p.Asn1888=) c.5726A= (p.Asn1909=) c.5723A= (p.Asn1908=) c.5669A= (p.Asn1890=) c.5594A= (p.Asn1865=) c.5189A= (p.Asn1730=) c.4547A= (p.Asn1516=) c.2057A= (p.Asn686=) n.5972A= | |
10 | g.71784922A>C | CA377146423 | CDH23 | c.5534A>C (p.Asn1845Thr) c.5549A>C (p.Asn1850Thr) c.5729A>C (p.Asn1910Thr) c.5663A>C (p.Asn1888Thr) c.5726A>C (p.Asn1909Thr) c.5723A>C (p.Asn1908Thr) c.5669A>C (p.Asn1890Thr) c.5594A>C (p.Asn1865Thr) c.5189A>C (p.Asn1730Thr) c.4547A>C (p.Asn1516Thr) c.2057A>C (p.Asn686Thr) n.5972A>C | |
10 | g.71784922A>G | CA377146427 | CDH23 | c.5534A>G (p.Asn1845Ser) c.5549A>G (p.Asn1850Ser) c.5729A>G (p.Asn1910Ser) c.5663A>G (p.Asn1888Ser) c.5726A>G (p.Asn1909Ser) c.5723A>G (p.Asn1908Ser) c.5669A>G (p.Asn1890Ser) c.5594A>G (p.Asn1865Ser) c.5189A>G (p.Asn1730Ser) c.4547A>G (p.Asn1516Ser) c.2057A>G (p.Asn686Ser) n.5972A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71784922A>T | CA377146431 | CDH23 | c.5534A>T (p.Asn1845Ile) c.5549A>T (p.Asn1850Ile) c.5729A>T (p.Asn1910Ile) c.5663A>T (p.Asn1888Ile) c.5726A>T (p.Asn1909Ile) c.5723A>T (p.Asn1908Ile) c.5669A>T (p.Asn1890Ile) c.5594A>T (p.Asn1865Ile) c.5189A>T (p.Asn1730Ile) c.4547A>T (p.Asn1516Ile) c.2057A>T (p.Asn686Ile) n.5972A>T | |
10 | g.71784923C>A | CA377146442 | CDH23 | c.5535C>A (p.Asn1845Lys) c.5550C>A (p.Asn1850Lys) c.5730C>A (p.Asn1910Lys) c.5664C>A (p.Asn1888Lys) c.5727C>A (p.Asn1909Lys) c.5724C>A (p.Asn1908Lys) c.5670C>A (p.Asn1890Lys) c.5595C>A (p.Asn1865Lys) c.5190C>A (p.Asn1730Lys) c.4548C>A (p.Asn1516Lys) c.2058C>A (p.Asn686Lys) n.5973C>A | ClinVar dbSNP gnomAD v4 |
10 | g.71784923C= | CA1918862141 | CDH23 | c.5535C= (p.Asn1845=) c.5550C= (p.Asn1850=) c.5730C= (p.Asn1910=) c.5664C= (p.Asn1888=) c.5727C= (p.Asn1909=) c.5724C= (p.Asn1908=) c.5670C= (p.Asn1890=) c.5595C= (p.Asn1865=) c.5190C= (p.Asn1730=) c.4548C= (p.Asn1516=) c.2058C= (p.Asn686=) n.5973C= | |
10 | g.71784923C>G | CA377146438 | CDH23 | c.5535C>G (p.Asn1845Lys) c.5550C>G (p.Asn1850Lys) c.5730C>G (p.Asn1910Lys) c.5664C>G (p.Asn1888Lys) c.5727C>G (p.Asn1909Lys) c.5724C>G (p.Asn1908Lys) c.5670C>G (p.Asn1890Lys) c.5595C>G (p.Asn1865Lys) c.5190C>G (p.Asn1730Lys) c.4548C>G (p.Asn1516Lys) c.2058C>G (p.Asn686Lys) n.5973C>G | |
10 | g.71784923C>T | CA5545806 | CDH23 | c.5535C>T (p.Asn1845=) c.5550C>T (p.Asn1850=) c.5730C>T (p.Asn1910=) c.5664C>T (p.Asn1888=) c.5727C>T (p.Asn1909=) c.5724C>T (p.Asn1908=) c.5670C>T (p.Asn1890=) c.5595C>T (p.Asn1865=) c.5190C>T (p.Asn1730=) c.4548C>T (p.Asn1516=) c.2058C>T (p.Asn686=) n.5973C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71784924G>A | CA5545807 | CDH23 | c.5536G>A (p.Asp1846Asn) c.5551G>A (p.Asp1851Asn) c.5731G>A (p.Asp1911Asn) c.5665G>A (p.Asp1889Asn) c.5728G>A (p.Asp1910Asn) c.5725G>A (p.Asp1909Asn) c.5671G>A (p.Asp1891Asn) c.5596G>A (p.Asp1866Asn) c.5191G>A (p.Asp1731Asn) c.4549G>A (p.Asp1517Asn) c.2059G>A (p.Asp687Asn) n.5974G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71784924G>C | CA377146451 | CDH23 | c.5536G>C (p.Asp1846His) c.5551G>C (p.Asp1851His) c.5731G>C (p.Asp1911His) c.5665G>C (p.Asp1889His) c.5728G>C (p.Asp1910His) c.5725G>C (p.Asp1909His) c.5671G>C (p.Asp1891His) c.5596G>C (p.Asp1866His) c.5191G>C (p.Asp1731His) c.4549G>C (p.Asp1517His) c.2059G>C (p.Asp687His) n.5974G>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71784924G= | CA1918862148 | CDH23 | c.5536G= (p.Asp1846=) c.5551G= (p.Asp1851=) c.5731G= (p.Asp1911=) c.5665G= (p.Asp1889=) c.5728G= (p.Asp1910=) c.5725G= (p.Asp1909=) c.5671G= (p.Asp1891=) c.5596G= (p.Asp1866=) c.5191G= (p.Asp1731=) c.4549G= (p.Asp1517=) c.2059G= (p.Asp687=) n.5974G= | |
10 | g.71784924G>T | CA377146465 | CDH23 | c.5536G>T (p.Asp1846Tyr) c.5551G>T (p.Asp1851Tyr) c.5731G>T (p.Asp1911Tyr) c.5665G>T (p.Asp1889Tyr) c.5728G>T (p.Asp1910Tyr) c.5725G>T (p.Asp1909Tyr) c.5671G>T (p.Asp1891Tyr) c.5596G>T (p.Asp1866Tyr) c.5191G>T (p.Asp1731Tyr) c.4549G>T (p.Asp1517Tyr) c.2059G>T (p.Asp687Tyr) n.5974G>T | |
10 | g.71784925A>C | CA377146467 | CDH23 | c.5537A>C (p.Asp1846Ala) c.5552A>C (p.Asp1851Ala) c.5732A>C (p.Asp1911Ala) c.5666A>C (p.Asp1889Ala) c.5729A>C (p.Asp1910Ala) c.5726A>C (p.Asp1909Ala) c.5672A>C (p.Asp1891Ala) c.5597A>C (p.Asp1866Ala) c.5192A>C (p.Asp1731Ala) c.4550A>C (p.Asp1517Ala) c.2060A>C (p.Asp687Ala) n.5975A>C | |
10 | g.71784925A>G | CA377146471 | CDH23 | c.5537A>G (p.Asp1846Gly) c.5552A>G (p.Asp1851Gly) c.5732A>G (p.Asp1911Gly) c.5666A>G (p.Asp1889Gly) c.5729A>G (p.Asp1910Gly) c.5726A>G (p.Asp1909Gly) c.5672A>G (p.Asp1891Gly) c.5597A>G (p.Asp1866Gly) c.5192A>G (p.Asp1731Gly) c.4550A>G (p.Asp1517Gly) c.2060A>G (p.Asp687Gly) n.5975A>G | |
10 | g.71784925A>T | CA377146473 | CDH23 | c.5537A>T (p.Asp1846Val) c.5552A>T (p.Asp1851Val) c.5732A>T (p.Asp1911Val) c.5666A>T (p.Asp1889Val) c.5729A>T (p.Asp1910Val) c.5726A>T (p.Asp1909Val) c.5672A>T (p.Asp1891Val) c.5597A>T (p.Asp1866Val) c.5192A>T (p.Asp1731Val) c.4550A>T (p.Asp1517Val) c.2060A>T (p.Asp687Val) n.5975A>T | |
10 | g.71784926C>A | CA377146474 | CDH23 | c.5538C>A (p.Asp1846Glu) c.5553C>A (p.Asp1851Glu) c.5733C>A (p.Asp1911Glu) c.5667C>A (p.Asp1889Glu) c.5730C>A (p.Asp1910Glu) c.5727C>A (p.Asp1909Glu) c.5673C>A (p.Asp1891Glu) c.5598C>A (p.Asp1866Glu) c.5193C>A (p.Asp1731Glu) c.4551C>A (p.Asp1517Glu) c.2061C>A (p.Asp687Glu) n.5976C>A | gnomAD v4 |
10 | g.71784926C= | CA1918862153 | CDH23 | c.5538C= (p.Asp1846=) c.5553C= (p.Asp1851=) c.5733C= (p.Asp1911=) c.5667C= (p.Asp1889=) c.5730C= (p.Asp1910=) c.5727C= (p.Asp1909=) c.5673C= (p.Asp1891=) c.5598C= (p.Asp1866=) c.5193C= (p.Asp1731=) c.4551C= (p.Asp1517=) c.2061C= (p.Asp687=) n.5976C= | |
10 | g.71784926C>G | CA377146478 | CDH23 | c.5538C>G (p.Asp1846Glu) c.5553C>G (p.Asp1851Glu) c.5733C>G (p.Asp1911Glu) c.5667C>G (p.Asp1889Glu) c.5730C>G (p.Asp1910Glu) c.5727C>G (p.Asp1909Glu) c.5673C>G (p.Asp1891Glu) c.5598C>G (p.Asp1866Glu) c.5193C>G (p.Asp1731Glu) c.4551C>G (p.Asp1517Glu) c.2061C>G (p.Asp687Glu) n.5976C>G | |
10 | g.71784926C>T | CA470060703 | CDH23 | c.5538C>T (p.Asp1846=) c.5553C>T (p.Asp1851=) c.5733C>T (p.Asp1911=) c.5667C>T (p.Asp1889=) c.5730C>T (p.Asp1910=) c.5727C>T (p.Asp1909=) c.5673C>T (p.Asp1891=) c.5598C>T (p.Asp1866=) c.5193C>T (p.Asp1731=) c.4551C>T (p.Asp1517=) c.2061C>T (p.Asp687=) n.5976C>T | dbSNP |
10 | g.71784927A>C | CA377146481 | CDH23 | c.5539A>C (p.Asn1847His) c.5554A>C (p.Asn1852His) c.5734A>C (p.Asn1912His) c.5668A>C (p.Asn1890His) c.5731A>C (p.Asn1911His) c.5728A>C (p.Asn1910His) c.5674A>C (p.Asn1892His) c.5599A>C (p.Asn1867His) c.5194A>C (p.Asn1732His) c.4552A>C (p.Asn1518His) c.2062A>C (p.Asn688His) n.5977A>C | dbSNP |
10 | g.71784927A>G | CA377146484 | CDH23 | c.5539A>G (p.Asn1847Asp) c.5554A>G (p.Asn1852Asp) c.5734A>G (p.Asn1912Asp) c.5668A>G (p.Asn1890Asp) c.5731A>G (p.Asn1911Asp) c.5728A>G (p.Asn1910Asp) c.5674A>G (p.Asn1892Asp) c.5599A>G (p.Asn1867Asp) c.5194A>G (p.Asn1732Asp) c.4552A>G (p.Asn1518Asp) c.2062A>G (p.Asn688Asp) n.5977A>G | dbSNP |
10 | g.71784927A>T | CA377146487 | CDH23 | c.5539A>T (p.Asn1847Tyr) c.5554A>T (p.Asn1852Tyr) c.5734A>T (p.Asn1912Tyr) c.5668A>T (p.Asn1890Tyr) c.5731A>T (p.Asn1911Tyr) c.5728A>T (p.Asn1910Tyr) c.5674A>T (p.Asn1892Tyr) c.5599A>T (p.Asn1867Tyr) c.5194A>T (p.Asn1732Tyr) c.4552A>T (p.Asn1518Tyr) c.2062A>T (p.Asn688Tyr) n.5977A>T | dbSNP |
10 | g.71784928A>C | CA377146492 | CDH23 | c.5540A>C (p.Asn1847Thr) c.5555A>C (p.Asn1852Thr) c.5735A>C (p.Asn1912Thr) c.5669A>C (p.Asn1890Thr) c.5732A>C (p.Asn1911Thr) c.5729A>C (p.Asn1910Thr) c.5675A>C (p.Asn1892Thr) c.5600A>C (p.Asn1867Thr) c.5195A>C (p.Asn1732Thr) c.4553A>C (p.Asn1518Thr) c.2063A>C (p.Asn688Thr) n.5978A>C | |
10 | g.71784928A>G | CA377146499 | CDH23 | c.5540A>G (p.Asn1847Ser) c.5555A>G (p.Asn1852Ser) c.5735A>G (p.Asn1912Ser) c.5669A>G (p.Asn1890Ser) c.5732A>G (p.Asn1911Ser) c.5729A>G (p.Asn1910Ser) c.5675A>G (p.Asn1892Ser) c.5600A>G (p.Asn1867Ser) c.5195A>G (p.Asn1732Ser) c.4553A>G (p.Asn1518Ser) c.2063A>G (p.Asn688Ser) n.5978A>G | |
10 | g.71784928A>T | CA377146490 | CDH23 | c.5540A>T (p.Asn1847Ile) c.5555A>T (p.Asn1852Ile) c.5735A>T (p.Asn1912Ile) c.5669A>T (p.Asn1890Ile) c.5732A>T (p.Asn1911Ile) c.5729A>T (p.Asn1910Ile) c.5675A>T (p.Asn1892Ile) c.5600A>T (p.Asn1867Ile) c.5195A>T (p.Asn1732Ile) c.4553A>T (p.Asn1518Ile) c.2063A>T (p.Asn688Ile) n.5978A>T | |
10 | g.71784929C>A | CA377146513 | CDH23 | c.5541C>A (p.Asn1847Lys) c.5556C>A (p.Asn1852Lys) c.5736C>A (p.Asn1912Lys) c.5670C>A (p.Asn1890Lys) c.5733C>A (p.Asn1911Lys) c.5730C>A (p.Asn1910Lys) c.5676C>A (p.Asn1892Lys) c.5601C>A (p.Asn1867Lys) c.5196C>A (p.Asn1732Lys) c.4554C>A (p.Asn1518Lys) c.2064C>A (p.Asn688Lys) n.5979C>A | |
10 | g.71784929C= | CA1918862157 | CDH23 | c.5541C= (p.Asn1847=) c.5556C= (p.Asn1852=) c.5736C= (p.Asn1912=) c.5670C= (p.Asn1890=) c.5733C= (p.Asn1911=) c.5730C= (p.Asn1910=) c.5676C= (p.Asn1892=) c.5601C= (p.Asn1867=) c.5196C= (p.Asn1732=) c.4554C= (p.Asn1518=) c.2064C= (p.Asn688=) n.5979C= | |
10 | g.71784929C>G | CA377146502 | CDH23 | c.5541C>G (p.Asn1847Lys) c.5556C>G (p.Asn1852Lys) c.5736C>G (p.Asn1912Lys) c.5670C>G (p.Asn1890Lys) c.5733C>G (p.Asn1911Lys) c.5730C>G (p.Asn1910Lys) c.5676C>G (p.Asn1892Lys) c.5601C>G (p.Asn1867Lys) c.5196C>G (p.Asn1732Lys) c.4554C>G (p.Asn1518Lys) c.2064C>G (p.Asn688Lys) n.5979C>G | |
10 | g.71784929C>T | CA137498 | CDH23 | c.5541C>T (p.Asn1847=) c.5556C>T (p.Asn1852=) c.5736C>T (p.Asn1912=) c.5670C>T (p.Asn1890=) c.5733C>T (p.Asn1911=) c.5730C>T (p.Asn1910=) c.5676C>T (p.Asn1892=) c.5601C>T (p.Asn1867=) c.5196C>T (p.Asn1732=) c.4554C>T (p.Asn1518=) c.2064C>T (p.Asn688=) n.5979C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71784930G>A | CA5545808 | CDH23 | c.5542G>A (p.Asp1848Asn) c.5557G>A (p.Asp1853Asn) c.5737G>A (p.Asp1913Asn) c.5671G>A (p.Asp1891Asn) c.5734G>A (p.Asp1912Asn) c.5731G>A (p.Asp1911Asn) c.5677G>A (p.Asp1893Asn) c.5602G>A (p.Asp1868Asn) c.5197G>A (p.Asp1733Asn) c.4555G>A (p.Asp1519Asn) c.2065G>A (p.Asp689Asn) n.5980G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71784930G>C | CA377146519 | CDH23 | c.5542G>C (p.Asp1848His) c.5557G>C (p.Asp1853His) c.5737G>C (p.Asp1913His) c.5671G>C (p.Asp1891His) c.5734G>C (p.Asp1912His) c.5731G>C (p.Asp1911His) c.5677G>C (p.Asp1893His) c.5602G>C (p.Asp1868His) c.5197G>C (p.Asp1733His) c.4555G>C (p.Asp1519His) c.2065G>C (p.Asp689His) n.5980G>C | gnomAD v4 |
10 | g.71784930G= | CA1918862166 | CDH23 | c.5542G= (p.Asp1848=) c.5557G= (p.Asp1853=) c.5737G= (p.Asp1913=) c.5671G= (p.Asp1891=) c.5734G= (p.Asp1912=) c.5731G= (p.Asp1911=) c.5677G= (p.Asp1893=) c.5602G= (p.Asp1868=) c.5197G= (p.Asp1733=) c.4555G= (p.Asp1519=) c.2065G= (p.Asp689=) n.5980G= | |
10 | g.71784930G>T | CA377146522 | CDH23 | c.5542G>T (p.Asp1848Tyr) c.5557G>T (p.Asp1853Tyr) c.5737G>T (p.Asp1913Tyr) c.5671G>T (p.Asp1891Tyr) c.5734G>T (p.Asp1912Tyr) c.5731G>T (p.Asp1911Tyr) c.5677G>T (p.Asp1893Tyr) c.5602G>T (p.Asp1868Tyr) c.5197G>T (p.Asp1733Tyr) c.4555G>T (p.Asp1519Tyr) c.2065G>T (p.Asp689Tyr) n.5980G>T | gnomAD v4 |
10 | g.71784931A>C | CA377146533 | CDH23 | c.5543A>C (p.Asp1848Ala) c.5558A>C (p.Asp1853Ala) c.5738A>C (p.Asp1913Ala) c.5672A>C (p.Asp1891Ala) c.5735A>C (p.Asp1912Ala) c.5732A>C (p.Asp1911Ala) c.5678A>C (p.Asp1893Ala) c.5603A>C (p.Asp1868Ala) c.5198A>C (p.Asp1733Ala) c.4556A>C (p.Asp1519Ala) c.2066A>C (p.Asp689Ala) n.5981A>C | |
10 | g.71784931A>G | CA377146531 | CDH23 | c.5543A>G (p.Asp1848Gly) c.5558A>G (p.Asp1853Gly) c.5738A>G (p.Asp1913Gly) c.5672A>G (p.Asp1891Gly) c.5735A>G (p.Asp1912Gly) c.5732A>G (p.Asp1911Gly) c.5678A>G (p.Asp1893Gly) c.5603A>G (p.Asp1868Gly) c.5198A>G (p.Asp1733Gly) c.4556A>G (p.Asp1519Gly) c.2066A>G (p.Asp689Gly) n.5981A>G | dbSNP |
10 | g.71784931A>T | CA377146525 | CDH23 | c.5543A>T (p.Asp1848Val) c.5558A>T (p.Asp1853Val) c.5738A>T (p.Asp1913Val) c.5672A>T (p.Asp1891Val) c.5735A>T (p.Asp1912Val) c.5732A>T (p.Asp1911Val) c.5678A>T (p.Asp1893Val) c.5603A>T (p.Asp1868Val) c.5198A>T (p.Asp1733Val) c.4556A>T (p.Asp1519Val) c.2066A>T (p.Asp689Val) n.5981A>T | |
10 | g.71784932C>A | CA377146534 | CDH23 | c.5544C>A (p.Asp1848Glu) c.5559C>A (p.Asp1853Glu) c.5739C>A (p.Asp1913Glu) c.5673C>A (p.Asp1891Glu) c.5736C>A (p.Asp1912Glu) c.5733C>A (p.Asp1911Glu) c.5679C>A (p.Asp1893Glu) c.5604C>A (p.Asp1868Glu) c.5199C>A (p.Asp1733Glu) c.4557C>A (p.Asp1519Glu) c.2067C>A (p.Asp689Glu) n.5982C>A | gnomAD v4 |
10 | g.71784932C= | CA1918862174 | CDH23 | c.5544C= (p.Asp1848=) c.5559C= (p.Asp1853=) c.5739C= (p.Asp1913=) c.5673C= (p.Asp1891=) c.5736C= (p.Asp1912=) c.5733C= (p.Asp1911=) c.5679C= (p.Asp1893=) c.5604C= (p.Asp1868=) c.5199C= (p.Asp1733=) c.4557C= (p.Asp1519=) c.2067C= (p.Asp689=) n.5982C= | |
10 | g.71784932C>G | CA377146536 | CDH23 | c.5544C>G (p.Asp1848Glu) c.5559C>G (p.Asp1853Glu) c.5739C>G (p.Asp1913Glu) c.5673C>G (p.Asp1891Glu) c.5736C>G (p.Asp1912Glu) c.5733C>G (p.Asp1911Glu) c.5679C>G (p.Asp1893Glu) c.5604C>G (p.Asp1868Glu) c.5199C>G (p.Asp1733Glu) c.4557C>G (p.Asp1519Glu) c.2067C>G (p.Asp689Glu) n.5982C>G | |
10 | g.71784932C>T | CA137500 | CDH23 | c.5544C>T (p.Asp1848=) c.5559C>T (p.Asp1853=) c.5739C>T (p.Asp1913=) c.5673C>T (p.Asp1891=) c.5736C>T (p.Asp1912=) c.5733C>T (p.Asp1911=) c.5679C>T (p.Asp1893=) c.5604C>T (p.Asp1868=) c.5199C>T (p.Asp1733=) c.4557C>T (p.Asp1519=) c.2067C>T (p.Asp689=) n.5982C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71784934del | CA2695212109 | CDH23 | c.5546del (p.Pro1849LeufsTer4) c.5561del (p.Pro1854LeufsTer4) c.5741del (p.Pro1914LeufsTer4) c.5675del (p.Pro1892LeufsTer4) c.5738del (p.Pro1913LeufsTer4) c.5735del (p.Pro1912LeufsTer4) c.5681del (p.Pro1894LeufsTer4) c.5606del (p.Pro1869LeufsTer4) c.5201del (p.Pro1734LeufsTer4) c.4559del (p.Pro1520LeufsTer4) c.2069del (p.Pro690LeufsTer4) n.5984del | |
10 | g.71784933C>A | CA377146538 | CDH23 | c.5545C>A (p.Pro1849Thr) c.5560C>A (p.Pro1854Thr) c.5740C>A (p.Pro1914Thr) c.5674C>A (p.Pro1892Thr) c.5737C>A (p.Pro1913Thr) c.5734C>A (p.Pro1912Thr) c.5680C>A (p.Pro1894Thr) c.5605C>A (p.Pro1869Thr) c.5200C>A (p.Pro1734Thr) c.4558C>A (p.Pro1520Thr) c.2068C>A (p.Pro690Thr) n.5983C>A | |
10 | g.71784933C>G | CA377146539 | CDH23 | c.5545C>G (p.Pro1849Ala) c.5560C>G (p.Pro1854Ala) c.5740C>G (p.Pro1914Ala) c.5674C>G (p.Pro1892Ala) c.5737C>G (p.Pro1913Ala) c.5734C>G (p.Pro1912Ala) c.5680C>G (p.Pro1894Ala) c.5605C>G (p.Pro1869Ala) c.5200C>G (p.Pro1734Ala) c.4558C>G (p.Pro1520Ala) c.2068C>G (p.Pro690Ala) n.5983C>G | gnomAD v4 |
10 | g.71784933C>T | CA377146541 | CDH23 | c.5545C>T (p.Pro1849Ser) c.5560C>T (p.Pro1854Ser) c.5740C>T (p.Pro1914Ser) c.5674C>T (p.Pro1892Ser) c.5737C>T (p.Pro1913Ser) c.5734C>T (p.Pro1912Ser) c.5680C>T (p.Pro1894Ser) c.5605C>T (p.Pro1869Ser) c.5200C>T (p.Pro1734Ser) c.4558C>T (p.Pro1520Ser) c.2068C>T (p.Pro690Ser) n.5983C>T | COSMIC |
10 | g.71784934C>A | CA377146542 | CDH23 | c.5546C>A (p.Pro1849His) c.5561C>A (p.Pro1854His) c.5741C>A (p.Pro1914His) c.5675C>A (p.Pro1892His) c.5738C>A (p.Pro1913His) c.5735C>A (p.Pro1912His) c.5681C>A (p.Pro1894His) c.5606C>A (p.Pro1869His) c.5201C>A (p.Pro1734His) c.4559C>A (p.Pro1520His) c.2069C>A (p.Pro690His) n.5984C>A | gnomAD v4 |
10 | g.71784934C>G | CA377146549 | CDH23 | c.5546C>G (p.Pro1849Arg) c.5561C>G (p.Pro1854Arg) c.5741C>G (p.Pro1914Arg) c.5675C>G (p.Pro1892Arg) c.5738C>G (p.Pro1913Arg) c.5735C>G (p.Pro1912Arg) c.5681C>G (p.Pro1894Arg) c.5606C>G (p.Pro1869Arg) c.5201C>G (p.Pro1734Arg) c.4559C>G (p.Pro1520Arg) c.2069C>G (p.Pro690Arg) n.5984C>G | |
10 | g.71784934C>T | CA377146548 | CDH23 | c.5546C>T (p.Pro1849Leu) c.5561C>T (p.Pro1854Leu) c.5741C>T (p.Pro1914Leu) c.5675C>T (p.Pro1892Leu) c.5738C>T (p.Pro1913Leu) c.5735C>T (p.Pro1912Leu) c.5681C>T (p.Pro1894Leu) c.5606C>T (p.Pro1869Leu) c.5201C>T (p.Pro1734Leu) c.4559C>T (p.Pro1520Leu) c.2069C>T (p.Pro690Leu) n.5984C>T | |
10 | g.71784935T>A | CA470060704 | CDH23 | c.5547T>A (p.Pro1849=) c.5562T>A (p.Pro1854=) c.5742T>A (p.Pro1914=) c.5676T>A (p.Pro1892=) c.5739T>A (p.Pro1913=) c.5736T>A (p.Pro1912=) c.5682T>A (p.Pro1894=) c.5607T>A (p.Pro1869=) c.5202T>A (p.Pro1734=) c.4560T>A (p.Pro1520=) c.2070T>A (p.Pro690=) n.5985T>A | dbSNP |
10 | g.71784935T>C | CA470060705 | CDH23 | c.5547T>C (p.Pro1849=) c.5562T>C (p.Pro1854=) c.5742T>C (p.Pro1914=) c.5676T>C (p.Pro1892=) c.5739T>C (p.Pro1913=) c.5736T>C (p.Pro1912=) c.5682T>C (p.Pro1894=) c.5607T>C (p.Pro1869=) c.5202T>C (p.Pro1734=) c.4560T>C (p.Pro1520=) c.2070T>C (p.Pro690=) n.5985T>C | |
10 | g.71784935T>G | CA470060706 | CDH23 | c.5547T>G (p.Pro1849=) c.5562T>G (p.Pro1854=) c.5742T>G (p.Pro1914=) c.5676T>G (p.Pro1892=) c.5739T>G (p.Pro1913=) c.5736T>G (p.Pro1912=) c.5682T>G (p.Pro1894=) c.5607T>G (p.Pro1869=) c.5202T>G (p.Pro1734=) c.4560T>G (p.Pro1520=) c.2070T>G (p.Pro690=) n.5985T>G | |
10 | g.71784935T= | CA1918862180 | CDH23 | c.5547T= (p.Pro1849=) c.5562T= (p.Pro1854=) c.5742T= (p.Pro1914=) c.5676T= (p.Pro1892=) c.5739T= (p.Pro1913=) c.5736T= (p.Pro1912=) c.5682T= (p.Pro1894=) c.5607T= (p.Pro1869=) c.5202T= (p.Pro1734=) c.4560T= (p.Pro1520=) c.2070T= (p.Pro690=) n.5985T= | |
10 | g.71784936G>A | CA377146551 | CDH23 | c.5548G>A (p.Val1850Met) c.5563G>A (p.Val1855Met) c.5743G>A (p.Val1915Met) c.5677G>A (p.Val1893Met) c.5740G>A (p.Val1914Met) c.5737G>A (p.Val1913Met) c.5683G>A (p.Val1895Met) c.5608G>A (p.Val1870Met) c.5203G>A (p.Val1735Met) c.4561G>A (p.Val1521Met) c.2071G>A (p.Val691Met) n.5986G>A | |
10 | g.71784936G>C | CA377146552 | CDH23 | c.5548G>C (p.Val1850Leu) c.5563G>C (p.Val1855Leu) c.5743G>C (p.Val1915Leu) c.5677G>C (p.Val1893Leu) c.5740G>C (p.Val1914Leu) c.5737G>C (p.Val1913Leu) c.5683G>C (p.Val1895Leu) c.5608G>C (p.Val1870Leu) c.5203G>C (p.Val1735Leu) c.4561G>C (p.Val1521Leu) c.2071G>C (p.Val691Leu) n.5986G>C | gnomAD v4 |
10 | g.71784936G>T | CA377146554 | CDH23 | c.5548G>T (p.Val1850Leu) c.5563G>T (p.Val1855Leu) c.5743G>T (p.Val1915Leu) c.5677G>T (p.Val1893Leu) c.5740G>T (p.Val1914Leu) c.5737G>T (p.Val1913Leu) c.5683G>T (p.Val1895Leu) c.5608G>T (p.Val1870Leu) c.5203G>T (p.Val1735Leu) c.4561G>T (p.Val1521Leu) c.2071G>T (p.Val691Leu) n.5986G>T | |
10 | g.71784937T>A | CA377146555 | CDH23 | c.5549T>A (p.Val1850Glu) c.5564T>A (p.Val1855Glu) c.5744T>A (p.Val1915Glu) c.5678T>A (p.Val1893Glu) c.5741T>A (p.Val1914Glu) c.5738T>A (p.Val1913Glu) c.5684T>A (p.Val1895Glu) c.5609T>A (p.Val1870Glu) c.5204T>A (p.Val1735Glu) c.4562T>A (p.Val1521Glu) c.2072T>A (p.Val691Glu) n.5987T>A | |
10 | g.71784937T>C | CA377146557 | CDH23 | c.5549T>C (p.Val1850Ala) c.5564T>C (p.Val1855Ala) c.5744T>C (p.Val1915Ala) c.5678T>C (p.Val1893Ala) c.5741T>C (p.Val1914Ala) c.5738T>C (p.Val1913Ala) c.5684T>C (p.Val1895Ala) c.5609T>C (p.Val1870Ala) c.5204T>C (p.Val1735Ala) c.4562T>C (p.Val1521Ala) c.2072T>C (p.Val691Ala) n.5987T>C | |
10 | g.71784937T>G | CA377146559 | CDH23 | c.5549T>G (p.Val1850Gly) c.5564T>G (p.Val1855Gly) c.5744T>G (p.Val1915Gly) c.5678T>G (p.Val1893Gly) c.5741T>G (p.Val1914Gly) c.5738T>G (p.Val1913Gly) c.5684T>G (p.Val1895Gly) c.5609T>G (p.Val1870Gly) c.5204T>G (p.Val1735Gly) c.4562T>G (p.Val1521Gly) c.2072T>G (p.Val691Gly) n.5987T>G | |
10 | g.71784938G>A | CA470060707 | CDH23 | c.5550G>A (p.Val1850=) c.5565G>A (p.Val1855=) c.5745G>A (p.Val1915=) c.5679G>A (p.Val1893=) c.5742G>A (p.Val1914=) c.5739G>A (p.Val1913=) c.5685G>A (p.Val1895=) c.5610G>A (p.Val1870=) c.5205G>A (p.Val1735=) c.4563G>A (p.Val1521=) c.2073G>A (p.Val691=) n.5988G>A | |
10 | g.71784938G>C | CA470060708 | CDH23 | c.5550G>C (p.Val1850=) c.5565G>C (p.Val1855=) c.5745G>C (p.Val1915=) c.5679G>C (p.Val1893=) c.5742G>C (p.Val1914=) c.5739G>C (p.Val1913=) c.5685G>C (p.Val1895=) c.5610G>C (p.Val1870=) c.5205G>C (p.Val1735=) c.4563G>C (p.Val1521=) c.2073G>C (p.Val691=) n.5988G>C | |
10 | g.71784938G>T | CA470060709 | CDH23 | c.5550G>T (p.Val1850=) c.5565G>T (p.Val1855=) c.5745G>T (p.Val1915=) c.5679G>T (p.Val1893=) c.5742G>T (p.Val1914=) c.5739G>T (p.Val1913=) c.5685G>T (p.Val1895=) c.5610G>T (p.Val1870=) c.5205G>T (p.Val1735=) c.4563G>T (p.Val1521=) c.2073G>T (p.Val691=) n.5988G>T | gnomAD v4 |
10 | g.71784939C>A | CA377146560 | CDH23 | c.5551C>A (p.Leu1851Met) c.5566C>A (p.Leu1856Met) c.5746C>A (p.Leu1916Met) c.5680C>A (p.Leu1894Met) c.5743C>A (p.Leu1915Met) c.5740C>A (p.Leu1914Met) c.5686C>A (p.Leu1896Met) c.5611C>A (p.Leu1871Met) c.5206C>A (p.Leu1736Met) c.4564C>A (p.Leu1522Met) c.2074C>A (p.Leu692Met) n.5989C>A | |
10 | g.71784939C= | CA1918862184 | CDH23 | c.5551C= (p.Leu1851=) c.5566C= (p.Leu1856=) c.5746C= (p.Leu1916=) c.5680C= (p.Leu1894=) c.5743C= (p.Leu1915=) c.5740C= (p.Leu1914=) c.5686C= (p.Leu1896=) c.5611C= (p.Leu1871=) c.5206C= (p.Leu1736=) c.4564C= (p.Leu1522=) c.2074C= (p.Leu692=) n.5989C= | |
10 | g.71784939C>G | CA377146562 | CDH23 | c.5551C>G (p.Leu1851Val) c.5566C>G (p.Leu1856Val) c.5746C>G (p.Leu1916Val) c.5680C>G (p.Leu1894Val) c.5743C>G (p.Leu1915Val) c.5740C>G (p.Leu1914Val) c.5686C>G (p.Leu1896Val) c.5611C>G (p.Leu1871Val) c.5206C>G (p.Leu1736Val) c.4564C>G (p.Leu1522Val) c.2074C>G (p.Leu692Val) n.5989C>G | |
10 | g.71784939C>T | CA470060710 | CDH23 | c.5551C>T (p.Leu1851=) c.5566C>T (p.Leu1856=) c.5746C>T (p.Leu1916=) c.5680C>T (p.Leu1894=) c.5743C>T (p.Leu1915=) c.5740C>T (p.Leu1914=) c.5686C>T (p.Leu1896=) c.5611C>T (p.Leu1871=) c.5206C>T (p.Leu1736=) c.4564C>T (p.Leu1522=) c.2074C>T (p.Leu692=) n.5989C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71784940T>A | CA377146563 | CDH23 | c.5552T>A (p.Leu1851Gln) c.5567T>A (p.Leu1856Gln) c.5747T>A (p.Leu1916Gln) c.5681T>A (p.Leu1894Gln) c.5744T>A (p.Leu1915Gln) c.5741T>A (p.Leu1914Gln) c.5687T>A (p.Leu1896Gln) c.5612T>A (p.Leu1871Gln) c.5207T>A (p.Leu1736Gln) c.4565T>A (p.Leu1522Gln) c.2075T>A (p.Leu692Gln) n.5990T>A | |
10 | g.71784940T>C | CA377146564 | CDH23 | c.5552T>C (p.Leu1851Pro) c.5567T>C (p.Leu1856Pro) c.5747T>C (p.Leu1916Pro) c.5681T>C (p.Leu1894Pro) c.5744T>C (p.Leu1915Pro) c.5741T>C (p.Leu1914Pro) c.5687T>C (p.Leu1896Pro) c.5612T>C (p.Leu1871Pro) c.5207T>C (p.Leu1736Pro) c.4565T>C (p.Leu1522Pro) c.2075T>C (p.Leu692Pro) n.5990T>C | |
10 | g.71784940T>G | CA377146565 | CDH23 | c.5552T>G (p.Leu1851Arg) c.5567T>G (p.Leu1856Arg) c.5747T>G (p.Leu1916Arg) c.5681T>G (p.Leu1894Arg) c.5744T>G (p.Leu1915Arg) c.5741T>G (p.Leu1914Arg) c.5687T>G (p.Leu1896Arg) c.5612T>G (p.Leu1871Arg) c.5207T>G (p.Leu1736Arg) c.4565T>G (p.Leu1522Arg) c.2075T>G (p.Leu692Arg) n.5990T>G | |
10 | g.71784941G>A | CA470060711 | CDH23 | c.5553G>A (p.Leu1851=) c.5568G>A (p.Leu1856=) c.5748G>A (p.Leu1916=) c.5682G>A (p.Leu1894=) c.5745G>A (p.Leu1915=) c.5742G>A (p.Leu1914=) c.5688G>A (p.Leu1896=) c.5613G>A (p.Leu1871=) c.5208G>A (p.Leu1736=) c.4566G>A (p.Leu1522=) c.2076G>A (p.Leu692=) n.5991G>A | dbSNP gnomAD v4 |
10 | g.71784941G>C | CA470060712 | CDH23 | c.5553G>C (p.Leu1851=) c.5568G>C (p.Leu1856=) c.5748G>C (p.Leu1916=) c.5682G>C (p.Leu1894=) c.5745G>C (p.Leu1915=) c.5742G>C (p.Leu1914=) c.5688G>C (p.Leu1896=) c.5613G>C (p.Leu1871=) c.5208G>C (p.Leu1736=) c.4566G>C (p.Leu1522=) c.2076G>C (p.Leu692=) n.5991G>C | |
10 | g.71784941G= | CA1918862189 | CDH23 | c.5553G= (p.Leu1851=) c.5568G= (p.Leu1856=) c.5748G= (p.Leu1916=) c.5682G= (p.Leu1894=) c.5745G= (p.Leu1915=) c.5742G= (p.Leu1914=) c.5688G= (p.Leu1896=) c.5613G= (p.Leu1871=) c.5208G= (p.Leu1736=) c.4566G= (p.Leu1522=) c.2076G= (p.Leu692=) n.5991G= | |
10 | g.71784941G>T | CA470060713 | CDH23 | c.5553G>T (p.Leu1851=) c.5568G>T (p.Leu1856=) c.5748G>T (p.Leu1916=) c.5682G>T (p.Leu1894=) c.5745G>T (p.Leu1915=) c.5742G>T (p.Leu1914=) c.5688G>T (p.Leu1896=) c.5613G>T (p.Leu1871=) c.5208G>T (p.Leu1736=) c.4566G>T (p.Leu1522=) c.2076G>T (p.Leu692=) n.5991G>T | dbSNP |
10 | g.71784942C>A | CA377146567 | CDH23 | c.5554C>A (p.Leu1852Met) c.5569C>A (p.Leu1857Met) c.5749C>A (p.Leu1917Met) c.5683C>A (p.Leu1895Met) c.5746C>A (p.Leu1916Met) c.5743C>A (p.Leu1915Met) c.5689C>A (p.Leu1897Met) c.5614C>A (p.Leu1872Met) c.5209C>A (p.Leu1737Met) c.4567C>A (p.Leu1523Met) c.2077C>A (p.Leu693Met) n.5992C>A | |
10 | g.71784942C>G | CA377146568 | CDH23 | c.5554C>G (p.Leu1852Val) c.5569C>G (p.Leu1857Val) c.5749C>G (p.Leu1917Val) c.5683C>G (p.Leu1895Val) c.5746C>G (p.Leu1916Val) c.5743C>G (p.Leu1915Val) c.5689C>G (p.Leu1897Val) c.5614C>G (p.Leu1872Val) c.5209C>G (p.Leu1737Val) c.4567C>G (p.Leu1523Val) c.2077C>G (p.Leu693Val) n.5992C>G | |
10 | g.71784942C>T | CA470060714 | CDH23 | c.5554C>T (p.Leu1852=) c.5569C>T (p.Leu1857=) c.5749C>T (p.Leu1917=) c.5683C>T (p.Leu1895=) c.5746C>T (p.Leu1916=) c.5743C>T (p.Leu1915=) c.5689C>T (p.Leu1897=) c.5614C>T (p.Leu1872=) c.5209C>T (p.Leu1737=) c.4567C>T (p.Leu1523=) c.2077C>T (p.Leu693=) n.5992C>T | |
10 | g.71784943T>A | CA377146569 | CDH23 | c.5555T>A (p.Leu1852Gln) c.5570T>A (p.Leu1857Gln) c.5750T>A (p.Leu1917Gln) c.5684T>A (p.Leu1895Gln) c.5747T>A (p.Leu1916Gln) c.5744T>A (p.Leu1915Gln) c.5690T>A (p.Leu1897Gln) c.5615T>A (p.Leu1872Gln) c.5210T>A (p.Leu1737Gln) c.4568T>A (p.Leu1523Gln) c.2078T>A (p.Leu693Gln) n.5993T>A | |
10 | g.71784943T>C | CA377146570 | CDH23 | c.5555T>C (p.Leu1852Pro) c.5570T>C (p.Leu1857Pro) c.5750T>C (p.Leu1917Pro) c.5684T>C (p.Leu1895Pro) c.5747T>C (p.Leu1916Pro) c.5744T>C (p.Leu1915Pro) c.5690T>C (p.Leu1897Pro) c.5615T>C (p.Leu1872Pro) c.5210T>C (p.Leu1737Pro) c.4568T>C (p.Leu1523Pro) c.2078T>C (p.Leu693Pro) n.5993T>C | |
10 | g.71784943T>G | CA377146571 | CDH23 | c.5555T>G (p.Leu1852Arg) c.5570T>G (p.Leu1857Arg) c.5750T>G (p.Leu1917Arg) c.5684T>G (p.Leu1895Arg) c.5747T>G (p.Leu1916Arg) c.5744T>G (p.Leu1915Arg) c.5690T>G (p.Leu1897Arg) c.5615T>G (p.Leu1872Arg) c.5210T>G (p.Leu1737Arg) c.4568T>G (p.Leu1523Arg) c.2078T>G (p.Leu693Arg) n.5993T>G | |
10 | g.71784944G>A | CA470060715 | CDH23 | c.5556G>A (p.Leu1852=) c.5571G>A (p.Leu1857=) c.5751G>A (p.Leu1917=) c.5685G>A (p.Leu1895=) c.5748G>A (p.Leu1916=) c.5745G>A (p.Leu1915=) c.5691G>A (p.Leu1897=) c.5616G>A (p.Leu1872=) c.5211G>A (p.Leu1737=) c.4569G>A (p.Leu1523=) c.2079G>A (p.Leu693=) n.5994G>A | |
10 | g.71784944G>C | CA470060716 | CDH23 | c.5556G>C (p.Leu1852=) c.5571G>C (p.Leu1857=) c.5751G>C (p.Leu1917=) c.5685G>C (p.Leu1895=) c.5748G>C (p.Leu1916=) c.5745G>C (p.Leu1915=) c.5691G>C (p.Leu1897=) c.5616G>C (p.Leu1872=) c.5211G>C (p.Leu1737=) c.4569G>C (p.Leu1523=) c.2079G>C (p.Leu693=) n.5994G>C | |
10 | g.71784944G>T | CA470060717 | CDH23 | c.5556G>T (p.Leu1852=) c.5571G>T (p.Leu1857=) c.5751G>T (p.Leu1917=) c.5685G>T (p.Leu1895=) c.5748G>T (p.Leu1916=) c.5745G>T (p.Leu1915=) c.5691G>T (p.Leu1897=) c.5616G>T (p.Leu1872=) c.5211G>T (p.Leu1737=) c.4569G>T (p.Leu1523=) c.2079G>T (p.Leu693=) n.5994G>T | |
10 | g.71784945A>C | CA377146572 | CDH23 | c.5557A>C (p.Asn1853His) c.5572A>C (p.Asn1858His) c.5752A>C (p.Asn1918His) c.5686A>C (p.Asn1896His) c.5749A>C (p.Asn1917His) c.5746A>C (p.Asn1916His) c.5692A>C (p.Asn1898His) c.5617A>C (p.Asn1873His) c.5212A>C (p.Asn1738His) c.4570A>C (p.Asn1524His) c.2080A>C (p.Asn694His) n.5995A>C | |
10 | g.71784945A>G | CA377146574 | CDH23 | c.5557A>G (p.Asn1853Asp) c.5572A>G (p.Asn1858Asp) c.5752A>G (p.Asn1918Asp) c.5686A>G (p.Asn1896Asp) c.5749A>G (p.Asn1917Asp) c.5746A>G (p.Asn1916Asp) c.5692A>G (p.Asn1898Asp) c.5617A>G (p.Asn1873Asp) c.5212A>G (p.Asn1738Asp) c.4570A>G (p.Asn1524Asp) c.2080A>G (p.Asn694Asp) n.5995A>G | |
10 | g.71784945A>T | CA377146575 | CDH23 | c.5557A>T (p.Asn1853Tyr) c.5572A>T (p.Asn1858Tyr) c.5752A>T (p.Asn1918Tyr) c.5686A>T (p.Asn1896Tyr) c.5749A>T (p.Asn1917Tyr) c.5746A>T (p.Asn1916Tyr) c.5692A>T (p.Asn1898Tyr) c.5617A>T (p.Asn1873Tyr) c.5212A>T (p.Asn1738Tyr) c.4570A>T (p.Asn1524Tyr) c.2080A>T (p.Asn694Tyr) n.5995A>T | |
10 | g.71784946A>C | CA377146578 | CDH23 | c.5558A>C (p.Asn1853Thr) c.5573A>C (p.Asn1858Thr) c.5753A>C (p.Asn1918Thr) c.5687A>C (p.Asn1896Thr) c.5750A>C (p.Asn1917Thr) c.5747A>C (p.Asn1916Thr) c.5693A>C (p.Asn1898Thr) c.5618A>C (p.Asn1873Thr) c.5213A>C (p.Asn1738Thr) c.4571A>C (p.Asn1524Thr) c.2081A>C (p.Asn694Thr) n.5996A>C | |
10 | g.71784946A>G | CA377146579 | CDH23 | c.5558A>G (p.Asn1853Ser) c.5573A>G (p.Asn1858Ser) c.5753A>G (p.Asn1918Ser) c.5687A>G (p.Asn1896Ser) c.5750A>G (p.Asn1917Ser) c.5747A>G (p.Asn1916Ser) c.5693A>G (p.Asn1898Ser) c.5618A>G (p.Asn1873Ser) c.5213A>G (p.Asn1738Ser) c.4571A>G (p.Asn1524Ser) c.2081A>G (p.Asn694Ser) n.5996A>G | |
10 | g.71784946A>T | CA377146580 | CDH23 | c.5558A>T (p.Asn1853Ile) c.5573A>T (p.Asn1858Ile) c.5753A>T (p.Asn1918Ile) c.5687A>T (p.Asn1896Ile) c.5750A>T (p.Asn1917Ile) c.5747A>T (p.Asn1916Ile) c.5693A>T (p.Asn1898Ile) c.5618A>T (p.Asn1873Ile) c.5213A>T (p.Asn1738Ile) c.4571A>T (p.Asn1524Ile) c.2081A>T (p.Asn694Ile) n.5996A>T | gnomAD v4 |
10 | g.71784947C>A | CA377146581 | CDH23 | c.5559C>A (p.Asn1853Lys) c.5574C>A (p.Asn1858Lys) c.5754C>A (p.Asn1918Lys) c.5688C>A (p.Asn1896Lys) c.5751C>A (p.Asn1917Lys) c.5748C>A (p.Asn1916Lys) c.5694C>A (p.Asn1898Lys) c.5619C>A (p.Asn1873Lys) c.5214C>A (p.Asn1738Lys) c.4572C>A (p.Asn1524Lys) c.2082C>A (p.Asn694Lys) n.5997C>A | gnomAD v4 |
10 | g.71784947C>G | CA377146583 | CDH23 | c.5559C>G (p.Asn1853Lys) c.5574C>G (p.Asn1858Lys) c.5754C>G (p.Asn1918Lys) c.5688C>G (p.Asn1896Lys) c.5751C>G (p.Asn1917Lys) c.5748C>G (p.Asn1916Lys) c.5694C>G (p.Asn1898Lys) c.5619C>G (p.Asn1873Lys) c.5214C>G (p.Asn1738Lys) c.4572C>G (p.Asn1524Lys) c.2082C>G (p.Asn694Lys) n.5997C>G | |
10 | g.71784947C>T | CA470060718 | CDH23 | c.5559C>T (p.Asn1853=) c.5574C>T (p.Asn1858=) c.5754C>T (p.Asn1918=) c.5688C>T (p.Asn1896=) c.5751C>T (p.Asn1917=) c.5748C>T (p.Asn1916=) c.5694C>T (p.Asn1898=) c.5619C>T (p.Asn1873=) c.5214C>T (p.Asn1738=) c.4572C>T (p.Asn1524=) c.2082C>T (p.Asn694=) n.5997C>T | |
10 | g.71784948C>A | CA209457459 | CDH23 | c.5560C>A (p.Leu1854Met) c.5575C>A (p.Leu1859Met) c.5755C>A (p.Leu1919Met) c.5689C>A (p.Leu1897Met) c.5752C>A (p.Leu1918Met) c.5749C>A (p.Leu1917Met) c.5695C>A (p.Leu1899Met) c.5620C>A (p.Leu1874Met) c.5215C>A (p.Leu1739Met) c.4573C>A (p.Leu1525Met) c.2083C>A (p.Leu695Met) n.5998C>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71784948C= | CA1918862197 | CDH23 | c.5560C= (p.Leu1854=) c.5575C= (p.Leu1859=) c.5755C= (p.Leu1919=) c.5689C= (p.Leu1897=) c.5752C= (p.Leu1918=) c.5749C= (p.Leu1917=) c.5695C= (p.Leu1899=) c.5620C= (p.Leu1874=) c.5215C= (p.Leu1739=) c.4573C= (p.Leu1525=) c.2083C= (p.Leu695=) n.5998C= | |
10 | g.71784948C>G | CA377146585 | CDH23 | c.5560C>G (p.Leu1854Val) c.5575C>G (p.Leu1859Val) c.5755C>G (p.Leu1919Val) c.5689C>G (p.Leu1897Val) c.5752C>G (p.Leu1918Val) c.5749C>G (p.Leu1917Val) c.5695C>G (p.Leu1899Val) c.5620C>G (p.Leu1874Val) c.5215C>G (p.Leu1739Val) c.4573C>G (p.Leu1525Val) c.2083C>G (p.Leu695Val) n.5998C>G | dbSNP |
10 | g.71784948C>T | CA470060719 | CDH23 | c.5560C>T (p.Leu1854=) c.5575C>T (p.Leu1859=) c.5755C>T (p.Leu1919=) c.5689C>T (p.Leu1897=) c.5752C>T (p.Leu1918=) c.5749C>T (p.Leu1917=) c.5695C>T (p.Leu1899=) c.5620C>T (p.Leu1874=) c.5215C>T (p.Leu1739=) c.4573C>T (p.Leu1525=) c.2083C>T (p.Leu695=) n.5998C>T | |
10 | g.71784949T>A | CA377146591 | CDH23 | c.5561T>A (p.Leu1854Gln) c.5576T>A (p.Leu1859Gln) c.5756T>A (p.Leu1919Gln) c.5690T>A (p.Leu1897Gln) c.5753T>A (p.Leu1918Gln) c.5750T>A (p.Leu1917Gln) c.5696T>A (p.Leu1899Gln) c.5621T>A (p.Leu1874Gln) c.5216T>A (p.Leu1739Gln) c.4574T>A (p.Leu1525Gln) c.2084T>A (p.Leu695Gln) n.5999T>A | |
10 | g.71784949T>C | CA377146587 | CDH23 | c.5561T>C (p.Leu1854Pro) c.5576T>C (p.Leu1859Pro) c.5756T>C (p.Leu1919Pro) c.5690T>C (p.Leu1897Pro) c.5753T>C (p.Leu1918Pro) c.5750T>C (p.Leu1917Pro) c.5696T>C (p.Leu1899Pro) c.5621T>C (p.Leu1874Pro) c.5216T>C (p.Leu1739Pro) c.4574T>C (p.Leu1525Pro) c.2084T>C (p.Leu695Pro) n.5999T>C | |
10 | g.71784949T>G | CA377146589 | CDH23 | c.5561T>G (p.Leu1854Arg) c.5576T>G (p.Leu1859Arg) c.5756T>G (p.Leu1919Arg) c.5690T>G (p.Leu1897Arg) c.5753T>G (p.Leu1918Arg) c.5750T>G (p.Leu1917Arg) c.5696T>G (p.Leu1899Arg) c.5621T>G (p.Leu1874Arg) c.5216T>G (p.Leu1739Arg) c.4574T>G (p.Leu1525Arg) c.2084T>G (p.Leu695Arg) n.5999T>G | |
10 | g.71784950G>A | CA470060720 | CDH23 | c.5562G>A (p.Leu1854=) c.5577G>A (p.Leu1859=) c.5757G>A (p.Leu1919=) c.5691G>A (p.Leu1897=) c.5754G>A (p.Leu1918=) c.5751G>A (p.Leu1917=) c.5697G>A (p.Leu1899=) c.5622G>A (p.Leu1874=) c.5217G>A (p.Leu1739=) c.4575G>A (p.Leu1525=) c.2085G>A (p.Leu695=) n.6000G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71784950G>C | CA470060721 | CDH23 | c.5562G>C (p.Leu1854=) c.5577G>C (p.Leu1859=) c.5757G>C (p.Leu1919=) c.5691G>C (p.Leu1897=) c.5754G>C (p.Leu1918=) c.5751G>C (p.Leu1917=) c.5697G>C (p.Leu1899=) c.5622G>C (p.Leu1874=) c.5217G>C (p.Leu1739=) c.4575G>C (p.Leu1525=) c.2085G>C (p.Leu695=) n.6000G>C | |
10 | g.71784950G= | CA1918862204 | CDH23 | c.5562G= (p.Leu1854=) c.5577G= (p.Leu1859=) c.5757G= (p.Leu1919=) c.5691G= (p.Leu1897=) c.5754G= (p.Leu1918=) c.5751G= (p.Leu1917=) c.5697G= (p.Leu1899=) c.5622G= (p.Leu1874=) c.5217G= (p.Leu1739=) c.4575G= (p.Leu1525=) c.2085G= (p.Leu695=) n.6000G= | |
10 | g.71784950G>T | CA470060722 | CDH23 | c.5562G>T (p.Leu1854=) c.5577G>T (p.Leu1859=) c.5757G>T (p.Leu1919=) c.5691G>T (p.Leu1897=) c.5754G>T (p.Leu1918=) c.5751G>T (p.Leu1917=) c.5697G>T (p.Leu1899=) c.5622G>T (p.Leu1874=) c.5217G>T (p.Leu1739=) c.4575G>T (p.Leu1525=) c.2085G>T (p.Leu695=) n.6000G>T | |
10 | g.71784951C>A | CA377146593 | CDH23 | c.5563C>A (p.Pro1855Thr) c.5578C>A (p.Pro1860Thr) c.5758C>A (p.Pro1920Thr) c.5692C>A (p.Pro1898Thr) c.5755C>A (p.Pro1919Thr) c.5752C>A (p.Pro1918Thr) c.5698C>A (p.Pro1900Thr) c.5623C>A (p.Pro1875Thr) c.5218C>A (p.Pro1740Thr) c.4576C>A (p.Pro1526Thr) c.2086C>A (p.Pro696Thr) n.6001C>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71784951C= | CA1918862210 | CDH23 | c.5563C= (p.Pro1855=) c.5578C= (p.Pro1860=) c.5758C= (p.Pro1920=) c.5692C= (p.Pro1898=) c.5755C= (p.Pro1919=) c.5752C= (p.Pro1918=) c.5698C= (p.Pro1900=) c.5623C= (p.Pro1875=) c.5218C= (p.Pro1740=) c.4576C= (p.Pro1526=) c.2086C= (p.Pro696=) n.6001C= | |
10 | g.71784951C>G | CA377146594 | CDH23 | c.5563C>G (p.Pro1855Ala) c.5578C>G (p.Pro1860Ala) c.5758C>G (p.Pro1920Ala) c.5692C>G (p.Pro1898Ala) c.5755C>G (p.Pro1919Ala) c.5752C>G (p.Pro1918Ala) c.5698C>G (p.Pro1900Ala) c.5623C>G (p.Pro1875Ala) c.5218C>G (p.Pro1740Ala) c.4576C>G (p.Pro1526Ala) c.2086C>G (p.Pro696Ala) n.6001C>G | |
10 | g.71784951C>T | CA209457485 | CDH23 | c.5563C>T (p.Pro1855Ser) c.5578C>T (p.Pro1860Ser) c.5758C>T (p.Pro1920Ser) c.5692C>T (p.Pro1898Ser) c.5755C>T (p.Pro1919Ser) c.5752C>T (p.Pro1918Ser) c.5698C>T (p.Pro1900Ser) c.5623C>T (p.Pro1875Ser) c.5218C>T (p.Pro1740Ser) c.4576C>T (p.Pro1526Ser) c.2086C>T (p.Pro696Ser) n.6001C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71784953dup | CA2840286331 | CDH23 | c.5565dup (p.Met1856HisfsTer22) c.5580dup (p.Met1861HisfsTer22) c.5760dup (p.Met1921HisfsTer22) c.5694dup (p.Met1899HisfsTer22) c.5757dup (p.Met1920HisfsTer22) c.5754dup (p.Met1919HisfsTer22) c.5700dup (p.Met1901HisfsTer22) c.5625dup (p.Met1876HisfsTer22) c.5220dup (p.Met1741HisfsTer22) c.4578dup (p.Met1527HisfsTer22) c.2088dup (p.Met697HisfsTer22) n.6003dup | |
10 | g.71784952C>A | CA377146597 | CDH23 | c.5564C>A (p.Pro1855His) c.5579C>A (p.Pro1860His) c.5759C>A (p.Pro1920His) c.5693C>A (p.Pro1898His) c.5756C>A (p.Pro1919His) c.5753C>A (p.Pro1918His) c.5699C>A (p.Pro1900His) c.5624C>A (p.Pro1875His) c.5219C>A (p.Pro1740His) c.4577C>A (p.Pro1526His) c.2087C>A (p.Pro696His) n.6002C>A | |
10 | g.71784952C>G | CA377146598 | CDH23 | c.5564C>G (p.Pro1855Arg) c.5579C>G (p.Pro1860Arg) c.5759C>G (p.Pro1920Arg) c.5693C>G (p.Pro1898Arg) c.5756C>G (p.Pro1919Arg) c.5753C>G (p.Pro1918Arg) c.5699C>G (p.Pro1900Arg) c.5624C>G (p.Pro1875Arg) c.5219C>G (p.Pro1740Arg) c.4577C>G (p.Pro1526Arg) c.2087C>G (p.Pro696Arg) n.6002C>G | |
10 | g.71784952C>T | CA377146600 | CDH23 | c.5564C>T (p.Pro1855Leu) c.5579C>T (p.Pro1860Leu) c.5759C>T (p.Pro1920Leu) c.5693C>T (p.Pro1898Leu) c.5756C>T (p.Pro1919Leu) c.5753C>T (p.Pro1918Leu) c.5699C>T (p.Pro1900Leu) c.5624C>T (p.Pro1875Leu) c.5219C>T (p.Pro1740Leu) c.4577C>T (p.Pro1526Leu) c.2087C>T (p.Pro696Leu) n.6002C>T | |
10 | g.71784953C>A | CA470060723 | CDH23 | c.5565C>A (p.Pro1855=) c.5580C>A (p.Pro1860=) c.5760C>A (p.Pro1920=) c.5694C>A (p.Pro1898=) c.5757C>A (p.Pro1919=) c.5754C>A (p.Pro1918=) c.5700C>A (p.Pro1900=) c.5625C>A (p.Pro1875=) c.5220C>A (p.Pro1740=) c.4578C>A (p.Pro1526=) c.2088C>A (p.Pro696=) n.6003C>A | COSMIC |
10 | g.71784953C>G | CA470060725 | CDH23 | c.5565C>G (p.Pro1855=) c.5580C>G (p.Pro1860=) c.5760C>G (p.Pro1920=) c.5694C>G (p.Pro1898=) c.5757C>G (p.Pro1919=) c.5754C>G (p.Pro1918=) c.5700C>G (p.Pro1900=) c.5625C>G (p.Pro1875=) c.5220C>G (p.Pro1740=) c.4578C>G (p.Pro1526=) c.2088C>G (p.Pro696=) n.6003C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71784953C>T | CA470060724 | CDH23 | c.5565C>T (p.Pro1855=) c.5580C>T (p.Pro1860=) c.5760C>T (p.Pro1920=) c.5694C>T (p.Pro1898=) c.5757C>T (p.Pro1919=) c.5754C>T (p.Pro1918=) c.5700C>T (p.Pro1900=) c.5625C>T (p.Pro1875=) c.5220C>T (p.Pro1740=) c.4578C>T (p.Pro1526=) c.2088C>T (p.Pro696=) n.6003C>T | |
10 | g.71784954A= | CA1918862214 | CDH23 | c.5566A= (p.Met1856=) c.5581A= (p.Met1861=) c.5761A= (p.Met1921=) c.5695A= (p.Met1899=) c.5758A= (p.Met1920=) c.5755A= (p.Met1919=) c.5701A= (p.Met1901=) c.5626A= (p.Met1876=) c.5221A= (p.Met1741=) c.4579A= (p.Met1527=) c.2089A= (p.Met697=) n.6004A= | |
10 | g.71784954A>C | CA377146601 | CDH23 | c.5566A>C (p.Met1856Leu) c.5581A>C (p.Met1861Leu) c.5761A>C (p.Met1921Leu) c.5695A>C (p.Met1899Leu) c.5758A>C (p.Met1920Leu) c.5755A>C (p.Met1919Leu) c.5701A>C (p.Met1901Leu) c.5626A>C (p.Met1876Leu) c.5221A>C (p.Met1741Leu) c.4579A>C (p.Met1527Leu) c.2089A>C (p.Met697Leu) n.6004A>C | |
10 | g.71784954A>G | CA377146602 | CDH23 | c.5566A>G (p.Met1856Val) c.5581A>G (p.Met1861Val) c.5761A>G (p.Met1921Val) c.5695A>G (p.Met1899Val) c.5758A>G (p.Met1920Val) c.5755A>G (p.Met1919Val) c.5701A>G (p.Met1901Val) c.5626A>G (p.Met1876Val) c.5221A>G (p.Met1741Val) c.4579A>G (p.Met1527Val) c.2089A>G (p.Met697Val) n.6004A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71784954A>T | CA377146603 | CDH23 | c.5566A>T (p.Met1856Leu) c.5581A>T (p.Met1861Leu) c.5761A>T (p.Met1921Leu) c.5695A>T (p.Met1899Leu) c.5758A>T (p.Met1920Leu) c.5755A>T (p.Met1919Leu) c.5701A>T (p.Met1901Leu) c.5626A>T (p.Met1876Leu) c.5221A>T (p.Met1741Leu) c.4579A>T (p.Met1527Leu) c.2089A>T (p.Met697Leu) n.6004A>T | |
10 | g.71784955T>A | CA377146604 | CDH23 | c.5567T>A (p.Met1856Lys) c.5582T>A (p.Met1861Lys) c.5762T>A (p.Met1921Lys) c.5696T>A (p.Met1899Lys) c.5759T>A (p.Met1920Lys) c.5756T>A (p.Met1919Lys) c.5702T>A (p.Met1901Lys) c.5627T>A (p.Met1876Lys) c.5222T>A (p.Met1741Lys) c.4580T>A (p.Met1527Lys) c.2090T>A (p.Met697Lys) n.6005T>A | |
10 | g.71784955T>C | CA209457493 | CDH23 | c.5567T>C (p.Met1856Thr) c.5582T>C (p.Met1861Thr) c.5762T>C (p.Met1921Thr) c.5696T>C (p.Met1899Thr) c.5759T>C (p.Met1920Thr) c.5756T>C (p.Met1919Thr) c.5702T>C (p.Met1901Thr) c.5627T>C (p.Met1876Thr) c.5222T>C (p.Met1741Thr) c.4580T>C (p.Met1527Thr) c.2090T>C (p.Met697Thr) n.6005T>C | dbSNP |
10 | g.71784955T>G | CA377146606 | CDH23 | c.5567T>G (p.Met1856Arg) c.5582T>G (p.Met1861Arg) c.5762T>G (p.Met1921Arg) c.5696T>G (p.Met1899Arg) c.5759T>G (p.Met1920Arg) c.5756T>G (p.Met1919Arg) c.5702T>G (p.Met1901Arg) c.5627T>G (p.Met1876Arg) c.5222T>G (p.Met1741Arg) c.4580T>G (p.Met1527Arg) c.2090T>G (p.Met697Arg) n.6005T>G | |
10 | g.71784955T= | CA1918862218 | CDH23 | c.5567T= (p.Met1856=) c.5582T= (p.Met1861=) c.5762T= (p.Met1921=) c.5696T= (p.Met1899=) c.5759T= (p.Met1920=) c.5756T= (p.Met1919=) c.5702T= (p.Met1901=) c.5627T= (p.Met1876=) c.5222T= (p.Met1741=) c.4580T= (p.Met1527=) c.2090T= (p.Met697=) n.6005T= | |
10 | g.71784956G>A | CA377146610 | CDH23 | c.5568G>A (p.Met1856Ile) c.5583G>A (p.Met1861Ile) c.5763G>A (p.Met1921Ile) c.5697G>A (p.Met1899Ile) c.5760G>A (p.Met1920Ile) c.5757G>A (p.Met1919Ile) c.5703G>A (p.Met1901Ile) c.5628G>A (p.Met1876Ile) c.5223G>A (p.Met1741Ile) c.4581G>A (p.Met1527Ile) c.2091G>A (p.Met697Ile) n.6006G>A | dbSNP |
10 | g.71784956G>C | CA377146611 | CDH23 | c.5568G>C (p.Met1856Ile) c.5583G>C (p.Met1861Ile) c.5763G>C (p.Met1921Ile) c.5697G>C (p.Met1899Ile) c.5760G>C (p.Met1920Ile) c.5757G>C (p.Met1919Ile) c.5703G>C (p.Met1901Ile) c.5628G>C (p.Met1876Ile) c.5223G>C (p.Met1741Ile) c.4581G>C (p.Met1527Ile) c.2091G>C (p.Met697Ile) n.6006G>C | |
10 | g.71784956G>T | CA377146608 | CDH23 | c.5568G>T (p.Met1856Ile) c.5583G>T (p.Met1861Ile) c.5763G>T (p.Met1921Ile) c.5697G>T (p.Met1899Ile) c.5760G>T (p.Met1920Ile) c.5757G>T (p.Met1919Ile) c.5703G>T (p.Met1901Ile) c.5628G>T (p.Met1876Ile) c.5223G>T (p.Met1741Ile) c.4581G>T (p.Met1527Ile) c.2091G>T (p.Met697Ile) n.6006G>T | |
10 | g.71784957A>C | CA377146614 | CDH23 | c.5569A>C (p.Asn1857His) c.5584A>C (p.Asn1862His) c.5764A>C (p.Asn1922His) c.5698A>C (p.Asn1900His) c.5761A>C (p.Asn1921His) c.5758A>C (p.Asn1920His) c.5704A>C (p.Asn1902His) c.5629A>C (p.Asn1877His) c.5224A>C (p.Asn1742His) c.4582A>C (p.Asn1528His) c.2092A>C (p.Asn698His) n.6007A>C | |
10 | g.71784957A>G | CA377146613 | CDH23 | c.5569A>G (p.Asn1857Asp) c.5584A>G (p.Asn1862Asp) c.5764A>G (p.Asn1922Asp) c.5698A>G (p.Asn1900Asp) c.5761A>G (p.Asn1921Asp) c.5758A>G (p.Asn1920Asp) c.5704A>G (p.Asn1902Asp) c.5629A>G (p.Asn1877Asp) c.5224A>G (p.Asn1742Asp) c.4582A>G (p.Asn1528Asp) c.2092A>G (p.Asn698Asp) n.6007A>G | COSMIC |
10 | g.71784957A>T | CA377146616 | CDH23 | c.5569A>T (p.Asn1857Tyr) c.5584A>T (p.Asn1862Tyr) c.5764A>T (p.Asn1922Tyr) c.5698A>T (p.Asn1900Tyr) c.5761A>T (p.Asn1921Tyr) c.5758A>T (p.Asn1920Tyr) c.5704A>T (p.Asn1902Tyr) c.5629A>T (p.Asn1877Tyr) c.5224A>T (p.Asn1742Tyr) c.4582A>T (p.Asn1528Tyr) c.2092A>T (p.Asn698Tyr) n.6007A>T | |
10 | g.71784958A= | CA1918862235 | CDH23 | c.5570A= (p.Asn1857=) c.5585A= (p.Asn1862=) c.5765A= (p.Asn1922=) c.5699A= (p.Asn1900=) c.5762A= (p.Asn1921=) c.5759A= (p.Asn1920=) c.5705A= (p.Asn1902=) c.5630A= (p.Asn1877=) c.5225A= (p.Asn1742=) c.4583A= (p.Asn1528=) c.2093A= (p.Asn698=) n.6008A= | |
10 | g.71784958A>C | CA377146618 | CDH23 | c.5570A>C (p.Asn1857Thr) c.5585A>C (p.Asn1862Thr) c.5765A>C (p.Asn1922Thr) c.5699A>C (p.Asn1900Thr) c.5762A>C (p.Asn1921Thr) c.5759A>C (p.Asn1920Thr) c.5705A>C (p.Asn1902Thr) c.5630A>C (p.Asn1877Thr) c.5225A>C (p.Asn1742Thr) c.4583A>C (p.Asn1528Thr) c.2093A>C (p.Asn698Thr) n.6008A>C | gnomAD v4 |
10 | g.71784958A>G | CA5545809 | CDH23 | c.5570A>G (p.Asn1857Ser) c.5585A>G (p.Asn1862Ser) c.5765A>G (p.Asn1922Ser) c.5699A>G (p.Asn1900Ser) c.5762A>G (p.Asn1921Ser) c.5759A>G (p.Asn1920Ser) c.5705A>G (p.Asn1902Ser) c.5630A>G (p.Asn1877Ser) c.5225A>G (p.Asn1742Ser) c.4583A>G (p.Asn1528Ser) c.2093A>G (p.Asn698Ser) n.6008A>G | dbSNP ExAC gnomAD v2 |
10 | g.71784958A>T | CA377146621 | CDH23 | c.5570A>T (p.Asn1857Ile) c.5585A>T (p.Asn1862Ile) c.5765A>T (p.Asn1922Ile) c.5699A>T (p.Asn1900Ile) c.5762A>T (p.Asn1921Ile) c.5759A>T (p.Asn1920Ile) c.5705A>T (p.Asn1902Ile) c.5630A>T (p.Asn1877Ile) c.5225A>T (p.Asn1742Ile) c.4583A>T (p.Asn1528Ile) c.2093A>T (p.Asn698Ile) n.6008A>T | |
10 | g.71784959C>A | CA377146622 | CDH23 | c.5571C>A (p.Asn1857Lys) c.5586C>A (p.Asn1862Lys) c.5766C>A (p.Asn1922Lys) c.5700C>A (p.Asn1900Lys) c.5763C>A (p.Asn1921Lys) c.5760C>A (p.Asn1920Lys) c.5706C>A (p.Asn1902Lys) c.5631C>A (p.Asn1877Lys) c.5226C>A (p.Asn1742Lys) c.4584C>A (p.Asn1528Lys) c.2094C>A (p.Asn698Lys) n.6009C>A | |
10 | g.71784959C= | CA1918862244 | CDH23 | c.5571C= (p.Asn1857=) c.5586C= (p.Asn1862=) c.5766C= (p.Asn1922=) c.5700C= (p.Asn1900=) c.5763C= (p.Asn1921=) c.5760C= (p.Asn1920=) c.5706C= (p.Asn1902=) c.5631C= (p.Asn1877=) c.5226C= (p.Asn1742=) c.4584C= (p.Asn1528=) c.2094C= (p.Asn698=) n.6009C= | |
10 | g.71784959C>G | CA377146623 | CDH23 | c.5571C>G (p.Asn1857Lys) c.5586C>G (p.Asn1862Lys) c.5766C>G (p.Asn1922Lys) c.5700C>G (p.Asn1900Lys) c.5763C>G (p.Asn1921Lys) c.5760C>G (p.Asn1920Lys) c.5706C>G (p.Asn1902Lys) c.5631C>G (p.Asn1877Lys) c.5226C>G (p.Asn1742Lys) c.4584C>G (p.Asn1528Lys) c.2094C>G (p.Asn698Lys) n.6009C>G | |
10 | g.71784959C>T | CA470060726 | CDH23 | c.5571C>T (p.Asn1857=) c.5586C>T (p.Asn1862=) c.5766C>T (p.Asn1922=) c.5700C>T (p.Asn1900=) c.5763C>T (p.Asn1921=) c.5760C>T (p.Asn1920=) c.5706C>T (p.Asn1902=) c.5631C>T (p.Asn1877=) c.5226C>T (p.Asn1742=) c.4584C>T (p.Asn1528=) c.2094C>T (p.Asn698=) n.6009C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71784960A= | CA1918862247 | CDH23 | c.5572A= (p.Ile1858=) c.5587A= (p.Ile1863=) c.5767A= (p.Ile1923=) c.5701A= (p.Ile1901=) c.5764A= (p.Ile1922=) c.5761A= (p.Ile1921=) c.5707A= (p.Ile1903=) c.5632A= (p.Ile1878=) c.5227A= (p.Ile1743=) c.4585A= (p.Ile1529=) c.2095A= (p.Ile699=) n.6010A= | |
10 | g.71784960A>C | CA377146626 | CDH23 | c.5572A>C (p.Ile1858Leu) c.5587A>C (p.Ile1863Leu) c.5767A>C (p.Ile1923Leu) c.5701A>C (p.Ile1901Leu) c.5764A>C (p.Ile1922Leu) c.5761A>C (p.Ile1921Leu) c.5707A>C (p.Ile1903Leu) c.5632A>C (p.Ile1878Leu) c.5227A>C (p.Ile1743Leu) c.4585A>C (p.Ile1529Leu) c.2095A>C (p.Ile699Leu) n.6010A>C | |
10 | g.71784960A>G | CA377146627 | CDH23 | c.5572A>G (p.Ile1858Val) c.5587A>G (p.Ile1863Val) c.5767A>G (p.Ile1923Val) c.5701A>G (p.Ile1901Val) c.5764A>G (p.Ile1922Val) c.5761A>G (p.Ile1921Val) c.5707A>G (p.Ile1903Val) c.5632A>G (p.Ile1878Val) c.5227A>G (p.Ile1743Val) c.4585A>G (p.Ile1529Val) c.2095A>G (p.Ile699Val) n.6010A>G | |
10 | g.71784960A>T | CA377146629 | CDH23 | c.5572A>T (p.Ile1858Phe) c.5587A>T (p.Ile1863Phe) c.5767A>T (p.Ile1923Phe) c.5701A>T (p.Ile1901Phe) c.5764A>T (p.Ile1922Phe) c.5761A>T (p.Ile1921Phe) c.5707A>T (p.Ile1903Phe) c.5632A>T (p.Ile1878Phe) c.5227A>T (p.Ile1743Phe) c.4585A>T (p.Ile1529Phe) c.2095A>T (p.Ile699Phe) n.6010A>T | dbSNP |
10 | g.71784961T>A | CA377146630 | CDH23 | c.5573T>A (p.Ile1858Asn) c.5588T>A (p.Ile1863Asn) c.5768T>A (p.Ile1923Asn) c.5702T>A (p.Ile1901Asn) c.5765T>A (p.Ile1922Asn) c.5762T>A (p.Ile1921Asn) c.5708T>A (p.Ile1903Asn) c.5633T>A (p.Ile1878Asn) c.5228T>A (p.Ile1743Asn) c.4586T>A (p.Ile1529Asn) c.2096T>A (p.Ile699Asn) n.6011T>A | gnomAD v4 |
10 | g.71784961T>C | CA377146632 | CDH23 | c.5573T>C (p.Ile1858Thr) c.5588T>C (p.Ile1863Thr) c.5768T>C (p.Ile1923Thr) c.5702T>C (p.Ile1901Thr) c.5765T>C (p.Ile1922Thr) c.5762T>C (p.Ile1921Thr) c.5708T>C (p.Ile1903Thr) c.5633T>C (p.Ile1878Thr) c.5228T>C (p.Ile1743Thr) c.4586T>C (p.Ile1529Thr) c.2096T>C (p.Ile699Thr) n.6011T>C | |
10 | g.71784961T>G | CA377146634 | CDH23 | c.5573T>G (p.Ile1858Ser) c.5588T>G (p.Ile1863Ser) c.5768T>G (p.Ile1923Ser) c.5702T>G (p.Ile1901Ser) c.5765T>G (p.Ile1922Ser) c.5762T>G (p.Ile1921Ser) c.5708T>G (p.Ile1903Ser) c.5633T>G (p.Ile1878Ser) c.5228T>G (p.Ile1743Ser) c.4586T>G (p.Ile1529Ser) c.2096T>G (p.Ile699Ser) n.6011T>G | |
10 | g.71784962C>A | CA470060727 | CDH23 | c.5574C>A (p.Ile1858=) c.5589C>A (p.Ile1863=) c.5769C>A (p.Ile1923=) c.5703C>A (p.Ile1901=) c.5766C>A (p.Ile1922=) c.5763C>A (p.Ile1921=) c.5709C>A (p.Ile1903=) c.5634C>A (p.Ile1878=) c.5229C>A (p.Ile1743=) c.4587C>A (p.Ile1529=) c.2097C>A (p.Ile699=) n.6012C>A | |
10 | g.71784962C>G | CA377146635 | CDH23 | c.5574C>G (p.Ile1858Met) c.5589C>G (p.Ile1863Met) c.5769C>G (p.Ile1923Met) c.5703C>G (p.Ile1901Met) c.5766C>G (p.Ile1922Met) c.5763C>G (p.Ile1921Met) c.5709C>G (p.Ile1903Met) c.5634C>G (p.Ile1878Met) c.5229C>G (p.Ile1743Met) c.4587C>G (p.Ile1529Met) c.2097C>G (p.Ile699Met) n.6012C>G | |
10 | g.71784962C>T | CA470060728 | CDH23 | c.5574C>T (p.Ile1858=) c.5589C>T (p.Ile1863=) c.5769C>T (p.Ile1923=) c.5703C>T (p.Ile1901=) c.5766C>T (p.Ile1922=) c.5763C>T (p.Ile1921=) c.5709C>T (p.Ile1903=) c.5634C>T (p.Ile1878=) c.5229C>T (p.Ile1743=) c.4587C>T (p.Ile1529=) c.2097C>T (p.Ile699=) n.6012C>T | |
10 | g.71784963A>C | CA377146640 | CDH23 | c.5575A>C (p.Thr1859Pro) c.5590A>C (p.Thr1864Pro) c.5770A>C (p.Thr1924Pro) c.5704A>C (p.Thr1902Pro) c.5767A>C (p.Thr1923Pro) c.5764A>C (p.Thr1922Pro) c.5710A>C (p.Thr1904Pro) c.5635A>C (p.Thr1879Pro) c.5230A>C (p.Thr1744Pro) c.4588A>C (p.Thr1530Pro) c.2098A>C (p.Thr700Pro) n.6013A>C | |
10 | g.71784963A>G | CA377146637 | CDH23 | c.5575A>G (p.Thr1859Ala) c.5590A>G (p.Thr1864Ala) c.5770A>G (p.Thr1924Ala) c.5704A>G (p.Thr1902Ala) c.5767A>G (p.Thr1923Ala) c.5764A>G (p.Thr1922Ala) c.5710A>G (p.Thr1904Ala) c.5635A>G (p.Thr1879Ala) c.5230A>G (p.Thr1744Ala) c.4588A>G (p.Thr1530Ala) c.2098A>G (p.Thr700Ala) n.6013A>G | |
10 | g.71784963A>T | CA377146639 | CDH23 | c.5575A>T (p.Thr1859Ser) c.5590A>T (p.Thr1864Ser) c.5770A>T (p.Thr1924Ser) c.5704A>T (p.Thr1902Ser) c.5767A>T (p.Thr1923Ser) c.5764A>T (p.Thr1922Ser) c.5710A>T (p.Thr1904Ser) c.5635A>T (p.Thr1879Ser) c.5230A>T (p.Thr1744Ser) c.4588A>T (p.Thr1530Ser) c.2098A>T (p.Thr700Ser) n.6013A>T | |
10 | g.71784964C>A | CA377146641 | CDH23 | c.5576C>A (p.Thr1859Asn) c.5591C>A (p.Thr1864Asn) c.5771C>A (p.Thr1924Asn) c.5705C>A (p.Thr1902Asn) c.5768C>A (p.Thr1923Asn) c.5765C>A (p.Thr1922Asn) c.5711C>A (p.Thr1904Asn) c.5636C>A (p.Thr1879Asn) c.5231C>A (p.Thr1744Asn) c.4589C>A (p.Thr1530Asn) c.2099C>A (p.Thr700Asn) n.6014C>A | |
10 | g.71784964C= | CA1918862249 | CDH23 | c.5576C= (p.Thr1859=) c.5591C= (p.Thr1864=) c.5771C= (p.Thr1924=) c.5705C= (p.Thr1902=) c.5768C= (p.Thr1923=) c.5765C= (p.Thr1922=) c.5711C= (p.Thr1904=) c.5636C= (p.Thr1879=) c.5231C= (p.Thr1744=) c.4589C= (p.Thr1530=) c.2099C= (p.Thr700=) n.6014C= | |
10 | g.71784964C>G | CA377146642 | CDH23 | c.5576C>G (p.Thr1859Ser) c.5591C>G (p.Thr1864Ser) c.5771C>G (p.Thr1924Ser) c.5705C>G (p.Thr1902Ser) c.5768C>G (p.Thr1923Ser) c.5765C>G (p.Thr1922Ser) c.5711C>G (p.Thr1904Ser) c.5636C>G (p.Thr1879Ser) c.5231C>G (p.Thr1744Ser) c.4589C>G (p.Thr1530Ser) c.2099C>G (p.Thr700Ser) n.6014C>G | |
10 | g.71784964C>T | CA5545810 | CDH23 | c.5576C>T (p.Thr1859Ile) c.5591C>T (p.Thr1864Ile) c.5771C>T (p.Thr1924Ile) c.5705C>T (p.Thr1902Ile) c.5768C>T (p.Thr1923Ile) c.5765C>T (p.Thr1922Ile) c.5711C>T (p.Thr1904Ile) c.5636C>T (p.Thr1879Ile) c.5231C>T (p.Thr1744Ile) c.4589C>T (p.Thr1530Ile) c.2099C>T (p.Thr700Ile) n.6014C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71784965C>A | CA470060729 | CDH23 | c.5577C>A (p.Thr1859=) c.5592C>A (p.Thr1864=) c.5772C>A (p.Thr1924=) c.5706C>A (p.Thr1902=) c.5769C>A (p.Thr1923=) c.5766C>A (p.Thr1922=) c.5712C>A (p.Thr1904=) c.5637C>A (p.Thr1879=) c.5232C>A (p.Thr1744=) c.4590C>A (p.Thr1530=) c.2100C>A (p.Thr700=) n.6015C>A | |
10 | g.71784965C= | CA1918862253 | CDH23 | c.5577C= (p.Thr1859=) c.5592C= (p.Thr1864=) c.5772C= (p.Thr1924=) c.5706C= (p.Thr1902=) c.5769C= (p.Thr1923=) c.5766C= (p.Thr1922=) c.5712C= (p.Thr1904=) c.5637C= (p.Thr1879=) c.5232C= (p.Thr1744=) c.4590C= (p.Thr1530=) c.2100C= (p.Thr700=) n.6015C= | |
10 | g.71784965C>G | CA470060730 | CDH23 | c.5577C>G (p.Thr1859=) c.5592C>G (p.Thr1864=) c.5772C>G (p.Thr1924=) c.5706C>G (p.Thr1902=) c.5769C>G (p.Thr1923=) c.5766C>G (p.Thr1922=) c.5712C>G (p.Thr1904=) c.5637C>G (p.Thr1879=) c.5232C>G (p.Thr1744=) c.4590C>G (p.Thr1530=) c.2100C>G (p.Thr700=) n.6015C>G | |
10 | g.71784965C>T | CA209457495 | CDH23 | c.5577C>T (p.Thr1859=) c.5592C>T (p.Thr1864=) c.5772C>T (p.Thr1924=) c.5706C>T (p.Thr1902=) c.5769C>T (p.Thr1923=) c.5766C>T (p.Thr1922=) c.5712C>T (p.Thr1904=) c.5637C>T (p.Thr1879=) c.5232C>T (p.Thr1744=) c.4590C>T (p.Thr1530=) c.2100C>T (p.Thr700=) n.6015C>T | dbSNP |
10 | g.71784966A= | CA1918862263 | CDH23 | c.5578A= (p.Ile1860=) c.5593A= (p.Ile1865=) c.5773A= (p.Ile1925=) c.5707A= (p.Ile1903=) c.5770A= (p.Ile1924=) c.5767A= (p.Ile1923=) c.5713A= (p.Ile1905=) c.5638A= (p.Ile1880=) c.5233A= (p.Ile1745=) c.4591A= (p.Ile1531=) c.2101A= (p.Ile701=) n.6016A= | |
10 | g.71784966A>C | CA377146644 | CDH23 | c.5578A>C (p.Ile1860Leu) c.5593A>C (p.Ile1865Leu) c.5773A>C (p.Ile1925Leu) c.5707A>C (p.Ile1903Leu) c.5770A>C (p.Ile1924Leu) c.5767A>C (p.Ile1923Leu) c.5713A>C (p.Ile1905Leu) c.5638A>C (p.Ile1880Leu) c.5233A>C (p.Ile1745Leu) c.4591A>C (p.Ile1531Leu) c.2101A>C (p.Ile701Leu) n.6016A>C | |
10 | g.71784966A>G | CA209457499 | CDH23 | c.5578A>G (p.Ile1860Val) c.5593A>G (p.Ile1865Val) c.5773A>G (p.Ile1925Val) c.5707A>G (p.Ile1903Val) c.5770A>G (p.Ile1924Val) c.5767A>G (p.Ile1923Val) c.5713A>G (p.Ile1905Val) c.5638A>G (p.Ile1880Val) c.5233A>G (p.Ile1745Val) c.4591A>G (p.Ile1531Val) c.2101A>G (p.Ile701Val) n.6016A>G | ClinVar dbSNP |
10 | g.71784966A>T | CA5545811 | CDH23 | c.5578A>T (p.Ile1860Phe) c.5593A>T (p.Ile1865Phe) c.5773A>T (p.Ile1925Phe) c.5707A>T (p.Ile1903Phe) c.5770A>T (p.Ile1924Phe) c.5767A>T (p.Ile1923Phe) c.5713A>T (p.Ile1905Phe) c.5638A>T (p.Ile1880Phe) c.5233A>T (p.Ile1745Phe) c.4591A>T (p.Ile1531Phe) c.2101A>T (p.Ile701Phe) n.6016A>T | dbSNP ExAC gnomAD v4 |
10 | g.71784967T>A | CA377146646 | CDH23 | c.5579T>A (p.Ile1860Asn) c.5594T>A (p.Ile1865Asn) c.5774T>A (p.Ile1925Asn) c.5708T>A (p.Ile1903Asn) c.5771T>A (p.Ile1924Asn) c.5768T>A (p.Ile1923Asn) c.5714T>A (p.Ile1905Asn) c.5639T>A (p.Ile1880Asn) c.5234T>A (p.Ile1745Asn) c.4592T>A (p.Ile1531Asn) c.2102T>A (p.Ile701Asn) n.6017T>A | |
10 | g.71784967T>C | CA377146648 | CDH23 | c.5579T>C (p.Ile1860Thr) c.5594T>C (p.Ile1865Thr) c.5774T>C (p.Ile1925Thr) c.5708T>C (p.Ile1903Thr) c.5771T>C (p.Ile1924Thr) c.5768T>C (p.Ile1923Thr) c.5714T>C (p.Ile1905Thr) c.5639T>C (p.Ile1880Thr) c.5234T>C (p.Ile1745Thr) c.4592T>C (p.Ile1531Thr) c.2102T>C (p.Ile701Thr) n.6017T>C | |
10 | g.71784967T>G | CA377146650 | CDH23 | c.5579T>G (p.Ile1860Ser) c.5594T>G (p.Ile1865Ser) c.5774T>G (p.Ile1925Ser) c.5708T>G (p.Ile1903Ser) c.5771T>G (p.Ile1924Ser) c.5768T>G (p.Ile1923Ser) c.5714T>G (p.Ile1905Ser) c.5639T>G (p.Ile1880Ser) c.5234T>G (p.Ile1745Ser) c.4592T>G (p.Ile1531Ser) c.2102T>G (p.Ile701Ser) n.6017T>G | |
10 | g.71784968C>A | CA470060731 | CDH23 | c.5580C>A (p.Ile1860=) c.5595C>A (p.Ile1865=) c.5775C>A (p.Ile1925=) c.5709C>A (p.Ile1903=) c.5772C>A (p.Ile1924=) c.5769C>A (p.Ile1923=) c.5715C>A (p.Ile1905=) c.5640C>A (p.Ile1880=) c.5235C>A (p.Ile1745=) c.4593C>A (p.Ile1531=) c.2103C>A (p.Ile701=) n.6018C>A | |
10 | g.71784968C>G | CA377146652 | CDH23 | c.5580C>G (p.Ile1860Met) c.5595C>G (p.Ile1865Met) c.5775C>G (p.Ile1925Met) c.5709C>G (p.Ile1903Met) c.5772C>G (p.Ile1924Met) c.5769C>G (p.Ile1923Met) c.5715C>G (p.Ile1905Met) c.5640C>G (p.Ile1880Met) c.5235C>G (p.Ile1745Met) c.4593C>G (p.Ile1531Met) c.2103C>G (p.Ile701Met) n.6018C>G | |
10 | g.71784968C>T | CA470060732 | CDH23 | c.5580C>T (p.Ile1860=) c.5595C>T (p.Ile1865=) c.5775C>T (p.Ile1925=) c.5709C>T (p.Ile1903=) c.5772C>T (p.Ile1924=) c.5769C>T (p.Ile1923=) c.5715C>T (p.Ile1905=) c.5640C>T (p.Ile1880=) c.5235C>T (p.Ile1745=) c.4593C>T (p.Ile1531=) c.2103C>T (p.Ile701=) n.6018C>T | |
10 | g.71784969A>C | CA377146656 | CDH23 | c.5581A>C (p.Ser1861Arg) c.5596A>C (p.Ser1866Arg) c.5776A>C (p.Ser1926Arg) c.5710A>C (p.Ser1904Arg) c.5773A>C (p.Ser1925Arg) c.5770A>C (p.Ser1924Arg) c.5716A>C (p.Ser1906Arg) c.5641A>C (p.Ser1881Arg) c.5236A>C (p.Ser1746Arg) c.4594A>C (p.Ser1532Arg) c.2104A>C (p.Ser702Arg) n.6019A>C | |
10 | g.71784969A>G | CA377146655 | CDH23 | c.5581A>G (p.Ser1861Gly) c.5596A>G (p.Ser1866Gly) c.5776A>G (p.Ser1926Gly) c.5710A>G (p.Ser1904Gly) c.5773A>G (p.Ser1925Gly) c.5770A>G (p.Ser1924Gly) c.5716A>G (p.Ser1906Gly) c.5641A>G (p.Ser1881Gly) c.5236A>G (p.Ser1746Gly) c.4594A>G (p.Ser1532Gly) c.2104A>G (p.Ser702Gly) n.6019A>G | |
10 | g.71784969A>T | CA377146653 | CDH23 | c.5581A>T (p.Ser1861Cys) c.5596A>T (p.Ser1866Cys) c.5776A>T (p.Ser1926Cys) c.5710A>T (p.Ser1904Cys) c.5773A>T (p.Ser1925Cys) c.5770A>T (p.Ser1924Cys) c.5716A>T (p.Ser1906Cys) c.5641A>T (p.Ser1881Cys) c.5236A>T (p.Ser1746Cys) c.4594A>T (p.Ser1532Cys) c.2104A>T (p.Ser702Cys) n.6019A>T | |
10 | g.71784970G>A | CA377146658 | CDH23 | c.5582G>A (p.Ser1861Asn) c.5597G>A (p.Ser1866Asn) c.5777G>A (p.Ser1926Asn) c.5711G>A (p.Ser1904Asn) c.5774G>A (p.Ser1925Asn) c.5771G>A (p.Ser1924Asn) c.5717G>A (p.Ser1906Asn) c.5642G>A (p.Ser1881Asn) c.5237G>A (p.Ser1746Asn) c.4595G>A (p.Ser1532Asn) c.2105G>A (p.Ser702Asn) n.6020G>A | gnomAD v4 |
10 | g.71784970G>C | CA377146660 | CDH23 | c.5582G>C (p.Ser1861Thr) c.5597G>C (p.Ser1866Thr) c.5777G>C (p.Ser1926Thr) c.5711G>C (p.Ser1904Thr) c.5774G>C (p.Ser1925Thr) c.5771G>C (p.Ser1924Thr) c.5717G>C (p.Ser1906Thr) c.5642G>C (p.Ser1881Thr) c.5237G>C (p.Ser1746Thr) c.4595G>C (p.Ser1532Thr) c.2105G>C (p.Ser702Thr) n.6020G>C | |
10 | g.71784970G>T | CA377146661 | CDH23 | c.5582G>T (p.Ser1861Ile) c.5597G>T (p.Ser1866Ile) c.5777G>T (p.Ser1926Ile) c.5711G>T (p.Ser1904Ile) c.5774G>T (p.Ser1925Ile) c.5771G>T (p.Ser1924Ile) c.5717G>T (p.Ser1906Ile) c.5642G>T (p.Ser1881Ile) c.5237G>T (p.Ser1746Ile) c.4595G>T (p.Ser1532Ile) c.2105G>T (p.Ser702Ile) n.6020G>T | |
10 | g.71784971C>A | CA377146662 | CDH23 | c.5583C>A (p.Ser1861Arg) c.5598C>A (p.Ser1866Arg) c.5778C>A (p.Ser1926Arg) c.5712C>A (p.Ser1904Arg) c.5775C>A (p.Ser1925Arg) c.5772C>A (p.Ser1924Arg) c.5718C>A (p.Ser1906Arg) c.5643C>A (p.Ser1881Arg) c.5238C>A (p.Ser1746Arg) c.4596C>A (p.Ser1532Arg) c.2106C>A (p.Ser702Arg) n.6021C>A | |
10 | g.71784971C= | CA1918862271 | CDH23 | c.5583C= (p.Ser1861=) c.5598C= (p.Ser1866=) c.5778C= (p.Ser1926=) c.5712C= (p.Ser1904=) c.5775C= (p.Ser1925=) c.5772C= (p.Ser1924=) c.5718C= (p.Ser1906=) c.5643C= (p.Ser1881=) c.5238C= (p.Ser1746=) c.4596C= (p.Ser1532=) c.2106C= (p.Ser702=) n.6021C= | |
10 | g.71784971C>G | CA377146663 | CDH23 | c.5583C>G (p.Ser1861Arg) c.5598C>G (p.Ser1866Arg) c.5778C>G (p.Ser1926Arg) c.5712C>G (p.Ser1904Arg) c.5775C>G (p.Ser1925Arg) c.5772C>G (p.Ser1924Arg) c.5718C>G (p.Ser1906Arg) c.5643C>G (p.Ser1881Arg) c.5238C>G (p.Ser1746Arg) c.4596C>G (p.Ser1532Arg) c.2106C>G (p.Ser702Arg) n.6021C>G | |
10 | g.71784971C>T | CA5545812 | CDH23 | c.5583C>T (p.Ser1861=) c.5598C>T (p.Ser1866=) c.5778C>T (p.Ser1926=) c.5712C>T (p.Ser1904=) c.5775C>T (p.Ser1925=) c.5772C>T (p.Ser1924=) c.5718C>T (p.Ser1906=) c.5643C>T (p.Ser1881=) c.5238C>T (p.Ser1746=) c.4596C>T (p.Ser1532=) c.2106C>T (p.Ser702=) n.6021C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71784972G>A | CA5545813 | CDH23 | c.5584G>A (p.Glu1862Lys) c.5599G>A (p.Glu1867Lys) c.5779G>A (p.Glu1927Lys) c.5713G>A (p.Glu1905Lys) c.5776G>A (p.Glu1926Lys) c.5773G>A (p.Glu1925Lys) c.5719G>A (p.Glu1907Lys) c.5644G>A (p.Glu1882Lys) c.5239G>A (p.Glu1747Lys) c.4597G>A (p.Glu1533Lys) c.2107G>A (p.Glu703Lys) n.6022G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71784972G>C | CA377146665 | CDH23 | c.5584G>C (p.Glu1862Gln) c.5599G>C (p.Glu1867Gln) c.5779G>C (p.Glu1927Gln) c.5713G>C (p.Glu1905Gln) c.5776G>C (p.Glu1926Gln) c.5773G>C (p.Glu1925Gln) c.5719G>C (p.Glu1907Gln) c.5644G>C (p.Glu1882Gln) c.5239G>C (p.Glu1747Gln) c.4597G>C (p.Glu1533Gln) c.2107G>C (p.Glu703Gln) n.6022G>C | |
10 | g.71784972G= | CA1918862280 | CDH23 | c.5584G= (p.Glu1862=) c.5599G= (p.Glu1867=) c.5779G= (p.Glu1927=) c.5713G= (p.Glu1905=) c.5776G= (p.Glu1926=) c.5773G= (p.Glu1925=) c.5719G= (p.Glu1907=) c.5644G= (p.Glu1882=) c.5239G= (p.Glu1747=) c.4597G= (p.Glu1533=) c.2107G= (p.Glu703=) n.6022G= | |
10 | g.71784972G>T | CA377146666 | CDH23 | c.5584G>T (p.Glu1862Ter) c.5599G>T (p.Glu1867Ter) c.5779G>T (p.Glu1927Ter) c.5713G>T (p.Glu1905Ter) c.5776G>T (p.Glu1926Ter) c.5773G>T (p.Glu1925Ter) c.5719G>T (p.Glu1907Ter) c.5644G>T (p.Glu1882Ter) c.5239G>T (p.Glu1747Ter) c.4597G>T (p.Glu1533Ter) c.2107G>T (p.Glu703Ter) n.6022G>T | dbSNP |
10 | g.71784973A>C | CA377146668 | CDH23 | c.5585A>C (p.Glu1862Ala) c.5600A>C (p.Glu1867Ala) c.5780A>C (p.Glu1927Ala) c.5714A>C (p.Glu1905Ala) c.5777A>C (p.Glu1926Ala) c.5774A>C (p.Glu1925Ala) c.5720A>C (p.Glu1907Ala) c.5645A>C (p.Glu1882Ala) c.5240A>C (p.Glu1747Ala) c.4598A>C (p.Glu1533Ala) c.2108A>C (p.Glu703Ala) n.6023A>C | |
10 | g.71784973A>G | CA377146669 | CDH23 | c.5585A>G (p.Glu1862Gly) c.5600A>G (p.Glu1867Gly) c.5780A>G (p.Glu1927Gly) c.5714A>G (p.Glu1905Gly) c.5777A>G (p.Glu1926Gly) c.5774A>G (p.Glu1925Gly) c.5720A>G (p.Glu1907Gly) c.5645A>G (p.Glu1882Gly) c.5240A>G (p.Glu1747Gly) c.4598A>G (p.Glu1533Gly) c.2108A>G (p.Glu703Gly) n.6023A>G | |
10 | g.71784973A>T | CA377146670 | CDH23 | c.5585A>T (p.Glu1862Val) c.5600A>T (p.Glu1867Val) c.5780A>T (p.Glu1927Val) c.5714A>T (p.Glu1905Val) c.5777A>T (p.Glu1926Val) c.5774A>T (p.Glu1925Val) c.5720A>T (p.Glu1907Val) c.5645A>T (p.Glu1882Val) c.5240A>T (p.Glu1747Val) c.4598A>T (p.Glu1533Val) c.2108A>T (p.Glu703Val) n.6023A>T | |
10 | g.71784974G>A | CA470060733 | CDH23 | c.5586G>A (p.Glu1862=) c.5601G>A (p.Glu1867=) c.5781G>A (p.Glu1927=) c.5715G>A (p.Glu1905=) c.5778G>A (p.Glu1926=) c.5775G>A (p.Glu1925=) c.5721G>A (p.Glu1907=) c.5646G>A (p.Glu1882=) c.5241G>A (p.Glu1747=) c.4599G>A (p.Glu1533=) c.2109G>A (p.Glu703=) n.6024G>A | ClinVar gnomAD v4 |
10 | g.71784974G>C | CA377146672 | CDH23 | c.5586G>C (p.Glu1862Asp) c.5601G>C (p.Glu1867Asp) c.5781G>C (p.Glu1927Asp) c.5715G>C (p.Glu1905Asp) c.5778G>C (p.Glu1926Asp) c.5775G>C (p.Glu1925Asp) c.5721G>C (p.Glu1907Asp) c.5646G>C (p.Glu1882Asp) c.5241G>C (p.Glu1747Asp) c.4599G>C (p.Glu1533Asp) c.2109G>C (p.Glu703Asp) n.6024G>C | |
10 | g.71784974G>T | CA377146674 | CDH23 | c.5586G>T (p.Glu1862Asp) c.5601G>T (p.Glu1867Asp) c.5781G>T (p.Glu1927Asp) c.5715G>T (p.Glu1905Asp) c.5778G>T (p.Glu1926Asp) c.5775G>T (p.Glu1925Asp) c.5721G>T (p.Glu1907Asp) c.5646G>T (p.Glu1882Asp) c.5241G>T (p.Glu1747Asp) c.4599G>T (p.Glu1533Asp) c.2109G>T (p.Glu703Asp) n.6024G>T | |
10 | g.71784975A>C | CA377146676 | CDH23 | c.5587A>C (p.Asn1863His) c.5602A>C (p.Asn1868His) c.5782A>C (p.Asn1928His) c.5716A>C (p.Asn1906His) c.5779A>C (p.Asn1927His) c.5776A>C (p.Asn1926His) c.5722A>C (p.Asn1908His) c.5647A>C (p.Asn1883His) c.5242A>C (p.Asn1748His) c.4600A>C (p.Asn1534His) c.2110A>C (p.Asn704His) n.6025A>C | |
10 | g.71784975A>G | CA377146678 | CDH23 | c.5587A>G (p.Asn1863Asp) c.5602A>G (p.Asn1868Asp) c.5782A>G (p.Asn1928Asp) c.5716A>G (p.Asn1906Asp) c.5779A>G (p.Asn1927Asp) c.5776A>G (p.Asn1926Asp) c.5722A>G (p.Asn1908Asp) c.5647A>G (p.Asn1883Asp) c.5242A>G (p.Asn1748Asp) c.4600A>G (p.Asn1534Asp) c.2110A>G (p.Asn704Asp) n.6025A>G | gnomAD v4 |
10 | g.71784975A>T | CA377146677 | CDH23 | c.5587A>T (p.Asn1863Tyr) c.5602A>T (p.Asn1868Tyr) c.5782A>T (p.Asn1928Tyr) c.5716A>T (p.Asn1906Tyr) c.5779A>T (p.Asn1927Tyr) c.5776A>T (p.Asn1926Tyr) c.5722A>T (p.Asn1908Tyr) c.5647A>T (p.Asn1883Tyr) c.5242A>T (p.Asn1748Tyr) c.4600A>T (p.Asn1534Tyr) c.2110A>T (p.Asn704Tyr) n.6025A>T | |
10 | g.71784976A>C | CA377146680 | CDH23 | c.5588A>C (p.Asn1863Thr) c.5603A>C (p.Asn1868Thr) c.5783A>C (p.Asn1928Thr) c.5717A>C (p.Asn1906Thr) c.5780A>C (p.Asn1927Thr) c.5777A>C (p.Asn1926Thr) c.5723A>C (p.Asn1908Thr) c.5648A>C (p.Asn1883Thr) c.5243A>C (p.Asn1748Thr) c.4601A>C (p.Asn1534Thr) c.2111A>C (p.Asn704Thr) n.6026A>C | |
10 | g.71784976A>G | CA377146682 | CDH23 | c.5588A>G (p.Asn1863Ser) c.5603A>G (p.Asn1868Ser) c.5783A>G (p.Asn1928Ser) c.5717A>G (p.Asn1906Ser) c.5780A>G (p.Asn1927Ser) c.5777A>G (p.Asn1926Ser) c.5723A>G (p.Asn1908Ser) c.5648A>G (p.Asn1883Ser) c.5243A>G (p.Asn1748Ser) c.4601A>G (p.Asn1534Ser) c.2111A>G (p.Asn704Ser) n.6026A>G | |
10 | g.71784976A>T | CA377146683 | CDH23 | c.5588A>T (p.Asn1863Ile) c.5603A>T (p.Asn1868Ile) c.5783A>T (p.Asn1928Ile) c.5717A>T (p.Asn1906Ile) c.5780A>T (p.Asn1927Ile) c.5777A>T (p.Asn1926Ile) c.5723A>T (p.Asn1908Ile) c.5648A>T (p.Asn1883Ile) c.5243A>T (p.Asn1748Ile) c.4601A>T (p.Asn1534Ile) c.2111A>T (p.Asn704Ile) n.6026A>T | |
10 | g.71784977C>A | CA377146685 | CDH23 | c.5589C>A (p.Asn1863Lys) c.5604C>A (p.Asn1868Lys) c.5784C>A (p.Asn1928Lys) c.5718C>A (p.Asn1906Lys) c.5781C>A (p.Asn1927Lys) c.5778C>A (p.Asn1926Lys) c.5724C>A (p.Asn1908Lys) c.5649C>A (p.Asn1883Lys) c.5244C>A (p.Asn1748Lys) c.4602C>A (p.Asn1534Lys) c.2112C>A (p.Asn704Lys) n.6027C>A | |
10 | g.71784977C>G | CA377146686 | CDH23 | c.5589C>G (p.Asn1863Lys) c.5604C>G (p.Asn1868Lys) c.5784C>G (p.Asn1928Lys) c.5718C>G (p.Asn1906Lys) c.5781C>G (p.Asn1927Lys) c.5778C>G (p.Asn1926Lys) c.5724C>G (p.Asn1908Lys) c.5649C>G (p.Asn1883Lys) c.5244C>G (p.Asn1748Lys) c.4602C>G (p.Asn1534Lys) c.2112C>G (p.Asn704Lys) n.6027C>G | |
10 | g.71784977C>T | CA470060734 | CDH23 | c.5589C>T (p.Asn1863=) c.5604C>T (p.Asn1868=) c.5784C>T (p.Asn1928=) c.5718C>T (p.Asn1906=) c.5781C>T (p.Asn1927=) c.5778C>T (p.Asn1926=) c.5724C>T (p.Asn1908=) c.5649C>T (p.Asn1883=) c.5244C>T (p.Asn1748=) c.4602C>T (p.Asn1534=) c.2112C>T (p.Asn704=) n.6027C>T | ClinVar dbSNP gnomAD v4 |
10 | g.71784978A= | CA1918862289 | CDH23 | c.5590A= (p.Ser1864=) c.5605A= (p.Ser1869=) c.5785A= (p.Ser1929=) c.5719A= (p.Ser1907=) c.5782A= (p.Ser1928=) c.5779A= (p.Ser1927=) c.5725A= (p.Ser1909=) c.5650A= (p.Ser1884=) c.5245A= (p.Ser1749=) c.4603A= (p.Ser1535=) c.2113A= (p.Ser705=) n.6028A= | |
10 | g.71784978A>C | CA377146687 | CDH23 | c.5590A>C (p.Ser1864Arg) c.5605A>C (p.Ser1869Arg) c.5785A>C (p.Ser1929Arg) c.5719A>C (p.Ser1907Arg) c.5782A>C (p.Ser1928Arg) c.5779A>C (p.Ser1927Arg) c.5725A>C (p.Ser1909Arg) c.5650A>C (p.Ser1884Arg) c.5245A>C (p.Ser1749Arg) c.4603A>C (p.Ser1535Arg) c.2113A>C (p.Ser705Arg) n.6028A>C | |
10 | g.71784978A>G | CA377146688 | CDH23 | c.5590A>G (p.Ser1864Gly) c.5605A>G (p.Ser1869Gly) c.5785A>G (p.Ser1929Gly) c.5719A>G (p.Ser1907Gly) c.5782A>G (p.Ser1928Gly) c.5779A>G (p.Ser1927Gly) c.5725A>G (p.Ser1909Gly) c.5650A>G (p.Ser1884Gly) c.5245A>G (p.Ser1749Gly) c.4603A>G (p.Ser1535Gly) c.2113A>G (p.Ser705Gly) n.6028A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71784978A>T | CA377146690 | CDH23 | c.5590A>T (p.Ser1864Cys) c.5605A>T (p.Ser1869Cys) c.5785A>T (p.Ser1929Cys) c.5719A>T (p.Ser1907Cys) c.5782A>T (p.Ser1928Cys) c.5779A>T (p.Ser1927Cys) c.5725A>T (p.Ser1909Cys) c.5650A>T (p.Ser1884Cys) c.5245A>T (p.Ser1749Cys) c.4603A>T (p.Ser1535Cys) c.2113A>T (p.Ser705Cys) n.6028A>T | |
10 | g.71784979G>A | CA377146692 | CDH23 | c.5591G>A (p.Ser1864Asn) c.5606G>A (p.Ser1869Asn) c.5786G>A (p.Ser1929Asn) c.5720G>A (p.Ser1907Asn) c.5783G>A (p.Ser1928Asn) c.5780G>A (p.Ser1927Asn) c.5726G>A (p.Ser1909Asn) c.5651G>A (p.Ser1884Asn) c.5246G>A (p.Ser1749Asn) c.4604G>A (p.Ser1535Asn) c.2114G>A (p.Ser705Asn) n.6029G>A | |
10 | g.71784979G>C | CA377146693 | CDH23 | c.5591G>C (p.Ser1864Thr) c.5606G>C (p.Ser1869Thr) c.5786G>C (p.Ser1929Thr) c.5720G>C (p.Ser1907Thr) c.5783G>C (p.Ser1928Thr) c.5780G>C (p.Ser1927Thr) c.5726G>C (p.Ser1909Thr) c.5651G>C (p.Ser1884Thr) c.5246G>C (p.Ser1749Thr) c.4604G>C (p.Ser1535Thr) c.2114G>C (p.Ser705Thr) n.6029G>C | |
10 | g.71784979G>T | CA377146695 | CDH23 | c.5591G>T (p.Ser1864Ile) c.5606G>T (p.Ser1869Ile) c.5786G>T (p.Ser1929Ile) c.5720G>T (p.Ser1907Ile) c.5783G>T (p.Ser1928Ile) c.5780G>T (p.Ser1927Ile) c.5726G>T (p.Ser1909Ile) c.5651G>T (p.Ser1884Ile) c.5246G>T (p.Ser1749Ile) c.4604G>T (p.Ser1535Ile) c.2114G>T (p.Ser705Ile) n.6029G>T | |
10 | g.71784980C>A | CA377146698 | CDH23 | c.5592C>A (p.Ser1864Arg) c.5607C>A (p.Ser1869Arg) c.5787C>A (p.Ser1929Arg) c.5721C>A (p.Ser1907Arg) c.5784C>A (p.Ser1928Arg) c.5781C>A (p.Ser1927Arg) c.5727C>A (p.Ser1909Arg) c.5652C>A (p.Ser1884Arg) c.5247C>A (p.Ser1749Arg) c.4605C>A (p.Ser1535Arg) c.2115C>A (p.Ser705Arg) n.6030C>A | |
10 | g.71784980C>G | CA377146696 | CDH23 | c.5592C>G (p.Ser1864Arg) c.5607C>G (p.Ser1869Arg) c.5787C>G (p.Ser1929Arg) c.5721C>G (p.Ser1907Arg) c.5784C>G (p.Ser1928Arg) c.5781C>G (p.Ser1927Arg) c.5727C>G (p.Ser1909Arg) c.5652C>G (p.Ser1884Arg) c.5247C>G (p.Ser1749Arg) c.4605C>G (p.Ser1535Arg) c.2115C>G (p.Ser705Arg) n.6030C>G | |
10 | g.71784980C>T | CA470060735 | CDH23 | c.5592C>T (p.Ser1864=) c.5607C>T (p.Ser1869=) c.5787C>T (p.Ser1929=) c.5721C>T (p.Ser1907=) c.5784C>T (p.Ser1928=) c.5781C>T (p.Ser1927=) c.5727C>T (p.Ser1909=) c.5652C>T (p.Ser1884=) c.5247C>T (p.Ser1749=) c.4605C>T (p.Ser1535=) c.2115C>T (p.Ser705=) n.6030C>T | ClinVar dbSNP |
10 | g.71784982dup | CA2838827956 | CDH23 | c.5594dup (p.Val1866CysfsTer12) c.5609dup (p.Val1871CysfsTer12) c.5789dup (p.Val1931CysfsTer12) c.5723dup (p.Val1909CysfsTer12) c.5786dup (p.Val1930CysfsTer12) c.5783dup (p.Val1929CysfsTer12) c.5729dup (p.Val1911CysfsTer12) c.5654dup (p.Val1886CysfsTer12) c.5249dup (p.Val1751CysfsTer12) c.4607dup (p.Val1537CysfsTer12) c.2117dup (p.Val707CysfsTer12) n.6032dup | |
10 | g.71784981C>A | CA377146700 | CDH23 | c.5593C>A (p.Pro1865Thr) c.5608C>A (p.Pro1870Thr) c.5788C>A (p.Pro1930Thr) c.5722C>A (p.Pro1908Thr) c.5785C>A (p.Pro1929Thr) c.5782C>A (p.Pro1928Thr) c.5728C>A (p.Pro1910Thr) c.5653C>A (p.Pro1885Thr) c.5248C>A (p.Pro1750Thr) c.4606C>A (p.Pro1536Thr) c.2116C>A (p.Pro706Thr) n.6031C>A | dbSNP |
10 | g.71784981C= | CA1918862296 | CDH23 | c.5593C= (p.Pro1865=) c.5608C= (p.Pro1870=) c.5788C= (p.Pro1930=) c.5722C= (p.Pro1908=) c.5785C= (p.Pro1929=) c.5782C= (p.Pro1928=) c.5728C= (p.Pro1910=) c.5653C= (p.Pro1885=) c.5248C= (p.Pro1750=) c.4606C= (p.Pro1536=) c.2116C= (p.Pro706=) n.6031C= | |
10 | g.71784981C>G | CA377146702 | CDH23 | c.5593C>G (p.Pro1865Ala) c.5608C>G (p.Pro1870Ala) c.5788C>G (p.Pro1930Ala) c.5722C>G (p.Pro1908Ala) c.5785C>G (p.Pro1929Ala) c.5782C>G (p.Pro1928Ala) c.5728C>G (p.Pro1910Ala) c.5653C>G (p.Pro1885Ala) c.5248C>G (p.Pro1750Ala) c.4606C>G (p.Pro1536Ala) c.2116C>G (p.Pro706Ala) n.6031C>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71784981C>T | CA377146701 | CDH23 | c.5593C>T (p.Pro1865Ser) c.5608C>T (p.Pro1870Ser) c.5788C>T (p.Pro1930Ser) c.5722C>T (p.Pro1908Ser) c.5785C>T (p.Pro1929Ser) c.5782C>T (p.Pro1928Ser) c.5728C>T (p.Pro1910Ser) c.5653C>T (p.Pro1885Ser) c.5248C>T (p.Pro1750Ser) c.4606C>T (p.Pro1536Ser) c.2116C>T (p.Pro706Ser) n.6031C>T | |
10 | g.71784982C>A | CA377146704 | CDH23 | c.5594C>A (p.Pro1865His) c.5609C>A (p.Pro1870His) c.5789C>A (p.Pro1930His) c.5723C>A (p.Pro1908His) c.5786C>A (p.Pro1929His) c.5783C>A (p.Pro1928His) c.5729C>A (p.Pro1910His) c.5654C>A (p.Pro1885His) c.5249C>A (p.Pro1750His) c.4607C>A (p.Pro1536His) c.2117C>A (p.Pro706His) n.6032C>A | |
10 | g.71784982C= | CA1918862303 | CDH23 | c.5594C= (p.Pro1865=) c.5609C= (p.Pro1870=) c.5789C= (p.Pro1930=) c.5723C= (p.Pro1908=) c.5786C= (p.Pro1929=) c.5783C= (p.Pro1928=) c.5729C= (p.Pro1910=) c.5654C= (p.Pro1885=) c.5249C= (p.Pro1750=) c.4607C= (p.Pro1536=) c.2117C= (p.Pro706=) n.6032C= | |
10 | g.71784982C>G | CA377146705 | CDH23 | c.5594C>G (p.Pro1865Arg) c.5609C>G (p.Pro1870Arg) c.5789C>G (p.Pro1930Arg) c.5723C>G (p.Pro1908Arg) c.5786C>G (p.Pro1929Arg) c.5783C>G (p.Pro1928Arg) c.5729C>G (p.Pro1910Arg) c.5654C>G (p.Pro1885Arg) c.5249C>G (p.Pro1750Arg) c.4607C>G (p.Pro1536Arg) c.2117C>G (p.Pro706Arg) n.6032C>G | |
10 | g.71784982C>T | CA377146706 | CDH23 | c.5594C>T (p.Pro1865Leu) c.5609C>T (p.Pro1870Leu) c.5789C>T (p.Pro1930Leu) c.5723C>T (p.Pro1908Leu) c.5786C>T (p.Pro1929Leu) c.5783C>T (p.Pro1928Leu) c.5729C>T (p.Pro1910Leu) c.5654C>T (p.Pro1885Leu) c.5249C>T (p.Pro1750Leu) c.4607C>T (p.Pro1536Leu) c.2117C>T (p.Pro706Leu) n.6032C>T | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71784982_71784983del | CA912970381 | CDH23 | c.5594_5595del (p.Pro1865ArgfsTer12) c.5609_5610del (p.Pro1870ArgfsTer12) c.5789_5790del (p.Pro1930ArgfsTer12) c.5723_5724del (p.Pro1908ArgfsTer12) c.5786_5787del (p.Pro1929ArgfsTer12) c.5783_5784del (p.Pro1928ArgfsTer12) c.5729_5730del (p.Pro1910ArgfsTer12) c.5654_5655del (p.Pro1885ArgfsTer12) c.5249_5250del (p.Pro1750ArgfsTer12) c.4607_4608del (p.Pro1536ArgfsTer12) c.2117_2118del (p.Pro706ArgfsTer12) n.6032_6033del | |
10 | g.71784983T>A | CA470060736 | CDH23 | c.5595T>A (p.Pro1865=) c.5610T>A (p.Pro1870=) c.5790T>A (p.Pro1930=) c.5724T>A (p.Pro1908=) c.5787T>A (p.Pro1929=) c.5784T>A (p.Pro1928=) c.5730T>A (p.Pro1910=) c.5655T>A (p.Pro1885=) c.5250T>A (p.Pro1750=) c.4608T>A (p.Pro1536=) c.2118T>A (p.Pro706=) n.6033T>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71784983T>C | CA470060737 | CDH23 | c.5595T>C (p.Pro1865=) c.5610T>C (p.Pro1870=) c.5790T>C (p.Pro1930=) c.5724T>C (p.Pro1908=) c.5787T>C (p.Pro1929=) c.5784T>C (p.Pro1928=) c.5730T>C (p.Pro1910=) c.5655T>C (p.Pro1885=) c.5250T>C (p.Pro1750=) c.4608T>C (p.Pro1536=) c.2118T>C (p.Pro706=) n.6033T>C | ClinVar dbSNP |
10 | g.71784983T>G | CA470060738 | CDH23 | c.5595T>G (p.Pro1865=) c.5610T>G (p.Pro1870=) c.5790T>G (p.Pro1930=) c.5724T>G (p.Pro1908=) c.5787T>G (p.Pro1929=) c.5784T>G (p.Pro1928=) c.5730T>G (p.Pro1910=) c.5655T>G (p.Pro1885=) c.5250T>G (p.Pro1750=) c.4608T>G (p.Pro1536=) c.2118T>G (p.Pro706=) n.6033T>G | |
10 | g.71784983T= | CA1918862305 | CDH23 | c.5595T= (p.Pro1865=) c.5610T= (p.Pro1870=) c.5790T= (p.Pro1930=) c.5724T= (p.Pro1908=) c.5787T= (p.Pro1929=) c.5784T= (p.Pro1928=) c.5730T= (p.Pro1910=) c.5655T= (p.Pro1885=) c.5250T= (p.Pro1750=) c.4608T= (p.Pro1536=) c.2118T= (p.Pro706=) n.6033T= | |
10 | g.71784984G>A | CA377146708 | CDH23 | c.5596G>A (p.Val1866Ile) c.5611G>A (p.Val1871Ile) c.5791G>A (p.Val1931Ile) c.5725G>A (p.Val1909Ile) c.5788G>A (p.Val1930Ile) c.5785G>A (p.Val1929Ile) c.5731G>A (p.Val1911Ile) c.5656G>A (p.Val1886Ile) c.5251G>A (p.Val1751Ile) c.4609G>A (p.Val1537Ile) c.2119G>A (p.Val707Ile) n.6034G>A | dbSNP |
10 | g.71784984G>C | CA377146709 | CDH23 | c.5596G>C (p.Val1866Leu) c.5611G>C (p.Val1871Leu) c.5791G>C (p.Val1931Leu) c.5725G>C (p.Val1909Leu) c.5788G>C (p.Val1930Leu) c.5785G>C (p.Val1929Leu) c.5731G>C (p.Val1911Leu) c.5656G>C (p.Val1886Leu) c.5251G>C (p.Val1751Leu) c.4609G>C (p.Val1537Leu) c.2119G>C (p.Val707Leu) n.6034G>C | gnomAD v4 |
10 | g.71784984G>T | CA377146711 | CDH23 | c.5596G>T (p.Val1866Phe) c.5611G>T (p.Val1871Phe) c.5791G>T (p.Val1931Phe) c.5725G>T (p.Val1909Phe) c.5788G>T (p.Val1930Phe) c.5785G>T (p.Val1929Phe) c.5731G>T (p.Val1911Phe) c.5656G>T (p.Val1886Phe) c.5251G>T (p.Val1751Phe) c.4609G>T (p.Val1537Phe) c.2119G>T (p.Val707Phe) n.6034G>T | |
10 | g.71784985T>A | CA377146713 | CDH23 | c.5597T>A (p.Val1866Asp) c.5612T>A (p.Val1871Asp) c.5792T>A (p.Val1931Asp) c.5726T>A (p.Val1909Asp) c.5789T>A (p.Val1930Asp) c.5786T>A (p.Val1929Asp) c.5732T>A (p.Val1911Asp) c.5657T>A (p.Val1886Asp) c.5252T>A (p.Val1751Asp) c.4610T>A (p.Val1537Asp) c.2120T>A (p.Val707Asp) n.6035T>A | |
10 | g.71784985T>C | CA377146714 | CDH23 | c.5597T>C (p.Val1866Ala) c.5612T>C (p.Val1871Ala) c.5792T>C (p.Val1931Ala) c.5726T>C (p.Val1909Ala) c.5789T>C (p.Val1930Ala) c.5786T>C (p.Val1929Ala) c.5732T>C (p.Val1911Ala) c.5657T>C (p.Val1886Ala) c.5252T>C (p.Val1751Ala) c.4610T>C (p.Val1537Ala) c.2120T>C (p.Val707Ala) n.6035T>C | |
10 | g.71784985T>G | CA377146716 | CDH23 | c.5597T>G (p.Val1866Gly) c.5612T>G (p.Val1871Gly) c.5792T>G (p.Val1931Gly) c.5726T>G (p.Val1909Gly) c.5789T>G (p.Val1930Gly) c.5786T>G (p.Val1929Gly) c.5732T>G (p.Val1911Gly) c.5657T>G (p.Val1886Gly) c.5252T>G (p.Val1751Gly) c.4610T>G (p.Val1537Gly) c.2120T>G (p.Val707Gly) n.6035T>G | |
10 | g.71784986C>A | CA470060739 | CDH23 | c.5598C>A (p.Val1866=) c.5613C>A (p.Val1871=) c.5793C>A (p.Val1931=) c.5727C>A (p.Val1909=) c.5790C>A (p.Val1930=) c.5787C>A (p.Val1929=) c.5733C>A (p.Val1911=) c.5658C>A (p.Val1886=) c.5253C>A (p.Val1751=) c.4611C>A (p.Val1537=) c.2121C>A (p.Val707=) n.6036C>A | dbSNP |
10 | g.71784986C>G | CA470060740 | CDH23 | c.5598C>G (p.Val1866=) c.5613C>G (p.Val1871=) c.5793C>G (p.Val1931=) c.5727C>G (p.Val1909=) c.5790C>G (p.Val1930=) c.5787C>G (p.Val1929=) c.5733C>G (p.Val1911=) c.5658C>G (p.Val1886=) c.5253C>G (p.Val1751=) c.4611C>G (p.Val1537=) c.2121C>G (p.Val707=) n.6036C>G | |
10 | g.71784986C>T | CA470060741 | CDH23 | c.5598C>T (p.Val1866=) c.5613C>T (p.Val1871=) c.5793C>T (p.Val1931=) c.5727C>T (p.Val1909=) c.5790C>T (p.Val1930=) c.5787C>T (p.Val1929=) c.5733C>T (p.Val1911=) c.5658C>T (p.Val1886=) c.5253C>T (p.Val1751=) c.4611C>T (p.Val1537=) c.2121C>T (p.Val707=) n.6036C>T | gnomAD v4 |
10 | g.71784987T>A | CA377146717 | CDH23 | c.5599T>A (p.Ser1867Thr) c.5614T>A (p.Ser1872Thr) c.5794T>A (p.Ser1932Thr) c.5728T>A (p.Ser1910Thr) c.5791T>A (p.Ser1931Thr) c.5788T>A (p.Ser1930Thr) c.5734T>A (p.Ser1912Thr) c.5659T>A (p.Ser1887Thr) c.5254T>A (p.Ser1752Thr) c.4612T>A (p.Ser1538Thr) c.2122T>A (p.Ser708Thr) n.6037T>A | |
10 | g.71784987T>C | CA377146718 | CDH23 | c.5599T>C (p.Ser1867Pro) c.5614T>C (p.Ser1872Pro) c.5794T>C (p.Ser1932Pro) c.5728T>C (p.Ser1910Pro) c.5791T>C (p.Ser1931Pro) c.5788T>C (p.Ser1930Pro) c.5734T>C (p.Ser1912Pro) c.5659T>C (p.Ser1887Pro) c.5254T>C (p.Ser1752Pro) c.4612T>C (p.Ser1538Pro) c.2122T>C (p.Ser708Pro) n.6037T>C | |
10 | g.71784987T>G | CA377146720 | CDH23 | c.5599T>G (p.Ser1867Ala) c.5614T>G (p.Ser1872Ala) c.5794T>G (p.Ser1932Ala) c.5728T>G (p.Ser1910Ala) c.5791T>G (p.Ser1931Ala) c.5788T>G (p.Ser1930Ala) c.5734T>G (p.Ser1912Ala) c.5659T>G (p.Ser1887Ala) c.5254T>G (p.Ser1752Ala) c.4612T>G (p.Ser1538Ala) c.2122T>G (p.Ser708Ala) n.6037T>G | |
10 | g.71784988C>A | CA377146725 | CDH23 | c.5600C>A (p.Ser1867Tyr) c.5615C>A (p.Ser1872Tyr) c.5795C>A (p.Ser1932Tyr) c.5729C>A (p.Ser1910Tyr) c.5792C>A (p.Ser1931Tyr) c.5789C>A (p.Ser1930Tyr) c.5735C>A (p.Ser1912Tyr) c.5660C>A (p.Ser1887Tyr) c.5255C>A (p.Ser1752Tyr) c.4613C>A (p.Ser1538Tyr) c.2123C>A (p.Ser708Tyr) n.6038C>A | gnomAD v4 |
10 | g.71784988C>G | CA377146722 | CDH23 | c.5600C>G (p.Ser1867Cys) c.5615C>G (p.Ser1872Cys) c.5795C>G (p.Ser1932Cys) c.5729C>G (p.Ser1910Cys) c.5792C>G (p.Ser1931Cys) c.5789C>G (p.Ser1930Cys) c.5735C>G (p.Ser1912Cys) c.5660C>G (p.Ser1887Cys) c.5255C>G (p.Ser1752Cys) c.4613C>G (p.Ser1538Cys) c.2123C>G (p.Ser708Cys) n.6038C>G | |
10 | g.71784988C>T | CA377146724 | CDH23 | c.5600C>T (p.Ser1867Phe) c.5615C>T (p.Ser1872Phe) c.5795C>T (p.Ser1932Phe) c.5729C>T (p.Ser1910Phe) c.5792C>T (p.Ser1931Phe) c.5789C>T (p.Ser1930Phe) c.5735C>T (p.Ser1912Phe) c.5660C>T (p.Ser1887Phe) c.5255C>T (p.Ser1752Phe) c.4613C>T (p.Ser1538Phe) c.2123C>T (p.Ser708Phe) n.6038C>T | |
10 | g.71784989C>A | CA470060742 | CDH23 | c.5601C>A (p.Ser1867=) c.5616C>A (p.Ser1872=) c.5796C>A (p.Ser1932=) c.5730C>A (p.Ser1910=) c.5793C>A (p.Ser1931=) c.5790C>A (p.Ser1930=) c.5736C>A (p.Ser1912=) c.5661C>A (p.Ser1887=) c.5256C>A (p.Ser1752=) c.4614C>A (p.Ser1538=) c.2124C>A (p.Ser708=) n.6039C>A | |
10 | g.71784989C>G | CA470060743 | CDH23 | c.5601C>G (p.Ser1867=) c.5616C>G (p.Ser1872=) c.5796C>G (p.Ser1932=) c.5730C>G (p.Ser1910=) c.5793C>G (p.Ser1931=) c.5790C>G (p.Ser1930=) c.5736C>G (p.Ser1912=) c.5661C>G (p.Ser1887=) c.5256C>G (p.Ser1752=) c.4614C>G (p.Ser1538=) c.2124C>G (p.Ser708=) n.6039C>G | |
10 | g.71784989C>T | CA470060744 | CDH23 | c.5601C>T (p.Ser1867=) c.5616C>T (p.Ser1872=) c.5796C>T (p.Ser1932=) c.5730C>T (p.Ser1910=) c.5793C>T (p.Ser1931=) c.5790C>T (p.Ser1930=) c.5736C>T (p.Ser1912=) c.5661C>T (p.Ser1887=) c.5256C>T (p.Ser1752=) c.4614C>T (p.Ser1538=) c.2124C>T (p.Ser708=) n.6039C>T | |
10 | g.71784990A>C | CA377146726 | CDH23 | c.5602A>C (p.Ser1868Arg) c.5617A>C (p.Ser1873Arg) c.5797A>C (p.Ser1933Arg) c.5731A>C (p.Ser1911Arg) c.5794A>C (p.Ser1932Arg) c.5791A>C (p.Ser1931Arg) c.5737A>C (p.Ser1913Arg) c.5662A>C (p.Ser1888Arg) c.5257A>C (p.Ser1753Arg) c.4615A>C (p.Ser1539Arg) c.2125A>C (p.Ser709Arg) n.6040A>C | |
10 | g.71784990A>G | CA377146727 | CDH23 | c.5602A>G (p.Ser1868Gly) c.5617A>G (p.Ser1873Gly) c.5797A>G (p.Ser1933Gly) c.5731A>G (p.Ser1911Gly) c.5794A>G (p.Ser1932Gly) c.5791A>G (p.Ser1931Gly) c.5737A>G (p.Ser1913Gly) c.5662A>G (p.Ser1888Gly) c.5257A>G (p.Ser1753Gly) c.4615A>G (p.Ser1539Gly) c.2125A>G (p.Ser709Gly) n.6040A>G | |
10 | g.71784990A>T | CA377146728 | CDH23 | c.5602A>T (p.Ser1868Cys) c.5617A>T (p.Ser1873Cys) c.5797A>T (p.Ser1933Cys) c.5731A>T (p.Ser1911Cys) c.5794A>T (p.Ser1932Cys) c.5791A>T (p.Ser1931Cys) c.5737A>T (p.Ser1913Cys) c.5662A>T (p.Ser1888Cys) c.5257A>T (p.Ser1753Cys) c.4615A>T (p.Ser1539Cys) c.2125A>T (p.Ser709Cys) n.6040A>T | |
10 | g.71784991G>A | CA377146730 | CDH23 | c.5603G>A (p.Ser1868Asn) c.5618G>A (p.Ser1873Asn) c.5798G>A (p.Ser1933Asn) c.5732G>A (p.Ser1911Asn) c.5795G>A (p.Ser1932Asn) c.5792G>A (p.Ser1931Asn) c.5738G>A (p.Ser1913Asn) c.5663G>A (p.Ser1888Asn) c.5258G>A (p.Ser1753Asn) c.4616G>A (p.Ser1539Asn) c.2126G>A (p.Ser709Asn) n.6041G>A | |
10 | g.71784991G>C | CA377146732 | CDH23 | c.5603G>C (p.Ser1868Thr) c.5618G>C (p.Ser1873Thr) c.5798G>C (p.Ser1933Thr) c.5732G>C (p.Ser1911Thr) c.5795G>C (p.Ser1932Thr) c.5792G>C (p.Ser1931Thr) c.5738G>C (p.Ser1913Thr) c.5663G>C (p.Ser1888Thr) c.5258G>C (p.Ser1753Thr) c.4616G>C (p.Ser1539Thr) c.2126G>C (p.Ser709Thr) n.6041G>C | |
10 | g.71784991G>T | CA377146733 | CDH23 | c.5603G>T (p.Ser1868Ile) c.5618G>T (p.Ser1873Ile) c.5798G>T (p.Ser1933Ile) c.5732G>T (p.Ser1911Ile) c.5795G>T (p.Ser1932Ile) c.5792G>T (p.Ser1931Ile) c.5738G>T (p.Ser1913Ile) c.5663G>T (p.Ser1888Ile) c.5258G>T (p.Ser1753Ile) c.4616G>T (p.Ser1539Ile) c.2126G>T (p.Ser709Ile) n.6041G>T | |
10 | g.71784992C>A | CA377146735 | CDH23 | c.5604C>A (p.Ser1868Arg) c.5619C>A (p.Ser1873Arg) c.5799C>A (p.Ser1933Arg) c.5733C>A (p.Ser1911Arg) c.5796C>A (p.Ser1932Arg) c.5793C>A (p.Ser1931Arg) c.5739C>A (p.Ser1913Arg) c.5664C>A (p.Ser1888Arg) c.5259C>A (p.Ser1753Arg) c.4617C>A (p.Ser1539Arg) c.2127C>A (p.Ser709Arg) n.6042C>A | gnomAD v4 |
10 | g.71784992C= | CA1918862309 | CDH23 | c.5604C= (p.Ser1868=) c.5619C= (p.Ser1873=) c.5799C= (p.Ser1933=) c.5733C= (p.Ser1911=) c.5796C= (p.Ser1932=) c.5793C= (p.Ser1931=) c.5739C= (p.Ser1913=) c.5664C= (p.Ser1888=) c.5259C= (p.Ser1753=) c.4617C= (p.Ser1539=) c.2127C= (p.Ser709=) n.6042C= | |
10 | g.71784992C>G | CA377146737 | CDH23 | c.5604C>G (p.Ser1868Arg) c.5619C>G (p.Ser1873Arg) c.5799C>G (p.Ser1933Arg) c.5733C>G (p.Ser1911Arg) c.5796C>G (p.Ser1932Arg) c.5793C>G (p.Ser1931Arg) c.5739C>G (p.Ser1913Arg) c.5664C>G (p.Ser1888Arg) c.5259C>G (p.Ser1753Arg) c.4617C>G (p.Ser1539Arg) c.2127C>G (p.Ser709Arg) n.6042C>G | |
10 | g.71784992C>T | CA470060745 | CDH23 | c.5604C>T (p.Ser1868=) c.5619C>T (p.Ser1873=) c.5799C>T (p.Ser1933=) c.5733C>T (p.Ser1911=) c.5796C>T (p.Ser1932=) c.5793C>T (p.Ser1931=) c.5739C>T (p.Ser1913=) c.5664C>T (p.Ser1888=) c.5259C>T (p.Ser1753=) c.4617C>T (p.Ser1539=) c.2127C>T (p.Ser709=) n.6042C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71784993T>A | CA377146738 | CDH23 | c.5605T>A (p.Phe1869Ile) c.5620T>A (p.Phe1874Ile) c.5800T>A (p.Phe1934Ile) c.5734T>A (p.Phe1912Ile) c.5797T>A (p.Phe1933Ile) c.5794T>A (p.Phe1932Ile) c.5740T>A (p.Phe1914Ile) c.5665T>A (p.Phe1889Ile) c.5260T>A (p.Phe1754Ile) c.4618T>A (p.Phe1540Ile) c.2128T>A (p.Phe710Ile) n.6043T>A | |
10 | g.71784993T>C | CA377146739 | CDH23 | c.5605T>C (p.Phe1869Leu) c.5620T>C (p.Phe1874Leu) c.5800T>C (p.Phe1934Leu) c.5734T>C (p.Phe1912Leu) c.5797T>C (p.Phe1933Leu) c.5794T>C (p.Phe1932Leu) c.5740T>C (p.Phe1914Leu) c.5665T>C (p.Phe1889Leu) c.5260T>C (p.Phe1754Leu) c.4618T>C (p.Phe1540Leu) c.2128T>C (p.Phe710Leu) n.6043T>C | |
10 | g.71784993T>G | CA377146741 | CDH23 | c.5605T>G (p.Phe1869Val) c.5620T>G (p.Phe1874Val) c.5800T>G (p.Phe1934Val) c.5734T>G (p.Phe1912Val) c.5797T>G (p.Phe1933Val) c.5794T>G (p.Phe1932Val) c.5740T>G (p.Phe1914Val) c.5665T>G (p.Phe1889Val) c.5260T>G (p.Phe1754Val) c.4618T>G (p.Phe1540Val) c.2128T>G (p.Phe710Val) n.6043T>G | |
10 | g.71784994T>A | CA377146744 | CDH23 | c.5606T>A (p.Phe1869Tyr) c.5621T>A (p.Phe1874Tyr) c.5801T>A (p.Phe1934Tyr) c.5735T>A (p.Phe1912Tyr) c.5798T>A (p.Phe1933Tyr) c.5795T>A (p.Phe1932Tyr) c.5741T>A (p.Phe1914Tyr) c.5666T>A (p.Phe1889Tyr) c.5261T>A (p.Phe1754Tyr) c.4619T>A (p.Phe1540Tyr) c.2129T>A (p.Phe710Tyr) n.6044T>A | |
10 | g.71784994T>C | CA377146745 | CDH23 | c.5606T>C (p.Phe1869Ser) c.5621T>C (p.Phe1874Ser) c.5801T>C (p.Phe1934Ser) c.5735T>C (p.Phe1912Ser) c.5798T>C (p.Phe1933Ser) c.5795T>C (p.Phe1932Ser) c.5741T>C (p.Phe1914Ser) c.5666T>C (p.Phe1889Ser) c.5261T>C (p.Phe1754Ser) c.4619T>C (p.Phe1540Ser) c.2129T>C (p.Phe710Ser) n.6044T>C | |
10 | g.71784994T>G | CA377146743 | CDH23 | c.5606T>G (p.Phe1869Cys) c.5621T>G (p.Phe1874Cys) c.5801T>G (p.Phe1934Cys) c.5735T>G (p.Phe1912Cys) c.5798T>G (p.Phe1933Cys) c.5795T>G (p.Phe1932Cys) c.5741T>G (p.Phe1914Cys) c.5666T>G (p.Phe1889Cys) c.5261T>G (p.Phe1754Cys) c.4619T>G (p.Phe1540Cys) c.2129T>G (p.Phe710Cys) n.6044T>G | |
10 | g.71784995T>A | CA377146747 | CDH23 | c.5607T>A (p.Phe1869Leu) c.5622T>A (p.Phe1874Leu) c.5802T>A (p.Phe1934Leu) c.5736T>A (p.Phe1912Leu) c.5799T>A (p.Phe1933Leu) c.5796T>A (p.Phe1932Leu) c.5742T>A (p.Phe1914Leu) c.5667T>A (p.Phe1889Leu) c.5262T>A (p.Phe1754Leu) c.4620T>A (p.Phe1540Leu) c.2130T>A (p.Phe710Leu) n.6045T>A | |
10 | g.71784995T>C | CA470060746 | CDH23 | c.5607T>C (p.Phe1869=) c.5622T>C (p.Phe1874=) c.5802T>C (p.Phe1934=) c.5736T>C (p.Phe1912=) c.5799T>C (p.Phe1933=) c.5796T>C (p.Phe1932=) c.5742T>C (p.Phe1914=) c.5667T>C (p.Phe1889=) c.5262T>C (p.Phe1754=) c.4620T>C (p.Phe1540=) c.2130T>C (p.Phe710=) n.6045T>C | |
10 | g.71784995T>G | CA377146749 | CDH23 | c.5607T>G (p.Phe1869Leu) c.5622T>G (p.Phe1874Leu) c.5802T>G (p.Phe1934Leu) c.5736T>G (p.Phe1912Leu) c.5799T>G (p.Phe1933Leu) c.5796T>G (p.Phe1932Leu) c.5742T>G (p.Phe1914Leu) c.5667T>G (p.Phe1889Leu) c.5262T>G (p.Phe1754Leu) c.4620T>G (p.Phe1540Leu) c.2130T>G (p.Phe710Leu) n.6045T>G | |
10 | g.71784996G>A | CA377146750 | CDH23 | c.5608G>A (p.Val1870Ile) c.5623G>A (p.Val1875Ile) c.5803G>A (p.Val1935Ile) c.5737G>A (p.Val1913Ile) c.5800G>A (p.Val1934Ile) c.5797G>A (p.Val1933Ile) c.5743G>A (p.Val1915Ile) c.5668G>A (p.Val1890Ile) c.5263G>A (p.Val1755Ile) c.4621G>A (p.Val1541Ile) c.2131G>A (p.Val711Ile) n.6046G>A | dbSNP |
10 | g.71784996G>C | CA377146752 | CDH23 | c.5608G>C (p.Val1870Leu) c.5623G>C (p.Val1875Leu) c.5803G>C (p.Val1935Leu) c.5737G>C (p.Val1913Leu) c.5800G>C (p.Val1934Leu) c.5797G>C (p.Val1933Leu) c.5743G>C (p.Val1915Leu) c.5668G>C (p.Val1890Leu) c.5263G>C (p.Val1755Leu) c.4621G>C (p.Val1541Leu) c.2131G>C (p.Val711Leu) n.6046G>C | dbSNP |
10 | g.71784996G= | CA1918862315 | CDH23 | c.5608G= (p.Val1870=) c.5623G= (p.Val1875=) c.5803G= (p.Val1935=) c.5737G= (p.Val1913=) c.5800G= (p.Val1934=) c.5797G= (p.Val1933=) c.5743G= (p.Val1915=) c.5668G= (p.Val1890=) c.5263G= (p.Val1755=) c.4621G= (p.Val1541=) c.2131G= (p.Val711=) n.6046G= | |
10 | g.71784996G>T | CA377146753 | CDH23 | c.5608G>T (p.Val1870Phe) c.5623G>T (p.Val1875Phe) c.5803G>T (p.Val1935Phe) c.5737G>T (p.Val1913Phe) c.5800G>T (p.Val1934Phe) c.5797G>T (p.Val1933Phe) c.5743G>T (p.Val1915Phe) c.5668G>T (p.Val1890Phe) c.5263G>T (p.Val1755Phe) c.4621G>T (p.Val1541Phe) c.2131G>T (p.Val711Phe) n.6046G>T | |
10 | g.71784997T>A | CA377146755 | CDH23 | c.5609T>A (p.Val1870Asp) c.5624T>A (p.Val1875Asp) c.5804T>A (p.Val1935Asp) c.5738T>A (p.Val1913Asp) c.5801T>A (p.Val1934Asp) c.5798T>A (p.Val1933Asp) c.5744T>A (p.Val1915Asp) c.5669T>A (p.Val1890Asp) c.5264T>A (p.Val1755Asp) c.4622T>A (p.Val1541Asp) c.2132T>A (p.Val711Asp) n.6047T>A | |
10 | g.71784997T>C | CA377146756 | CDH23 | c.5609T>C (p.Val1870Ala) c.5624T>C (p.Val1875Ala) c.5804T>C (p.Val1935Ala) c.5738T>C (p.Val1913Ala) c.5801T>C (p.Val1934Ala) c.5798T>C (p.Val1933Ala) c.5744T>C (p.Val1915Ala) c.5669T>C (p.Val1890Ala) c.5264T>C (p.Val1755Ala) c.4622T>C (p.Val1541Ala) c.2132T>C (p.Val711Ala) n.6047T>C | gnomAD v4 |
10 | g.71784997T>G | CA377146757 | CDH23 | c.5609T>G (p.Val1870Gly) c.5624T>G (p.Val1875Gly) c.5804T>G (p.Val1935Gly) c.5738T>G (p.Val1913Gly) c.5801T>G (p.Val1934Gly) c.5798T>G (p.Val1933Gly) c.5744T>G (p.Val1915Gly) c.5669T>G (p.Val1890Gly) c.5264T>G (p.Val1755Gly) c.4622T>G (p.Val1541Gly) c.2132T>G (p.Val711Gly) n.6047T>G | |
10 | g.71784998C>A | CA470060747 | CDH23 | c.5610C>A (p.Val1870=) c.5625C>A (p.Val1875=) c.5805C>A (p.Val1935=) c.5739C>A (p.Val1913=) c.5802C>A (p.Val1934=) c.5799C>A (p.Val1933=) c.5745C>A (p.Val1915=) c.5670C>A (p.Val1890=) c.5265C>A (p.Val1755=) c.4623C>A (p.Val1541=) c.2133C>A (p.Val711=) n.6048C>A | ClinVar gnomAD v4 |
10 | g.71784998C= | CA1918862320 | CDH23 | c.5610C= (p.Val1870=) c.5625C= (p.Val1875=) c.5805C= (p.Val1935=) c.5739C= (p.Val1913=) c.5802C= (p.Val1934=) c.5799C= (p.Val1933=) c.5745C= (p.Val1915=) c.5670C= (p.Val1890=) c.5265C= (p.Val1755=) c.4623C= (p.Val1541=) c.2133C= (p.Val711=) n.6048C= | |
10 | g.71784998C>G | CA470060748 | CDH23 | c.5610C>G (p.Val1870=) c.5625C>G (p.Val1875=) c.5805C>G (p.Val1935=) c.5739C>G (p.Val1913=) c.5802C>G (p.Val1934=) c.5799C>G (p.Val1933=) c.5745C>G (p.Val1915=) c.5670C>G (p.Val1890=) c.5265C>G (p.Val1755=) c.4623C>G (p.Val1541=) c.2133C>G (p.Val711=) n.6048C>G | ClinVar |
10 | g.71784998C>T | CA5545814 | CDH23 | c.5610C>T (p.Val1870=) c.5625C>T (p.Val1875=) c.5805C>T (p.Val1935=) c.5739C>T (p.Val1913=) c.5802C>T (p.Val1934=) c.5799C>T (p.Val1933=) c.5745C>T (p.Val1915=) c.5670C>T (p.Val1890=) c.5265C>T (p.Val1755=) c.4623C>T (p.Val1541=) c.2133C>T (p.Val711=) n.6048C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71784999G>A | CA5545815 | CDH23 | c.5611G>A (p.Ala1871Thr) c.5626G>A (p.Ala1876Thr) c.5806G>A (p.Ala1936Thr) c.5740G>A (p.Ala1914Thr) c.5803G>A (p.Ala1935Thr) c.5800G>A (p.Ala1934Thr) c.5746G>A (p.Ala1916Thr) c.5671G>A (p.Ala1891Thr) c.5266G>A (p.Ala1756Thr) c.4624G>A (p.Ala1542Thr) c.2134G>A (p.Ala712Thr) n.6049G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71784999G>C | CA377146759 | CDH23 | c.5611G>C (p.Ala1871Pro) c.5626G>C (p.Ala1876Pro) c.5806G>C (p.Ala1936Pro) c.5740G>C (p.Ala1914Pro) c.5803G>C (p.Ala1935Pro) c.5800G>C (p.Ala1934Pro) c.5746G>C (p.Ala1916Pro) c.5671G>C (p.Ala1891Pro) c.5266G>C (p.Ala1756Pro) c.4624G>C (p.Ala1542Pro) c.2134G>C (p.Ala712Pro) n.6049G>C | |
10 | g.71784999G= | CA1918862325 | CDH23 | c.5611G= (p.Ala1871=) c.5626G= (p.Ala1876=) c.5806G= (p.Ala1936=) c.5740G= (p.Ala1914=) c.5803G= (p.Ala1935=) c.5800G= (p.Ala1934=) c.5746G= (p.Ala1916=) c.5671G= (p.Ala1891=) c.5266G= (p.Ala1756=) c.4624G= (p.Ala1542=) c.2134G= (p.Ala712=) n.6049G= | |
10 | g.71784999G>T | CA377146760 | CDH23 | c.5611G>T (p.Ala1871Ser) c.5626G>T (p.Ala1876Ser) c.5806G>T (p.Ala1936Ser) c.5740G>T (p.Ala1914Ser) c.5803G>T (p.Ala1935Ser) c.5800G>T (p.Ala1934Ser) c.5746G>T (p.Ala1916Ser) c.5671G>T (p.Ala1891Ser) c.5266G>T (p.Ala1756Ser) c.4624G>T (p.Ala1542Ser) c.2134G>T (p.Ala712Ser) n.6049G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.71785000C>A | CA377146763 | CDH23 | c.5612C>A (p.Ala1871Asp) c.5627C>A (p.Ala1876Asp) c.5807C>A (p.Ala1936Asp) c.5741C>A (p.Ala1914Asp) c.5804C>A (p.Ala1935Asp) c.5801C>A (p.Ala1934Asp) c.5747C>A (p.Ala1916Asp) c.5672C>A (p.Ala1891Asp) c.5267C>A (p.Ala1756Asp) c.4625C>A (p.Ala1542Asp) c.2135C>A (p.Ala712Asp) n.6050C>A | |
10 | g.71785000C>G | CA377146764 | CDH23 | c.5612C>G (p.Ala1871Gly) c.5627C>G (p.Ala1876Gly) c.5807C>G (p.Ala1936Gly) c.5741C>G (p.Ala1914Gly) c.5804C>G (p.Ala1935Gly) c.5801C>G (p.Ala1934Gly) c.5747C>G (p.Ala1916Gly) c.5672C>G (p.Ala1891Gly) c.5267C>G (p.Ala1756Gly) c.4625C>G (p.Ala1542Gly) c.2135C>G (p.Ala712Gly) n.6050C>G | |
10 | g.71785000C>T | CA377146762 | CDH23 | c.5612C>T (p.Ala1871Val) c.5627C>T (p.Ala1876Val) c.5807C>T (p.Ala1936Val) c.5741C>T (p.Ala1914Val) c.5804C>T (p.Ala1935Val) c.5801C>T (p.Ala1934Val) c.5747C>T (p.Ala1916Val) c.5672C>T (p.Ala1891Val) c.5267C>T (p.Ala1756Val) c.4625C>T (p.Ala1542Val) c.2135C>T (p.Ala712Val) n.6050C>T | gnomAD v4 |
10 | g.71785002dup | CA2838827953 | CDH23 | c.5614dup (p.His1872ProfsTer6) c.5629dup (p.His1877ProfsTer6) c.5809dup (p.His1937ProfsTer6) c.5743dup (p.His1915ProfsTer6) c.5806dup (p.His1936ProfsTer6) c.5803dup (p.His1935ProfsTer6) c.5749dup (p.His1917ProfsTer6) c.5674dup (p.His1892ProfsTer6) c.5269dup (p.His1757ProfsTer6) c.4627dup (p.His1543ProfsTer6) c.2137dup (p.His713ProfsTer6) n.6052dup | |
10 | g.71785001C>A | CA470060749 | CDH23 | c.5613C>A (p.Ala1871=) c.5628C>A (p.Ala1876=) c.5808C>A (p.Ala1936=) c.5742C>A (p.Ala1914=) c.5805C>A (p.Ala1935=) c.5802C>A (p.Ala1934=) c.5748C>A (p.Ala1916=) c.5673C>A (p.Ala1891=) c.5268C>A (p.Ala1756=) c.4626C>A (p.Ala1542=) c.2136C>A (p.Ala712=) n.6051C>A | |
10 | g.71785001C>G | CA470060750 | CDH23 | c.5613C>G (p.Ala1871=) c.5628C>G (p.Ala1876=) c.5808C>G (p.Ala1936=) c.5742C>G (p.Ala1914=) c.5805C>G (p.Ala1935=) c.5802C>G (p.Ala1934=) c.5748C>G (p.Ala1916=) c.5673C>G (p.Ala1891=) c.5268C>G (p.Ala1756=) c.4626C>G (p.Ala1542=) c.2136C>G (p.Ala712=) n.6051C>G | |
10 | g.71785001C>T | CA470060751 | CDH23 | c.5613C>T (p.Ala1871=) c.5628C>T (p.Ala1876=) c.5808C>T (p.Ala1936=) c.5742C>T (p.Ala1914=) c.5805C>T (p.Ala1935=) c.5802C>T (p.Ala1934=) c.5748C>T (p.Ala1916=) c.5673C>T (p.Ala1891=) c.5268C>T (p.Ala1756=) c.4626C>T (p.Ala1542=) c.2136C>T (p.Ala712=) n.6051C>T | |
10 | g.71785002C>A | CA377146765 | CDH23 | c.5614C>A (p.His1872Asn) c.5629C>A (p.His1877Asn) c.5809C>A (p.His1937Asn) c.5743C>A (p.His1915Asn) c.5806C>A (p.His1936Asn) c.5803C>A (p.His1935Asn) c.5749C>A (p.His1917Asn) c.5674C>A (p.His1892Asn) c.5269C>A (p.His1757Asn) c.4627C>A (p.His1543Asn) c.2137C>A (p.His713Asn) n.6052C>A | |
10 | g.71785002C= | CA1918862333 | CDH23 | c.5614C= (p.His1872=) c.5629C= (p.His1877=) c.5809C= (p.His1937=) c.5743C= (p.His1915=) c.5806C= (p.His1936=) c.5803C= (p.His1935=) c.5749C= (p.His1917=) c.5674C= (p.His1892=) c.5269C= (p.His1757=) c.4627C= (p.His1543=) c.2137C= (p.His713=) n.6052C= | |
10 | g.71785002C>G | CA377146767 | CDH23 | c.5614C>G (p.His1872Asp) c.5629C>G (p.His1877Asp) c.5809C>G (p.His1937Asp) c.5743C>G (p.His1915Asp) c.5806C>G (p.His1936Asp) c.5803C>G (p.His1935Asp) c.5749C>G (p.His1917Asp) c.5674C>G (p.His1892Asp) c.5269C>G (p.His1757Asp) c.4627C>G (p.His1543Asp) c.2137C>G (p.His713Asp) n.6052C>G | |
10 | g.71785002C>T | CA5545816 | CDH23 | c.5614C>T (p.His1872Tyr) c.5629C>T (p.His1877Tyr) c.5809C>T (p.His1937Tyr) c.5743C>T (p.His1915Tyr) c.5806C>T (p.His1936Tyr) c.5803C>T (p.His1935Tyr) c.5749C>T (p.His1917Tyr) c.5674C>T (p.His1892Tyr) c.5269C>T (p.His1757Tyr) c.4627C>T (p.His1543Tyr) c.2137C>T (p.His713Tyr) n.6052C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71785003A= | CA1918862336 | CDH23 | c.5615A= (p.His1872=) c.5630A= (p.His1877=) c.5810A= (p.His1937=) c.5744A= (p.His1915=) c.5807A= (p.His1936=) c.5804A= (p.His1935=) c.5750A= (p.His1917=) c.5675A= (p.His1892=) c.5270A= (p.His1757=) c.4628A= (p.His1543=) c.2138A= (p.His713=) n.6053A= | |
10 | g.71785003A>C | CA377146769 | CDH23 | c.5615A>C (p.His1872Pro) c.5630A>C (p.His1877Pro) c.5810A>C (p.His1937Pro) c.5744A>C (p.His1915Pro) c.5807A>C (p.His1936Pro) c.5804A>C (p.His1935Pro) c.5750A>C (p.His1917Pro) c.5675A>C (p.His1892Pro) c.5270A>C (p.His1757Pro) c.4628A>C (p.His1543Pro) c.2138A>C (p.His713Pro) n.6053A>C | |
10 | g.71785003A>G | CA5545817 | CDH23 | c.5615A>G (p.His1872Arg) c.5630A>G (p.His1877Arg) c.5810A>G (p.His1937Arg) c.5744A>G (p.His1915Arg) c.5807A>G (p.His1936Arg) c.5804A>G (p.His1935Arg) c.5750A>G (p.His1917Arg) c.5675A>G (p.His1892Arg) c.5270A>G (p.His1757Arg) c.4628A>G (p.His1543Arg) c.2138A>G (p.His713Arg) n.6053A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71785003A>T | CA377146771 | CDH23 | c.5615A>T (p.His1872Leu) c.5630A>T (p.His1877Leu) c.5810A>T (p.His1937Leu) c.5744A>T (p.His1915Leu) c.5807A>T (p.His1936Leu) c.5804A>T (p.His1935Leu) c.5750A>T (p.His1917Leu) c.5675A>T (p.His1892Leu) c.5270A>T (p.His1757Leu) c.4628A>T (p.His1543Leu) c.2138A>T (p.His713Leu) n.6053A>T | |
10 | g.71785004T>A | CA377146775 | CDH23 | c.5616T>A (p.His1872Gln) c.5631T>A (p.His1877Gln) c.5811T>A (p.His1937Gln) c.5745T>A (p.His1915Gln) c.5808T>A (p.His1936Gln) c.5805T>A (p.His1935Gln) c.5751T>A (p.His1917Gln) c.5676T>A (p.His1892Gln) c.5271T>A (p.His1757Gln) c.4629T>A (p.His1543Gln) c.2139T>A (p.His713Gln) n.6054T>A | |
10 | g.71785004T>C | CA209457521 | CDH23 | c.5616T>C (p.His1872=) c.5631T>C (p.His1877=) c.5811T>C (p.His1937=) c.5745T>C (p.His1915=) c.5808T>C (p.His1936=) c.5805T>C (p.His1935=) c.5751T>C (p.His1917=) c.5676T>C (p.His1892=) c.5271T>C (p.His1757=) c.4629T>C (p.His1543=) c.2139T>C (p.His713=) n.6054T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71785004T>G | CA377146773 | CDH23 | c.5616T>G (p.His1872Gln) c.5631T>G (p.His1877Gln) c.5811T>G (p.His1937Gln) c.5745T>G (p.His1915Gln) c.5808T>G (p.His1936Gln) c.5805T>G (p.His1935Gln) c.5751T>G (p.His1917Gln) c.5676T>G (p.His1892Gln) c.5271T>G (p.His1757Gln) c.4629T>G (p.His1543Gln) c.2139T>G (p.His713Gln) n.6054T>G | gnomAD v4 |
10 | g.71785004T= | CA1918862341 | CDH23 | c.5616T= (p.His1872=) c.5631T= (p.His1877=) c.5811T= (p.His1937=) c.5745T= (p.His1915=) c.5808T= (p.His1936=) c.5805T= (p.His1935=) c.5751T= (p.His1917=) c.5676T= (p.His1892=) c.5271T= (p.His1757=) c.4629T= (p.His1543=) c.2139T= (p.His713=) n.6054T= | |
10 | g.71785005G>A | CA377146776 | CDH23 | c.5617G>A (p.Val1873Ile) c.5632G>A (p.Val1878Ile) c.5812G>A (p.Val1938Ile) c.5746G>A (p.Val1916Ile) c.5809G>A (p.Val1937Ile) c.5806G>A (p.Val1936Ile) c.5752G>A (p.Val1918Ile) c.5677G>A (p.Val1893Ile) c.5272G>A (p.Val1758Ile) c.4630G>A (p.Val1544Ile) c.2140G>A (p.Val714Ile) n.6055G>A | |
10 | g.71785005G>C | CA377146777 | CDH23 | c.5617G>C (p.Val1873Leu) c.5632G>C (p.Val1878Leu) c.5812G>C (p.Val1938Leu) c.5746G>C (p.Val1916Leu) c.5809G>C (p.Val1937Leu) c.5806G>C (p.Val1936Leu) c.5752G>C (p.Val1918Leu) c.5677G>C (p.Val1893Leu) c.5272G>C (p.Val1758Leu) c.4630G>C (p.Val1544Leu) c.2140G>C (p.Val714Leu) n.6055G>C | |
10 | g.71785005G>T | CA377146778 | CDH23 | c.5617G>T (p.Val1873Phe) c.5632G>T (p.Val1878Phe) c.5812G>T (p.Val1938Phe) c.5746G>T (p.Val1916Phe) c.5809G>T (p.Val1937Phe) c.5806G>T (p.Val1936Phe) c.5752G>T (p.Val1918Phe) c.5677G>T (p.Val1893Phe) c.5272G>T (p.Val1758Phe) c.4630G>T (p.Val1544Phe) c.2140G>T (p.Val714Phe) n.6055G>T | |
10 | g.71785006T>A | CA377146780 | CDH23 | c.5618T>A (p.Val1873Asp) c.5633T>A (p.Val1878Asp) c.5813T>A (p.Val1938Asp) c.5747T>A (p.Val1916Asp) c.5810T>A (p.Val1937Asp) c.5807T>A (p.Val1936Asp) c.5753T>A (p.Val1918Asp) c.5678T>A (p.Val1893Asp) c.5273T>A (p.Val1758Asp) c.4631T>A (p.Val1544Asp) c.2141T>A (p.Val714Asp) n.6056T>A | |
10 | g.71785006T>C | CA377146781 | CDH23 | c.5618T>C (p.Val1873Ala) c.5633T>C (p.Val1878Ala) c.5813T>C (p.Val1938Ala) c.5747T>C (p.Val1916Ala) c.5810T>C (p.Val1937Ala) c.5807T>C (p.Val1936Ala) c.5753T>C (p.Val1918Ala) c.5678T>C (p.Val1893Ala) c.5273T>C (p.Val1758Ala) c.4631T>C (p.Val1544Ala) c.2141T>C (p.Val714Ala) n.6056T>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71785006T>G | CA377146783 | CDH23 | c.5618T>G (p.Val1873Gly) c.5633T>G (p.Val1878Gly) c.5813T>G (p.Val1938Gly) c.5747T>G (p.Val1916Gly) c.5810T>G (p.Val1937Gly) c.5807T>G (p.Val1936Gly) c.5753T>G (p.Val1918Gly) c.5678T>G (p.Val1893Gly) c.5273T>G (p.Val1758Gly) c.4631T>G (p.Val1544Gly) c.2141T>G (p.Val714Gly) n.6056T>G | |
10 | g.71785006T= | CA1918862344 | CDH23 | c.5618T= (p.Val1873=) c.5633T= (p.Val1878=) c.5813T= (p.Val1938=) c.5747T= (p.Val1916=) c.5810T= (p.Val1937=) c.5807T= (p.Val1936=) c.5753T= (p.Val1918=) c.5678T= (p.Val1893=) c.5273T= (p.Val1758=) c.4631T= (p.Val1544=) c.2141T= (p.Val714=) n.6056T= | |
10 | g.71785007C>A | CA470060752 | CDH23 | c.5619C>A (p.Val1873=) c.5634C>A (p.Val1878=) c.5814C>A (p.Val1938=) c.5748C>A (p.Val1916=) c.5811C>A (p.Val1937=) c.5808C>A (p.Val1936=) c.5754C>A (p.Val1918=) c.5679C>A (p.Val1893=) c.5274C>A (p.Val1758=) c.4632C>A (p.Val1544=) c.2142C>A (p.Val714=) n.6057C>A | |
10 | g.71785007C>G | CA470060754 | CDH23 | c.5619C>G (p.Val1873=) c.5634C>G (p.Val1878=) c.5814C>G (p.Val1938=) c.5748C>G (p.Val1916=) c.5811C>G (p.Val1937=) c.5808C>G (p.Val1936=) c.5754C>G (p.Val1918=) c.5679C>G (p.Val1893=) c.5274C>G (p.Val1758=) c.4632C>G (p.Val1544=) c.2142C>G (p.Val714=) n.6057C>G | |
10 | g.71785007C>T | CA470060753 | CDH23 | c.5619C>T (p.Val1873=) c.5634C>T (p.Val1878=) c.5814C>T (p.Val1938=) c.5748C>T (p.Val1916=) c.5811C>T (p.Val1937=) c.5808C>T (p.Val1936=) c.5754C>T (p.Val1918=) c.5679C>T (p.Val1893=) c.5274C>T (p.Val1758=) c.4632C>T (p.Val1544=) c.2142C>T (p.Val714=) n.6057C>T | |
10 | g.71785008C>A | CA377146785 | CDH23 | c.5620C>A (p.Leu1874Met) c.5635C>A (p.Leu1879Met) c.5815C>A (p.Leu1939Met) c.5749C>A (p.Leu1917Met) c.5812C>A (p.Leu1938Met) c.5809C>A (p.Leu1937Met) c.5755C>A (p.Leu1919Met) c.5680C>A (p.Leu1894Met) c.5275C>A (p.Leu1759Met) c.4633C>A (p.Leu1545Met) c.2143C>A (p.Leu715Met) n.6058C>A | |
10 | g.71785008C>G | CA377146784 | CDH23 | c.5620C>G (p.Leu1874Val) c.5635C>G (p.Leu1879Val) c.5815C>G (p.Leu1939Val) c.5749C>G (p.Leu1917Val) c.5812C>G (p.Leu1938Val) c.5809C>G (p.Leu1937Val) c.5755C>G (p.Leu1919Val) c.5680C>G (p.Leu1894Val) c.5275C>G (p.Leu1759Val) c.4633C>G (p.Leu1545Val) c.2143C>G (p.Leu715Val) n.6058C>G | |
10 | g.71785008C>T | CA470060755 | CDH23 | c.5620C>T (p.Leu1874=) c.5635C>T (p.Leu1879=) c.5815C>T (p.Leu1939=) c.5749C>T (p.Leu1917=) c.5812C>T (p.Leu1938=) c.5809C>T (p.Leu1937=) c.5755C>T (p.Leu1919=) c.5680C>T (p.Leu1894=) c.5275C>T (p.Leu1759=) c.4633C>T (p.Leu1545=) c.2143C>T (p.Leu715=) n.6058C>T | |
10 | g.71785009T>A | CA377146787 | CDH23 | c.5621T>A (p.Leu1874Gln) c.5636T>A (p.Leu1879Gln) c.5816T>A (p.Leu1939Gln) c.5750T>A (p.Leu1917Gln) c.5813T>A (p.Leu1938Gln) c.5810T>A (p.Leu1937Gln) c.5756T>A (p.Leu1919Gln) c.5681T>A (p.Leu1894Gln) c.5276T>A (p.Leu1759Gln) c.4634T>A (p.Leu1545Gln) c.2144T>A (p.Leu715Gln) n.6059T>A | |
10 | g.71785009T>C | CA377146790 | CDH23 | c.5621T>C (p.Leu1874Pro) c.5636T>C (p.Leu1879Pro) c.5816T>C (p.Leu1939Pro) c.5750T>C (p.Leu1917Pro) c.5813T>C (p.Leu1938Pro) c.5810T>C (p.Leu1937Pro) c.5756T>C (p.Leu1919Pro) c.5681T>C (p.Leu1894Pro) c.5276T>C (p.Leu1759Pro) c.4634T>C (p.Leu1545Pro) c.2144T>C (p.Leu715Pro) n.6059T>C | |
10 | g.71785009T>G | CA5545818 | CDH23 | c.5621T>G (p.Leu1874Arg) c.5636T>G (p.Leu1879Arg) c.5816T>G (p.Leu1939Arg) c.5750T>G (p.Leu1917Arg) c.5813T>G (p.Leu1938Arg) c.5810T>G (p.Leu1937Arg) c.5756T>G (p.Leu1919Arg) c.5681T>G (p.Leu1894Arg) c.5276T>G (p.Leu1759Arg) c.4634T>G (p.Leu1545Arg) c.2144T>G (p.Leu715Arg) n.6059T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71785009T= | CA1918862346 | CDH23 | c.5621T= (p.Leu1874=) c.5636T= (p.Leu1879=) c.5816T= (p.Leu1939=) c.5750T= (p.Leu1917=) c.5813T= (p.Leu1938=) c.5810T= (p.Leu1937=) c.5756T= (p.Leu1919=) c.5681T= (p.Leu1894=) c.5276T= (p.Leu1759=) c.4634T= (p.Leu1545=) c.2144T= (p.Leu715=) n.6059T= | |
10 | g.71785010G>A | CA470060756 | CDH23 | c.5622G>A (p.Leu1874=) c.5637G>A (p.Leu1879=) c.5817G>A (p.Leu1939=) c.5751G>A (p.Leu1917=) c.5814G>A (p.Leu1938=) c.5811G>A (p.Leu1937=) c.5757G>A (p.Leu1919=) c.5682G>A (p.Leu1894=) c.5277G>A (p.Leu1759=) c.4635G>A (p.Leu1545=) c.2145G>A (p.Leu715=) n.6060G>A | |
10 | g.71785010G>C | CA470060757 | CDH23 | c.5622G>C (p.Leu1874=) c.5637G>C (p.Leu1879=) c.5817G>C (p.Leu1939=) c.5751G>C (p.Leu1917=) c.5814G>C (p.Leu1938=) c.5811G>C (p.Leu1937=) c.5757G>C (p.Leu1919=) c.5682G>C (p.Leu1894=) c.5277G>C (p.Leu1759=) c.4635G>C (p.Leu1545=) c.2145G>C (p.Leu715=) n.6060G>C | ClinVar dbSNP gnomAD v4 |
10 | g.71785010G>T | CA470060758 | CDH23 | c.5622G>T (p.Leu1874=) c.5637G>T (p.Leu1879=) c.5817G>T (p.Leu1939=) c.5751G>T (p.Leu1917=) c.5814G>T (p.Leu1938=) c.5811G>T (p.Leu1937=) c.5757G>T (p.Leu1919=) c.5682G>T (p.Leu1894=) c.5277G>T (p.Leu1759=) c.4635G>T (p.Leu1545=) c.2145G>T (p.Leu715=) n.6060G>T | |
10 | g.71785011G>A | CA377146793 | CDH23 | c.5623G>A (p.Ala1875Thr) c.5638G>A (p.Ala1880Thr) c.5818G>A (p.Ala1940Thr) c.5752G>A (p.Ala1918Thr) c.5815G>A (p.Ala1939Thr) c.5812G>A (p.Ala1938Thr) c.5758G>A (p.Ala1920Thr) c.5683G>A (p.Ala1895Thr) c.5278G>A (p.Ala1760Thr) c.4636G>A (p.Ala1546Thr) c.2146G>A (p.Ala716Thr) n.6061G>A | |
10 | g.71785011G>C | CA377146797 | CDH23 | c.5623G>C (p.Ala1875Pro) c.5638G>C (p.Ala1880Pro) c.5818G>C (p.Ala1940Pro) c.5752G>C (p.Ala1918Pro) c.5815G>C (p.Ala1939Pro) c.5812G>C (p.Ala1938Pro) c.5758G>C (p.Ala1920Pro) c.5683G>C (p.Ala1895Pro) c.5278G>C (p.Ala1760Pro) c.4636G>C (p.Ala1546Pro) c.2146G>C (p.Ala716Pro) n.6061G>C | |
10 | g.71785011G>T | CA377146795 | CDH23 | c.5623G>T (p.Ala1875Ser) c.5638G>T (p.Ala1880Ser) c.5818G>T (p.Ala1940Ser) c.5752G>T (p.Ala1918Ser) c.5815G>T (p.Ala1939Ser) c.5812G>T (p.Ala1938Ser) c.5758G>T (p.Ala1920Ser) c.5683G>T (p.Ala1895Ser) c.5278G>T (p.Ala1760Ser) c.4636G>T (p.Ala1546Ser) c.2146G>T (p.Ala716Ser) n.6061G>T | COSMIC |
10 | g.71785012C>A | CA377146801 | CDH23 | c.5624C>A (p.Ala1875Asp) c.5639C>A (p.Ala1880Asp) c.5819C>A (p.Ala1940Asp) c.5753C>A (p.Ala1918Asp) c.5816C>A (p.Ala1939Asp) c.5813C>A (p.Ala1938Asp) c.5759C>A (p.Ala1920Asp) c.5684C>A (p.Ala1895Asp) c.5279C>A (p.Ala1760Asp) c.4637C>A (p.Ala1546Asp) c.2147C>A (p.Ala716Asp) n.6062C>A | |
10 | g.71785012C>G | CA377146803 | CDH23 | c.5624C>G (p.Ala1875Gly) c.5639C>G (p.Ala1880Gly) c.5819C>G (p.Ala1940Gly) c.5753C>G (p.Ala1918Gly) c.5816C>G (p.Ala1939Gly) c.5813C>G (p.Ala1938Gly) c.5759C>G (p.Ala1920Gly) c.5684C>G (p.Ala1895Gly) c.5279C>G (p.Ala1760Gly) c.4637C>G (p.Ala1546Gly) c.2147C>G (p.Ala716Gly) n.6062C>G | |
10 | g.71785012C>T | CA377146806 | CDH23 | c.5624C>T (p.Ala1875Val) c.5639C>T (p.Ala1880Val) c.5819C>T (p.Ala1940Val) c.5753C>T (p.Ala1918Val) c.5816C>T (p.Ala1939Val) c.5813C>T (p.Ala1938Val) c.5759C>T (p.Ala1920Val) c.5684C>T (p.Ala1895Val) c.5279C>T (p.Ala1760Val) c.4637C>T (p.Ala1546Val) c.2147C>T (p.Ala716Val) n.6062C>T | dbSNP |